Volume 17; Issue 9-10

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Neuromuscular Disorders
Volume 17; Issue 9-10

Neuromuscular Disorders

Volume 17; Issue 9-10

1

Myosin storage myopathy with cardiomyopathy

H. Tajsharghi, A. Oldfors, M. Swash

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

2

A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

Elena Cardaioli, Paola Da Pozzo, Gian Nicola Gallus, Alessandro Malandrini, Simona Gambelli, Carmen Gaudiano, Edoardo Malfatti, Carlo Viscomi, Enza Zicari, Gianna Berti, Giovanni Serni, Maria Teresa D

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 276 KB

english, 2007

3

A brief history of the Meryon Society

Alan Emery, Marcia Emery

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 68 KB

english, 2007

4

The molecular basis of Spinal Muscular Atrophy (SMA) in South African black patients

R. Labrum, J. Rodda, A. Krause

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 145 KB

english, 2007

5

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

Henry Rivera, Alberto Blázquez, Julián Carretero, José C. Alvarez-Cermeño, Y. Campos, Ana Cabello, Emiliano Gonzalez-Vioque, Belén Borstein, Rafael Garesse, Joaquín Arenas, Miguel A. Martín

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 185 KB

english, 2007

6

Laser microdissection-based expression analysis of key genes involved in muscle regeneration in mdx mice

Mario Marotta, Yaris Sarria, Claudia Ruiz-Roig, Francina Munell, Manuel Roig-Quilis

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2007

7

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients

Jessica M. O’Hagen, Allan M. Glanzman, Michael P. McDermott, Patricia A. Ryan, Jean Flickinger, Janet Quigley, Susan Riley, Erica Sanborn, Carrie Irvine, William B. Martens, Christine Annis, Rabi Tawi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 115 KB

english, 2007

8

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller-Felber, Rita Horvath, Klaus Gempel, Teodor Podskarbi, Yoon Shin, Dieter Pongratz, Maggie C. Walter, Martina Baethmann, Beate Schlotter-Weigel, Hanns Lochmüller, Benedikt Schoser

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 122 KB

english, 2007

9

Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome

Gianluca Marucci, Luca Morandi, Ilaria Bartolomei, Fabrizio Salvi, Annalisa Pession, Alberto Righi, Giuseppe Lauria, Maria P. Foschini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 88 KB

english, 2007

10

What zebras and mice can teach us about familial ALS

Michael Benatar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

11

Gross muscle hypertrophy in whippet dogs is caused by a mutation in the myostatin gene

G. Diane Shelton, Eva Engvall

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 194 KB

english, 2007

12

PROGRAMME AND ABSTRACTS of the 12th International Congress of the World Muscle Society Giardini Naxos – Taormina, Italy, 17–20 October 2007

Journal:

Neuromuscular Disorders

Année:

2007

Fichier:

PDF, 199 KB

2007

13

Message from the president of WMS

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 80 KB

english, 2007

14

12th WMS Congress - 2007 - Programme (Summary)

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 70 KB

english, 2007

15

12th WMS Congress - 2007 - Programme

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 248 KB

english, 2007

16

Table of location of abstract topics

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

17

M.I.1 New frontiers in glycogen storage diseases

S. Di Mauro, O. Akman

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

18

M.I.2 Muscle disorders of lipid dysmetabolism

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

19

M.I.3 Nuclear genes involved in mitochondrial syndromes

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 79 KB

english, 2007

20

M.I.4 Primary and secondary coenzyme Q10 deficiency

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

21

M.I.5 Somatic mtDNA mutations in health and disease and a futuristic approach towards therapy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

22

M.O.1 Muscular manifestations of very long-chain acyl-coenzyme A dehydrogenase deficiency: A clinical, and biochemical study in 12 patients

P. Laforêt, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Pénisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A. Bedat-Millet, A. Lombès, B. Andresen, B. Eymard, C. Vianey-Saba

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

23

M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene cause myopathic form of coenzyme Q10 deficiency

H. Topaloglu, K. Gempel, B. Talim, P. Schneiderat, B. Schoser, H. Volkmar, G. Kale, A. Tokatli, C. Quinzii, M. Hirano, A. Naini, S. Di Mauro, H. Prokisch, H. Lochmüller, R. Horvath

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

24

G.O.1 Specific sequence variations associated with FSHD

R. Lemmers, M. Wohlgemuth, C. van der Kaag, P. Van der Vliet, P. de Knijff, G. Padberg, R. Frants, S. Van der Maarel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

25

G.O.2 In sporadic inclusion-body myositis (s-IBM) muscle fibers, Parkinson-disease-associated DJ-1 is oxidized and might play a novel pathogenic role

C. Terracciano, A. Nogalska, W.K. Engel, S. Wojcik, V. Askanas

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 67 KB

english, 2007

26

G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

V. Delague, A. Jacquier, T. Hamadouche, Y. Poitelon, C. Baudot, I. Boccaccio, E. Chouery, M. Chaouch, N. Kassouri, R. Jabbour, D. Grid, A. Mégarbané, G. Haase, N. Levy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 53 KB

english, 2007

27

G.O.4 The NF-kappaB activator PLEKHG5 gene is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

I. Maystadt, R. Rezsöhazy, M. Barkats, S. Duque, P. Vannuffel, M. Najimi, A. Munnich, L. Viollet, C. Verellen-Dumoulin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 53 KB

english, 2007

28

M.P.1.01 Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations

B. De Paepe, J. Smet, M. Lammens, S. Seneca, J. Martin, J. De Bleecker, R. Van Coster

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

29

M.P.1.02 The evaluation of complex III activity using a novel in-gel activity staining method

J. Smet, B. De Paepe, S. Sara, A. Meulemans, W. Lissens, H. Kotarsky, L. De Meirleir, V. Fellman, R. Van Coster

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

30

M.P.1.03 ATP synthase subcomplexes are the hallmark of a defective intramitochondrial protein translation

R. Van Coster, J. Smet, B. De Paepe, S. Seneca, A. Meulemans, W. Lissens, L. De Meirleir

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

31

M.P.1.04 A novel mtDNA mutation in COIII impairs assembly of cytochrome c oxidase in a MELAS patient

A. Tessa, E. Pennisi, D. Cassandrini, T. Rizza, I. Wittig, F. Fattori, M. Meschini, E. Bertini, L. Santarelli, C. Bruno, R. Carrozzo, H. Schägger, F. Santorelli

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

32

M.P.1.05 The COII/tRNALys intergenic 9-bp deletion in mtDNA: A new possible cause of sensorineural hearing loss?

F. Castello, E. Borgione, S. Musumeci, G. Rizzo, M. Elia, G. Calabrese, C. Scuderi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

33

M.P.1.06 A novel mutation in the mitochondrial ND3 gene causing Leigh syndrome with late-onset neurological decline

M. Tchikviladzé, P. Laforêt, B. Eymard, F. Delbos, S. Filaut, A. Lombès, C. Jardel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

34

M.P.1.07 Detection of single mtDNA deletions by Long-Range-PCR in blood of patients with CPEO

M. Wendt, R. Taylor, A. Rokicka, S. Zierz, M. Deschauer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

35

M.P.1.08 A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment

R. Virgilio, A. Bordoni, D. Ronchi, F. Saladino, N. Bresolin, M. Sciacco, G. Comi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

36

M.P.1.09 Mitochondrial disorders with isolated skeletal muscle defect

C. Jardel, B. Eymard, I. Lemière, B. Hainque, A. Lombès, P. Laforêt

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

37

M.P.1.10 Mitochondrial myopathy caused by thymidine kinase 2 (TK2) mutation mimics congenital muscular dystrophy

P. Isohanni, A. Götz, S. Marjavaara, A. Paetau, R. Herva, A. Suomalainen, H. Pihko

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

38

M.P.1.11 Homoplasmic point mutations in mitochondrial tRNA genes in patients with encephalomyopathy

E. Borgione, C. Scuderi, F. Castello, M. Elia, G. Vitello, S. Musumeci

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

39

M.P.1.12 Progressive encephalopathy and complex I deficiency associated with novel mutations in MTND1

A. Moslemi, N. Darin, M. Tulinius, E. Holme, A. Oldfors

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

40

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

M. Filosto, P. Tonin, M. Scarpelli, C. Savio, M. Mancuso, R. Tupler, G. Vattemi, G. Tomelleri

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

41

M.P.1.14 Asymptomatic mitochondrial myopathy with mtDNA multiple deletions revealed by propofol-induced multiple organ failure with rhabdomyolysis

R. Carroccia, R. Rinaldi, G. Cenacchi, L. Badiali De Giorgi, L. Tarantino, M. Valentino, E. Baldin, F. Pizza, C. La Morgia, F. Coccolo, M. Zavatta, A. Santoro, V. Carelli

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

42

M.P.1.15 A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations

H. Swallwell, R. McFarland, J. Elson, E. Blakely, L. He, E. Groen, K. Bushby, D. Turnbull, R. Taylor

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

43

G.P.1.01 Long term steroid use in non-ambulatory patients with Duchenne muscular dystrophy

M. Eagle, M. MCallum, M. Guglieri, V. Straub, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

44

G.P.1.02 10 years follow-up of early corticosteroid treatment of Duchenne muscular dystrophy

L. Merlini, E. Malaspina, M. Gennari, A. Cicognani, E. Franzoni, B. Talim

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

45

G.P.1.03 Increasing survival and changing needs in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with daily prednisone therapy since 1991

S. Pandya, E. Ciafaloni, D. Guntrum, R. Moxley

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

46

G.P.1.04 Long-term steroid use of intermittent low-dosage prednisolone therapy in Duchenne muscular dystrophy with special reference to tolerance and functional outcomes

C. Poulton, M. Kinali, S. Robb, M. Main, A. Manzur, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

47

G.P.1.05 Long-term follow-up of functional performance in children with Duchenne muscular dystrophy treated with deflazacort

K. Gorni, S. Orcesi, A. Berardinelli, A. Pini, M. Giannotta, E. Fazzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

48

G.P.1.06 Outcome of Duchenne muscular dystrophy patients treated with daily deflazacort, daily prednisone, low dose 10 days on/10 days off prednisone and high dose weekend prednisone

J. Collins, M. Knue, C. Wang, K. Kinnett, M. Kalra, L. Cripe, B. Wong

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

49

G.P.1.07 Prednisone 10 days on/10 days off in 33 boys with Duchenne muscular dystrophy

C. Straathof, W. Overweg-Plandsoen, G. van der Burg, J. Verschuuren, A. van der Kooi, I. de Groot

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

50

G.P.1.08 Steroids in Duchenne muscular dystrophy (DMD): Natural history and clinical evaluation using the North Star Ambulatory Assessment (NSAA)

M. Eagle, E. Scott, M. Main, J. Sheehan, M. Michelle, M. Guglieri, V. Straub, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

51

G.P.1.09 Myoglobinuria in steroid-treated Duchenne muscular dystrophy

P. Garrood, M. Eagle, P. Jardine, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

52

G.P.1.10 Profiles of weight gain and cardiopulmonary outcomes in boys with Duchenne muscular dystrophy

V. Kwinecki, V. Harris, J. Vajsar, D. Biggar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

53

G.P.1.11 Heart and respiratory function in steroid treated DMD

A. Berardinelli, K. Gorni, A. Pini, C. Motta, E. Fazzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

54

G.P.1.12 Effects of corticosteroids on the muscle strength and serum enzyme levels in Duchenne muscular dystrophy patients from different regions of Brazil

C. Melo e Souza, M. Magario, A. Godoy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

55

G.P.1.13 Deflazacort induced severe skeletal muscle wasting and inguinal herniation in normal Beagle dogs

M. Yoshimura, A. Nakamura, M. Kobayashi, S. Takeda

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

56

G.P.1.14 Characterization of dystrophic muscle in golden retriever muscular dystrophy dogs by nuclear magnetic resonance imaging

J. Thibaud, A. Monnet, I. Barthélémy, S. Blot, P. Carlier, D. Bertoldi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

57

G.P.1.15 Clinical description and molecular analysis of a promising model of DMD, the LRMD dog

I. Barthélémy, J. Thibaud, N. Carelle, L. Tiret, A. Vulin, C. Drougard, L. Garcia, J. Kaplan, F. Leturcq, S. Blot

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

58

G.P.1.16 Extreme clinical variability in GRMD: From neonatal death to asymptomatic carriers

C. Ambrosio, E. Zucconi, D. Martins, C. Vanucchi, M. Perez, N. Vieira, M. Valadares, T. Jazedje, M. Miglino, M. Zatz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

59

G.P.2.01 The natural history of spinal muscular atrophy – preliminary results from the PNCR network

P. Kaufmann, R. Finkel, B. Darras, C. Gooch, P. Kang, R. Tawil, M. McDermott, D. De Vivo

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

60

G.P.2.02 Preliminary results of a spinal muscular atrophy parent survey

R. Finkel, E. Bertini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

61

G.P.2.03 Longitudinal study confirming muscle strength deterioration in SMA IIIb

F. Deymeer, P. Serdaroglu, Y. Parman, M. Poda

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

62

G.P.2.04 Feeding problems and weight gain in spinal muscular atrophy

S. Messina, M. Pane, P. De Rose, I. Vasta, D. Sorleti, F. Sciarra, F. Mangiola, E. Mercuri

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 57 KB

english, 2007

63

G.P.2.05 Improving the outcomes in children with severe spinal muscular atrophy with a proactive approach

M. Chadehumbe, M. Kalra, T. Inge, M. Knue, B. Wong

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 42 KB

english, 2007

64

G.P.2.06 Reducing the morbidity in spinal muscular atrophy type 1 patients post-operatively by a standardized extubation protocol

M. Chadehumbe, M. Ednick, B. Wong, M. Knue, T. Inge, M. Kalra

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 42 KB

english, 2007

65

G.P.2.07 Spinal muscular atrophy plus arthrogryposis and congenital bone fractures: A case report

H. Karasoy, O. Ozbay, N. Yuceyar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 42 KB

english, 2007

66

G.P.2.08 SMA frequency in Poland

M. Jedrzejowska, J. Zimowski, D. Sielska, A. Kostera-Pruszczyk, M. Milewski, M. Jurek, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

67

G.P.2.09 Analysis of point mutations in the SMN1 gene in Czech SMA patients

P. Hedvicakova, P. Vondracek, L. Fajkusova, E. Zapletalova

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

68

G.P.2.10 Are the ACE ID and TGFβ polymorphisms involved in SMA phenotype?

P. Apostol, D. Cimponeriu, M. Stavarachi, M. Toma, I. Radu, L. Gavrila

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

69

G.P.2.11 Spinal muscular atrophy. The mutational spectra in children from Western Sweden

N. Darin, E. Arkblad, A. Kroksmark, K. Berg, E. Holmberg, M. Nordling, M. Tulinius

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

70

G.P.2.12 Spinal muscular atrophy and P213S polymorphism in L-selectin gene: A case-control study in Romanian subjects

M. Stavarachi, P. Apostol, D. Cimponeriu, M. Toma, N. Butoianu, C. Burloiu, S. Magureanu, I. Radu, L. Gavrila

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

71

G.P.2.13 Challenges of enrollment for SMA type I clinical trials

S. Iannaccone, L. Hynan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

72

G.P.2.14 Metabolic dysfunction and progressive motor neuron loss in SMA: Implications for clinical trials and newborn screening

K. Swoboda, T. Crawford, M. Pasquale, N. Longo, M. Bromberg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

73

G.P.2.15 EUROSMART: European Spinal Muscular Atrophy Randomised Placebo-Controlled Trial of acetyl-L-carnitine in spinal muscular atrophy

L. Merlini, B. Basoglu, C. Dohna-Schwake, A. Febrer, I. Hausmanova-Petrusewicz, M. Jedrzejowska, M. Luppi, Y. Shapira, I. Taustein, E. Tizzano, H. Topaloglu, T. Voit, B. Talim

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

74

G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children

A. Ghezzo, D. Tiziano, R. Lodi, C. Tonon, C. Brahe, A. Pini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

75

G.P.2.17 An innovative and integrated approach to identify compounds that modulate SMN protein expression at the post-transcriptional level

S. Paushkin, L. Volkova, A. Dakka, M. Patel, B. Furia, A. Bhattacharyya, E. Welch

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

76

G.P.2.18 A two-site ELISA for measurement of SMN protein and its application to finding drugs for treatment of spinal muscular atrophy (SMA)

M. Nguyen Thi, E. Humphrey, T. Le, H. Fuller, T. Lynch, C. Sewry, A. MacKenzie, P. Goodwin, G. Morris

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

77

G.P.2.19 Comparison of foetal muscle and spinal cord in SMA: Morphology, cell death and Bcl2/Bcl-X expression

E. Tizzano, C. Soler, L. Caselles, L. Alias, E. Also, M. Barceló, M. Baiget

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

78

G.P.3.01 The use of immortalised human fibroblasts from a DMD patient to test exon skipping in vivo

S. Chaouch, D. Furling, A. Goyenvalle, L. Garcia, J. Di Santo, Y. Torrente, G. Butler-Browne, V. Mouly

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

79

G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery

P. Rimessi, P. Sabatelli, F. Gualandi, P. Spitali, M. Bovolenta, E. Martoni, M. Fabris, V. Nigro, E. Nusco, E. Calzolari, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

80

G.P.3.03 Accounting for pre-mRNA co-transcriptional folding in selection of antisense oligonucleotide targets for induction of exon skipping in DMD

K. Wee, Z. Pramono, J. Wang, K. MacDorman, W. Yee, P. Lai

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

81

G.P.3.04 Rescue of human dystrophin after transplantation of exon skipping-engineered DMD stem cells in a dystrophic animal model

R. Benchaouir, A. Goyenvalle, M. Meregalli, M. Belicchi, A. Farini, M. Battistelli, N. Bresolin, L. Garcia, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

82

G.P.3.05 Phase 2 study of PTC124 for nonsense mutation suppression therapy of Duchenne muscular dystrophy (DMD)

C. Bönnemann, R. Finkel, B. Wong, K. Flanigan, J. Sampson, L. Sweeney, A. Reha, G. Elfring, L. Miller, S. Hirawat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

83

G.P.3.06 Identification and characterization of small molecules for the treatment of Duchenne muscular dystrophy

W. Friesen, Y. Tomizawa, J. Zhuo, R. Baiazitov, S. Lee, T. Nadarajan, Y. Moon, H. Sweeney, E. Welch

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

84

G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene

P. Spitali, M. Fabris, M. Bovolenta, E. Martoni, C. Trabanelli, G. Galluzzi, C. Angelini, F. Gualandi, P. Rimessi, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

85

G.P.3.08 Missense mutations in the dystrophin ZZ domain: Effects beyond beta dystroglycan binding?

B. Maiti, M. Howard, K. Flanigan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

86

G.P.3.09 MicroRNA expression in Duchenne and Becker muscular dystrophy

M. Aguennouz, O. Musumeci, N. Lanzano, S. Soufiani, R. Crupi, C. Rodolico, A. Toscano, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

87

G.P.3.10 CTGF expression in normal and dystrophic muscles: Correlation to fibrosis

P. Noirez, I. Ambrosi, M. Fiszman, C. Dubois, H. Alameddine

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

88

G.P.3.11 Novel myostatin inhibitors increase muscle mass in wild-type and mdx mice

J. Lachey, A. Pullen, R. Pearsall, J. Seehra

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

89

G.P.3.12 Treatment with a soluble activin receptor type llB attenuates glucocorticoid-induced muscle loss

J. Lachey, A. Pullen, R. Pearsall, J. Seehra

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

90

G.P.3.13 Myostatin inhibition increases atrogin-1 expression and accelerates skeletal muscle atrophy under denervated conditions

Y. Ohsawa, T. Murakami, T. Okada, S. Nishimatsu, T. Nohno, S. Noji, Y. Sunada

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

91

G.P.3.14 No evidence for increased muscle regeneration in myostatin deficient mdx mice (mstn-/-mdx)

H. Amthor, M. Friedrichs, T. Voit

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

92

G.P.3.15 Androgen status influences myostatin expression in an androgen-dependent skeletal muscle of the rat

L. Mendler, Z. Baka, A. Kovacs-Simon, L. Dux

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

93

G.P.3.16 In skeletal muscle of patients with type-II fiber atrophy, myostatin (MSTN) and myostatin precursor protein (MSTN-PP) are both increased

S. Wojcik, A. Nogalska, W.K. Engel, V. Askanas

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

94

G.P.3.17 DLK1 as a candidate for booster gene therapy in muscular dystrophy

L. Joergensen, C. Jensen, E. Davis, C. Charlier, M. Georges, H. Schroeder

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

95

G.P.4.01 Mutational spectrum of the DYSF gene based on a large cohort of dysferlin deficient patients

M. Krahn, R. Bernard, K. Nguyen, V. Labelle, G. Bassez, D. Figarella-Branger, J. Pouget, E. Di Salvo, E. Hammouda, C. Béroud, B. Eymard, J.A. Urtizberea, F. Leturcq, N. Lévy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

96

G.P.4.02 Founder effect of a new DYSF exon 48-skipping mutation detected in seven Portuguese dysferlinopathy patients

R. Santos, J. Oliveira, E. Vieira, T. Coelho, A. Carneiro Leite, T. Evangelista, A. Fortuna, A. Geraldo, N. Luís, A. Guimarães

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

97

G.P.4.03 Dysferlinopathy in Thai patients and its unusual pathological findings

S. Pongpakdee, V. Sopassathit, S. Phudhichareonrat, U. Suthiponpaisan, K. Goto, Y. Hayashi, I. Nishino, R. Witoonpanich

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

98

G.P.4.04 Dysferlinopathy LGMD2B in children: Description of 3 cases

R. Erazo, A. Henríquez, M. Schultz, C. Labarca, M. Aracena, J. Carrasco, G. Bascuñán, V. Soto

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

99

G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

L. González-Quereda, H. Gómez, A. Cabello, N. De Luna, E. Gallardo, M. Rodriguez, J. Juan, M. Baiget, P. Gallano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

100

G.P.4.06 Dysferlinopathy with very late onset and untypical clinical presentation

L. Klinge, A. Dean, P. Dixon, R. Charlton, L. Anderson, R. Barresi, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

101

G.P.4.07 Relation between LGMD2B progression and physical activity

C. Borsato, R. Padoan, M. Fanin, E. Pegoraro, C. Angelini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

102

G.P.4.08 Dysferlin in muscle regeneration

L. Klinge, J. Harris, R. Charlton, F. Hanisch, V. Straub, R. Barresi, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

103

G.P.4.09 Human dysferlin transcript variants from skeletal muscle and peripheral blood

Z. Pramono, J. See, C. Tan, I. Seah, C. Lim, M. Ho, W. Yee, P. Lai

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

104

G.P.4.10 Functional evaluation of a putative mini-dysferlin identified in a patient with moderate Miyoshi myopathy phenotype

M. Krahn, N. Wein, K. Nguyen, C. Vial, S. Courrier, W. Lostal, M. Bartoli, V. Labelle, F. Leturcq, P. Cau, I. Richard, N. Levy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

105

G.P.4.11 Affixin activates Rac1 via PIX in C2C12 myoblasts

C. Matsuda, K. Kameyama, A. Suzuki, W. Mishima, S. Yamaji, H. Okamoto, I. Nishino, Y. Hayashi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

106

G.P.4.12 Analysis of the diagnostic strategy for limb girdle muscular dystrophy 2A in the UK

E. Groen, R. Charlton, R. Barresi, L. Anderson, M. Eagle, J. Hudson, M. Santibanez Koref, V. Straub, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

107

G.P.4.13 Mutation screening of CAPN3 gene in 13 Turkish LGMD2A patients

H. Gündesli, B. Balci, B. Talim, H. Topaloglu, P. Dincer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

108

G.P.4.14 Clinical variability in siblings with calpainopathy (LGMD2A)

J. Kirschner, J. Schessl, M. Walter, G. Schreiber, C. Müller-Reible, U. Schara, C. Bönnemann, R. Korinthenberg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

109

G.P.4.15 CAPN3 mutations in patients with idiopathic eosinophilic myositis: A predystrophic stage of LGMD2A?

M. Krahn, F. Hanisch, M. Goicoechea, E. Groen, C. Pécheux, F. Garcia-Bragado, R. Layzer, F. Leturcq, J. Strober, J.A. Urtizberea, A. Sáenz, K. Bushby, N. Lévy, A. Lopez de Munain

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

110

G.P.4.16 Characterization of calpain 3 expression in white blood cells and its application as a diagnostic tool in LGMD2A

L. Blázquez, M. Azpitarte, M. Goicoechea, A. Sáenz, O. Zuriarrain, J. Vilchez, I. Illa, X. Ferrer, E. Gutierrez-Rivas, A. López de Munain

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

111

G.P.4.17 Calpain 3 is implicated in the regulation of the transcriptional activity of MyoD during myogenesis

P. Stuelsatz, P. Veschambre, P. Cottin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

112

M.P.2.01 Late-onset Pompe disease: A report of three cases in Rio Grande do Sul State, Brazil and identification of novel mutations

C. Marrone, M. Suely, S. Shinjo, R. Silva, G. Gabellini, M. Blanco, H. Amartino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

113

M.P.2.02 A family with multiple members affected by late-onset Pompe disease due to the R224W(670C > T) mutation: Potential candidates for enzyme replacement therapy?

P. Vondracek, M. Hermanova, H. Oslejskova, J. Soukalova, R. Gaillyova, V. Malinova, H. Poupetova, D. Halley, A. van der Ploeg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

114

M.P.2.03 “Double trouble” in muscle diseases: Fortuitous association or new intriguing disorders?

M. Di Gregorio, L. Passamano, A. De Martino, O. Paciello, V. Ventriglia, A. Palladino, S. Papparella, A. Toscano, G. Nigro, L. Politano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

115

M.P.2.04 The use of a comprehensive battery for the assessment of muscle strength and function in late onset Pompe disease

J. Wokke, P. Laforêt, A. Pestronk, K. Jaffe, G. Carter, J. Mayhew, D. Escolar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

116

M.P.2.05 Late onset Pompe disease is associated with impaired pulmonary and muscle function and diminished health-related quality of life

G. Carter, K. Jaffe, J. Wokke, P. Laforêt, A. Pestronk, D. Escolar, J. Mayhew, J. Florence, A. Skrinar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

117

M.P.2.06 Gradual disease progression during long-term follow up of patients with late-onset Pompe disease

N. Van der Beek, M. Hagemans, A. Reuser, W. Hop, A. van der Ploeg, P. Van Doorn, J. Wokke

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

118

M.P.2.07 Dilatative arteriopathy and basilar artery aneurysm complicating late-onset Pompe disease

P. Laforêt, P. Petiot, D. Orlikowski, T. Petitjean, N. Pellegrini, C. Caillaud, I. Maire, M. Nicolino, D. Annane, B. Eymard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

119

M.P.2.08 Cardiologic evaluation in adults with Pompe disease shows no signs of cardiomyopathy

N. Van der Beek, O. Soliman, M. Geleijnse, M. Kroos, A. Reuser, W. Vletter, A. van der Ploeg, P. Van Doorn

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

120

M.P.2.09 The utility of skeletal muscle CT scan in childhood-onset Pompe disease

K. Ishigaki, T. Murakami, K. Shishikura, H. Suzuki, Y. Hirayama, Y. Arai, H. Sugie, M. Osawa

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

121

M.P.2.10 Disease methods: Development of a simple mechanism to calculate disease severity in Pompe patients

E. Giannini, D. Marsden, K. Berger, A. van der Ploeg, L. Case, C. Dandrea

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

122

M.P.2.11 Morphological studies in an eleven week-gestation foetus with glycogenosis II (Pompe disease)

B. San Millan, S. Teijeira, S. Miranda, I. Vieitez, C. Navarro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

123

M.P.2.12 The Pompe Registry: Centralized data collection to track the natural course of Pompe disease

P. Kishnani, L. Merlini, B. Byrne, W. Mueller-Felber, L. Case, A. van der Ploeg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

124

M.P.2.13 The French Pompe registry: A prospective clinical survey of patients with late onset Pompe disease in France

C. Vincitorio, C. Payant, V. Doppler, D. Orlikowski, N. Pellegrini, S. Attarian, J. Pouget, T. Stojkovic, S. Sacconi, C. Desnuelle, F. Zagnoli, L. Feasson, P. Labauge, I. Pénisson-Besnier, M. Minot-My

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

125

M.P.2.14 Muscle gene expression profile in adult onset acid maltase deficiency

O. Musumeci, M. Aguennouz, C. Rodolico, N. Lanzano, F. Maio, V. Cianci, A. Ciranni, G. Vita, A. Toscano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

126

G.P.5.01 Inflammatory or ‘congenital myopathy’ type findings in muscle biopsies of patients with LMNA mutations

F. Lubieniecki, S. Monges, A. Dubrovsky, A. Stewart-Harris, V. Ruggieri, F. Barroso, G. Espada, M. Ferrea, M. Robertella, P. Richard, G. Bonne, N. Romero, P. Guicheney, M. Sacolitti, A. Taratuto

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

127

G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

S. Quijano-Roy, B. Mbieleu, C. Bönnemann, P. Jeannet, J. Colomer, N. Clarke, J. Cuisset, H. Roper, L. De Meirleir, A. D’Amico, R. Ben Yaou, A. Barois, L. Demay, N. Romero, C. Sewry, E. Bertini, A. Fer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

128

G.P.5.03 An infant with a congenital inflammatory myopathy further broadens the phenotypes of laminopathies

P. Jeannet, V. Spehrs, S. Quijano-Roy, P. Richard, A. Lobrinus

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

129

G.P.5.04 Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a homozygous lamin A/C mutation

M. Olivé, J. Roca, L. Gonzalez, P. Richard, I. Ferrer, G. Bonne

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

130

G.P.5.05 A novel mutation in a French–Canadian family with LGMD1B

N. Dupre, N. Chrestian, P. Valdmanis, G. Rouleau, N. Echahidi, J. Champagne, D. Brunet, P. Gould

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

131

G.P.5.06 LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?

M. Auer-Grumbach, C. Fischer, N. Duong, A. Huebner, E. John, K. Wagner, M. Speicher, M. Wehnert

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

132

G.P.5.07 Nuclear changes in muscular dystrophy associated with nuclear envelopathy

Y. Hayashi, M. Astejada, Y. Park, I. Nonaka, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

133

G.P.5.08 PCNA staining pattern is altered in Emery–Dreifuss fibroblasts

A. Zamparelli, G. Lattanzi, J. Colomer, L. Merlini, N. Maraldi, P. Sabatelli

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

134

G.P.5.09 Pre-lamin A is modulated during muscle cell differentiation. Implications for Emery–Dreifuss muscular dystrophy

C. Capanni, S. Squarzoni, E. Mattioli, V. Cenni, M. Columbaro, N. Maraldi, L. Merlini, G. Lattanzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

135

G.P.5.10 MAPK signaling pathway is commonly activated in hearts of mouse models of autosomal dominant and X-linked Emery–Dreifuss muscular dystrophy

A. Muchir, P. Pavlidis, V. Decostre, A. Herron, T. Arimura, Y. Hayashi, G. Bonne, H. Worman

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

136

G.P.5.11 Deletion of lamin A/C lysine 32 is responsible for abnormal muscle maturation associated with proliferation and differentiation defects in mice

A. Bertrand, L. Renou, L. Gueneau, C. Massart, S. Varnous, E. Lacene, S. Stora, Y. Fromes, T. Arimura, A. Mura, M. Malissen, G. Bonne

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

137

G.P.5.12 Glutathione depletion in Emery–Dreifuss muscular dystrophy. Treatment of KI-LmnaH222P mice with the glutathione precursor N-Acetyl-L-Cysteine

V. Decostre, L. Khouzami, S. Varnous, P. Caramelle, M. Perier, C. Adamy, T. Arimura, G. Candiani, C. Massart, C. Meune, F. Pecker, G. Bonne

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

138

G.P.6.01 NPC1 overexpression attenuates muscular dystrophy in mdx and α-dystrobrevin-null mice

M. Steen, Y. Tesch, M. Adams, S. Froehner

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

139

G.P.6.02 In vitro activities and in vivo pharmacokinetics of dual cysteine proteases inhibitors and antioxidant

B. Pignol, S. Auvin, D. Carre, P. Chabrier

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

140

G.P.6.03 Anti-TNF-alpha therapy (cV1q, Remicade, Enbrel) protects dystrophic skeletal muscle from necrosis

M. Grounds, H. Radley

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

141

G.P.6.04 Imatinib mesilate (Gleevec®) ameliorates the dystrophic phenotype in exercised mdx mice

J. Bizario, D. Cerri, F. Matioli, P. Morales, L. Couto, F. Castro, M. Costa

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

142

G.P.6.05 Stretch-induced muscle damage in mdx mice is reduced by the antioxidant N-acetylcysteine

N. Whitehead, C. Pham, D. Allen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

143

G.P.6.06 Treatment with the proteasomal inhibitor Velcade rescues the dystrophin complex in experimental and pathological models of muscular dystrophies

E. Gazzerro, S. Assereto, F. Sotgia, F. Zara, R. Biancheri, C. Bruno, M. Lisanti, C. Minetti

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

144

G.P.6.07 Mycophenolate mofetil’s beneficial effects on skeletal muscle in the mdx mouse

J. Strober, T. Rando

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

145

G.P.6.08 Comparison of the effects of chronic treatments with drugs targeting different disease-related pathways in dystrophic mdx mice

J. Rolland, R. Burdi, A. Cozzoli, V. Giannuzzi, A. Liantonio, V. Cippone, D. Mangieri, G. Camerino, G. Nicchia, A. Frigeri, F. Andreetta, P. Confalonieri, B. Nico, A. De Luca

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

146

G.P.6.09 Medical food in mdx mice: Isoflavones ameliorate muscle function and pathology

S. Messina, A. Mazzeo, A. Bitto, M. Aguennouz, A. Migliorato, M. Monici, M. De Pasquale, F. Squadrito, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

147

G.P.6.10 Systemically-administered biglycan upregulates utrophin and counters dystrophic pathology in mdx mice: A novel pharmacological approach for DMD therapy

A. Amenta, B. McKechnie, M. Abedi, J. Fallon

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

148

G.P.6.11 T- and B-lymphocytes depletion has a great effect on the fibrosis of the dystrophic skeletal muscles in the scid/mdx mouse

A. Farini, M. Meregalli, M. Belicchi, M. Battistelli, D. Parolini, G. D’Antona, M. Gavina, R. Bottinelli, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

149

G.P.6.12 TRPC1 is increased in mdx mouse and binds to Caveolin-3: Implications for Duchenne muscular dystrophy

O. Gervasio, N. Whitehead, D. Allen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

150

G.P.6.13 Myo/endothelial properties of the human blood-derived CD133 subpopulation isolated from normal and dystrophic subjects

M. Meregalli, M. Belicchi, A. Farini, G. D’Antona, M. Gavina, D. Parolini, S. Maciotta, L. Porretti, C. Marchesi, R. Bottinelli, N. Bresolin, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

151

G.P.6.14 Cardiac characterization of mdx mice using high-resolution echocardiography

A. Fayssoil, G. Renault, C. Marchiol-Fournigault, D. Fradelizi, M. Rosier-Montus, I. Richard, F. Fougerousse

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

152

G.P.6.15 Novel application of FACS: Determination of muscle fibre types and protein levels in whole murine skeletal muscles and heart

C. Jackaman, G. Ravenscroft, E. Lim, S. Clement, K. Nowak, N. Laing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

153

G.P.6.16 The characters of soleus muscle fibers of mdx mice with different distribution of myonuclei

M. Terada, F. Kawano, Y. Higo, T. Ohira, X. Wang, N. Nakai, Y. Ohira

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

154

G.P.7.01 Facioscapulohumeral muscular dystrophy: A review of 76 patients

M. Gomez-Moreno, P. Carnal-Martin, P. Camaño, A. Alonso-Ortiz, E. Gutierrez-Rivas

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

155

G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy

E. Pastorello, P. Tonin, T. Mongini, L. Palmucci, G. Siciliano, A. Rimini, C. Angelini, G. Tomelleri, C. Trevisan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

156

G.P.7.03 Facioscapulohumeral dystrophy presenting as axial myopathy

K. Eger, K. Traufeller, J. Hobohm, M. Deschauer, S. Zierz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

157

G.P.7.04 Beevor’s sign in facioscapulohumeral dystrophy

K. Eger, B. Jordan, S. Habermann, S. Zierz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

158

G.P.7.05 Self reported fatigue and pain compared to physical abilities in patients with facioscapulohumeral muscular dystrophy and to their healthy relatives

S. Bertelsen, J. Rahbek, B. Steffensen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

159

G.P.7.06 The significance of prenatal genetical testing in Hungarian FSHD families

J. Balogh, H. Piko, R. Horvath, Z. Ban, V. Karczagi, P. Mayer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

160

G.P.7.07 Efficacy and safety of salbutamol in the treatment of facioscapulohumeral muscular dystrophy

C. Payant, J. Pouget, C. Desnuelle, S. Attarian, V. Doppler, J. Hogrel, G. Ollivier, B. Eymard, P. Laforêt

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

161

G.P.7.08 FRG1 over-expression induces severe dystrophic phenotype in mouse

J. Dumonceaux, C. Berger, S. Marie, L. Garcia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

162

G.P.7.09 Study of the D4Z4 methylation level at chromosome 4 in Spanish patients with FSHD phenotype and negative molecular diagnosis

P. Camano, O. Zuriarrain, J. de Greef, J. Poze, C. Marquez, A. Lopez de Munain

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

163

G.P.7.10 Clinical and genetic characterization of a new X-linked dominant scapuloperoneal myopathy

C. Quinzii, E. Bonilla, T. Vu, R. Grewal, K. Tanji, A. Kattah, P. Camano, D. Otaegui, D. Blake, K. Wilhelmsen, L. Rowland, A. Hays, M. Hirano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

164

G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy

A. Behin, P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre, B. Eymard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

165

G.P.7.12 Living with OPMD

S. Venance, W. Koopman

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

166

G.P.7.13 Gene expression profiling in a skeletal muscle cell model of oculopharyngeal muscular dystrophy reveals an extracellular matrix defect

E. Sterrenburg, S. Routledge, B. van der Sluijs, C. van der Wees, B. van Engelen, M. Antoniou, S. van der Maarel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

167

G.P.7.14 Protocol of autologous myoblast transplantation in the pharyngeal muscles to correct dysphagia in patients with oculopharyngeal muscular dystrophy

G. Butler-Browne, S. Périé, B. Bouazza, F. Svinartchouk, K. Mamchaoui, J. Marolleau, B. Eymard, V. Mouly, J. Lacau St. Guily

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

168

G.P.8.01 Genotype–phenotype study of cardiomyopathy in patients with LGMD2 and BMD

M. Sveen, J. Thune, L. Køber, J. Vissing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

169

G.P.8.02 Laminin β1 staining in muscle biopsies referred for suspected limb-girdle muscular dystrophy

A. Aboumousa, R. Charlton, R. Barresi, C. Fiorillo, L. Anderson, V. Straub, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

170

G.P.8.03 Clinical, genetic and epidemiological study of prevalent autosomal recessive limb girdle muscular dystrophies in Croatia

N. Canki-Klain, M. Zagar, T. Alfirevic-Ungarov, A. Miliæ, M. Malnar, Z. Mitroviæ, D. Vranješ, B. Kovaè, L. Cvitanovic-Sojat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

171

G.P.8.04 Clinical and genetical variability in a large sample of LGMD Italian patients

F. Magri, M. Guglieri, M. D’Angelo, R. Cagliani, R. Del Bo, S. Ghezzi, D. Ronchi, A. Prelle, C. Lamperti, F. Fortunato, L. Morandi, M. Mora, M. Moggio, N. Bresolin, G. Comi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

172

G.P.8.05 Muscle biopsy immunoanalysis and genetic outcome

C. Fiorillo, R. Charlton, J. Hudson, A. Aboumousa, V. Straub, R. Barresi, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

173

G.P.8.06 Limb-girdle muscular dystrophies: DNA test following protein test or not?

S. Aurino, M. Cacciottolo, G. Piluso, G. Numitone, H. Topaloglu, C. Angelini, C. Minetti, L. Politano, V. Nigro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

174

G.P.8.07 The phenotype of LGMD1D

S. Sandell, O. Raheem, J. Sarparanta, H. Haapasalo, P. Hackman, B. Udd

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

175

G.P.8.08 Caveolin-3 T78K and T78M missense mutations lead to different phenotypes in vivo and in vitro

M. Traverso, E. Gazzerro, S. Assereto, L. Giberti, M. Pedemonte, R. Biancheri, S. Scapolan, F. Sotgia, M. Donati, F. Zara, C. Bruno, M. Lisanti, C. Minetti

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

176

G.P.8.09 Exercise intolerance and rippling syndrome in caveolinopathy

F. Barroso, M. Nogués, R. Leiguarda, A. Taratuto

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

177

G.P.8.10 Muscle imaging in familial asymptomatic hyperCKemia due to mutations in caveolin-3 gene

C. Paradas, P. Gallano, L. Gonzalez-Quereda, N. De Luna, L. Gonzalez, M. Olivé

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

178

G.P.8.11 The expression of caveolin-3 and its related limb girdle muscular dystrophy 1-c mutants in myoblasts: Physiological and pathological aspects

A. Fanzani, E. Stoppani, A. Musaro, R. Giuliani, F. Colombo, S. Rossi, A. Preti, S. Marchesini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

179

G.P.8.12 Molecular characterization and clinical update on one of the earliest described families with severe childhood autosomal recessive muscular dystrophy (SCARMD)

M. Salih, J.A. Urtizberea, F. Leturcq, M. Mukhtar, L. Anderson, K. Bushby

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

180

G.P.8.13 Cardiomyopathy in sarcoglycanopathies

S. Schade van Westrum, W. de Voogt, L. Dekker, I. Ginjaar, M. de Visser, A. van der Kooi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

181

G.P.8.14 Monitoring of the muscular function in sgca-null mice

F. Fougerousse, B. Giannesini, M. Durand, N. Guerchet, D. Bendahan, P. Cozzonne, I. Richard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

182

G.P.8.15 Limb girdle muscular dystrophy 2G and novel TCAP mutations in ethnic Chinese

W. Yee, Z. Pramono, C. Tan, P. Kathiravelu, P. Lai

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

183

G.P.9.01 Impact of prenatal diagnosis on the incidence of DMD in the Netherlands

A. Helderman-van den Enden, H. Ginjaar, E. Bakker

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

184

G.P.9.02 Red-green color vision impairment in Duchenne muscular dystrophy

M. Costa, A. Oliveira, C. Santana, D. Ventura, M. Zatz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

185

G.P.9.03 Respiratory kinematics in Duchenne muscular dystrophy

A. LoMauro, M. D’Angelo, A. Pedotti, E. Marchi, D. Colombo, A. Turconi, N. Bresolin, A. Aliverti

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

186

G.P.9.04 Evaluation and relevance of evaluation tools of cardiac function in Duchenne muscular dystrophy

Y. Park, J. Moon, S. Im

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

187

G.P.9.05 The role of ACE inhibitor therapy in presymptomatic cardiomyopathy in Duchenne muscular dystrophy

M. Kinali, R. Robinson, L. Sagi, P. Nihoyannopoulos, A. Manzur, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

188

G.P.9.06 Impaired response to low-dose dobutamine stress in Duchenne muscular dystrophy

L. Markham, P. Khoury, S. Witt, B. Wong, D. Benson, L. Cripe

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

189

G.P.9.07 MRI in Duchenne muscular dystrophy: Quantification of fat infiltration and gadolinium uptake using whole-muscle regions of interest

P. Garrood, K. Hollingsworth, P. Thelwall, D. Birchall, M. Eagle, K. Bushby, V. Straub

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

190

G.P.9.08 Duchenne muscular dystrophy – decreased bone turnover and bone mineral density

A. Ahlander, A. Söderpalm, P. Magnusson, J. Karlsson, A. Kroksmark, M. Tulinius, D. Swolin-Eide

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

191

G.P.9.09 Immediate release oral pentoxifylline is poorly tolerated in Duchenne muscular dystrophy boys

D. Escolar, C. Tesi-Rocha, P. Clemens, S. Iannaccone, A. Pestronk, N. Kuntz, A. Zimmerman, E. Henricson, A. Arrieta, L. Nei, B. Markle, A. Connolly

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

192

G.P.9.10 Clinical development of the French UMD–DMD database

V. Humbertclaude, S. Tuffery-Giraud, R. Ben Yaou, D. Hamroun, P. Khau Van Kien, F. Leturcq, J. Chelly, M. Claustres, C. Béroud

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

193

G.P.10.01 Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

U. Schara, H. Christen, M. Hietala, Z. Hoovey, K. Krabetz, C. Rodolico, G. Schreiber, H. Topaloglu, W. Voss, A. Abicht, J. Müller, H. Lochmüller

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

194

G.P.10.02 Dok-7 myasthenia: Clinical spectrum, endplate electrophysiology and morphology, 12 novel DNA rearrangements, and genotype-phenotype relations in a Mayo cohort of 13 patients

D. Selcen, M. Milone, X. Shen, J. Brengman, A. Stans, M. Harper, A. Engel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

195

G.P.10.03 Therapeutic effects of ephedrine in congenital myasthenic syndrome due to DOK7 mutations

U. Schara, M. Deschauer, M. Wendt, N. Strigl-Pill, J. Müller, A. Abicht, H. Lochmüller

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

196

G.P.10.04 Long term positive response to cholinesterase inhibitors in a patient with DOK7 mutation

J. Colomer, A. Nascimento, J. Müller, H. Lochmülller, V. Cusi, J. Corbera

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

197

G.P.10.05 Successful long-term treatment of MuSK antibody-positive myasthenia gravis with rituximab, a follow up

B. Jordan, K. Eger, M. Deschauer, S. Zierz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

198

G.P.10.06 Myasthenia and arthrogryposis multiplex congenita

K. Hoffmann, J. Müller, A. Michalk, H. Lochmüller, S. Mundlos, M. Martelli, A. Kaindl, C. Hübner

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

199

G.P.10.07 Arthrogryposis multiplex congenita caused by maternal antibodies against fetal acetylcholine receptor subunits

J. Reimann, N. Kau, A. Vincent, C. Kornblum

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

200

G.P.10.08 Fetal myasthenia and arthrogryposis multiplex congenita caused by mutation in the fetal γ-subunit of the acetylcholine receptor (CHRNG): Escobar syndrome

A. Nascimento, J. Colomer, C. Fons, J. Müller, V. Mihaylova, C. Jimenez-Mallabrera, H. Lochmüller

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

201

G.P.10.09 Mega-esophagus associated with myasthenia gravis: A case report

V. Van Parijs, G. Desuter, H. Piessevaux, P. Van den Bergh

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

202

G.P.10.10 Genetic analysis of congenital Lambert-Eaton syndrome

M. Milone, R. Scola, A. Engel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

203

G.P.10.11 Tubular aggregates: Do they help in diagnosing neuromuscular disorders?

S. Portaro, C. Rodolico, O. Musumeci, A. Ciranni, A. Garufi, A. Migliorato, F. Valenti, C. Messina, G. Vita, A. Toscano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

204

G.P.10.12 Genotype/phenotype relationship between ClC-1 channel mutations and transient weakness in myotonia congenita

J. Desaphy, J. Rolland, E. Valente, M. LoMonaco, D. Conte Camerino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

205

G.P.10.13 Genotype-phenotype correlations for the skeletal muscle chloride- and sodium-channelopathies

J. Trip, G. Drost, I. Ginjaar, A. van der Kooi, N. Notermans, J. van Oostrom, J. Verschuuren, M. de Visser, B. van Engelen, C. Faber

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

206

G.P.10.14 Mutational analysis of CLCN1 in Korean patients with myotonia congenita

D. Kim, H. Kim, Y. Park, Y. Choi, I. Moon

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

207

G.P.10.15 Genotype–phenotype correlation and identification of new mutations in non-dystrophic myotonias

N. Dupre, N. Chrestian, D. Brunet, J. Bouchard, J. Mathieu, J. Puymirat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

208

G.P.10.16 A successful therapeutic result in Morvan’s fibrillary chorea

A. Nucci, M. França Jr, B. Pfeilsticker, S. Garibaldi, F. Pereira, R. Mussi, K. Metze

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

209

G.P.11.01 Slow disease progression and prolonged survival in a patient with sporadic amyotrophic lateral sclerosis (ALS): A 28-year follow-up

A. Pou-Serradell, I. Royo, J. Pascual-Calvet

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

210

G.P.11.02 Adult-onset lower motor neuron disease: Clinical analysis among patients with and without deletions on the SMN gene

A. Pou-Serradell, E. Tizzano, M. Barceló

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

211

G.P.11.03 Familial ALS with bulbo-spinal presentation

S. Blumen, R. Carasso, P. Nisipeanu, N. Blumen, P. Andersen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

212

G.P.11.04 ALS8: Description of the first European case and investigations on the functional effects of the causative VAPB mutation

M. Esser, A. Funke, M. Deschauer, S. Zierz, E. Brauers, K. Reiss, J. Weis, A. Kruettgen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

213

G.P.11.05 A family with an autosomal dominant phenotype consistent with primary lateral sclerosis

N. Dupre, P. Valdmanis, J. Bouchard, G. Rouleau

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

214

G.P.11.06 Fas siRNA mediated interference reduces motor neuron death in amyotrophic lateral sclerosis mouse model

S. Corti, F. Locatelli, D. Papadimitriou, F. Fortunato, R. Del Bo, C. Donadoni, M. Nizzardo, M. Nardini, S. Salani, S. Ghezzi, S. Strazzer, N. Bresolin, G. Comi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

215

G.P.11.07 AAV mediated gene transfer of IGF-1 and VEGF to the ventricular system provides significant therapeutic benefit in a mouse model of amyotrophic lateral sclerosis

J. Dodge, C. Treleaven, W. Yang, J. Clarke, H. Martin, C. Handy, M. Hester, T. Taksir, D. Griffiths, S. Cheng, B. Kaspar, L. Shihabuddin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

216

G.P.11.08 Intrathecal injection of epidermal growth factor and fibroblast growth factor 2 promotes proliferation of neural precursor cells in the spinal cords of mice with mutant human SOD1 gene

Y. Ohta, K. Tatsushi, T. Kuraka, N. Morimoto, M. Nagai, K. Abe

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

217

G.P.11.09 Hip dysplasia in children and adults with hereditary motor and sensory neuropathy

M. James, N. Kiely

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

218

G.P.11.10 Charcot-Marie-Tooth (CMT) disease caused by 17p11.2-p12 duplication in a large cohort of Polish patients

A. Kochanski, D. Kabzinska, J. Pierscinska, I. Hausmanowa-Petrusewicz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

219

G.P.11.11 Hereditary neuropathies in children – The Portuguese reality

T. Moreno, M. Santos, M. Fonseca, J. Monteiro, J. Vieira, I. Fineza, P. Cabral, J. Ferreira, C. Moço, F. Furtado

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

220

G.P.11.12 Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-Tooth disease associated with mutations in the GDAP1 gene

A. Bouhouche, H. Azzedine, O. Dubourg, A. Benomar, H. Belaidi, M. Yahyaoui, E. Le Guern, R. Ouazzani, N. Birouk

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

221

G.P.11.13 Molecular study of a Mexican family with PMP22 duplication with great phenotypic variability

M. Arenas-Sordo, E. Hernández-Zamora, R. Gómez-Ortega, M. Valdés-Flores, M. Castillo-Herrera, S. Lona-Pimentel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

222

G.P.11.14 Detection of auditory neuropathy in a Charcot-Marie-Tooth patient type 1 with neurophysiological studies

R. Escobar, A. Ortiz, A. Miranda, B. Flores

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

223

G.P.11.15 Differences in gait kinematics in people with Charcot-Marie-Tooth disease using different types of AFO

B. Killen, Z. Robertson, M. Phillips

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

224

M.P.3.01 Clinical, morphological, biochemical and genetic variability in pure mitochondrial myopathies of childhood onset

E. Wilichowski, E. Hobbiebrunken, W. Schulz-Schaeffer, K. Gempel, W. Sperl, H. Goebel, F. Hanefeld, J. Gärtner

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

225

M.P.3.02 Pontocerebellar hypoplasia and severe white matter volume reduction in a lethal case of mitochondrial encephalomyopathy

R. Biancheri, A. Pessagno, A. Rossi, D. Cassandrini, F. Zara, T. Priolo, C. Minetti, F. Santorelli, C. Bruno, E. Bertini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

226

M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene mutations

H. Topaloglu, K. Gempel, B. Talim, P. Schneiderat, B. Schoser, H. Volkmar, G. Kale, A. Tokatli, C. Quinzii, M. Hirano, A. Naini, S. Di Mauro, H. Prokisch, H.H. Lochmüller, R. Horvath

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

227

M.P.3.04 Phenotypic variations in patients with linker-region mutations in the mitochondrial DNA polymerase gamma gene

C. Kornblum, M. Baron, M. Boes, G. Zsurka, W. Kunz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

228

M.P.3.05 CoQ10 deficiency: Clinical and genetic studies

C. Quinzii, L. Lopez Garcia, A. Naini, S. Di Mauro, M. Hirano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

229

M.P.3.06 Genotypes and phenotypes associated with Alpers syndrome

M. Tulinius, G. Kollberg, A. Moslemi, E. Holme, A. Oldfors, N. Darin, I. Bjarnadottir

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

230

M.P.3.07 Clinical presentations of mitochondrial respiratory chain disorders in children: Usefulness of a diagnosis score

J. Cuisset, G. Briand, C. Maurage, J. Cuvellier, A. Moerman, S. Auvin, S. Joriot, L. Vallée

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

231

M.P.3.08 Resistance exercise training in mitochondrial myopathy due to single, large-scale deletions: Implications for therapy

T. Taivassalo, J. Gardner, R. Taylor, A. Schaefer, R. Haller, D. Taylor

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

232

M.P.3.09 Lactate is fuel for working muscle in patients with mitochondrial myopathy

T. Dysgaard Jeppesen, M. Orngreen, G. Van Hall, J. Vissing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

233

M.P.3.10 In situ analysis of apoptosis and oxidative stress in mitochondrial myopathies

G. Fayet, K. Auré, K. Lombès

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

234

M.P.3.11 Aconitase deficiency in mitochondrial myopathy: An index of oxidative stress

R. Haller, M. Gunder, K. Heinicke, T. Taivassalo

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

235

M.P.3.12 Characterization of COX16, a novel human gene required for cytochrome c oxidase assembly

S. Sacconi, E. Trevisson, A. Casarin, L. Salviati, C. Desnuelle

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

236

M.P.3.13 Vascular endothelium involvement in mitochondrial diseases

G. Vattemi, P. Minuz, L. Grigoli, A. Meneguzzi, P. Tonin, M. Marini, M. Degan, D. Benedetti, M. Filosto, N. Rizzuto, A. Lechi, G. Tomelleri

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

237

M.P.3.14 Secondary reduction in calpain 3 expression in P-phenylenediamine-induced mitochondrial myopathy

M. Goicoechea, A. Gil, I. Uriarte, Y. Campos, F. García-Bragado, L. Blázquez, D. Otaegui, A. Sáenz, O. Zuriarrain, A. López de Munain

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

238

M.P.3.15 Pupillographic findings in chronic progressive external ophthalmoplegia

L. Lachenmayer, S. Paus, J. Reimann, M. Abele, C. Kornblum

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

239

C.I.1 Congenital muscular dystrophy and dystroglycan glycosylation

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

240

C.I.2 An update on the congenital muscular dystrophies

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

241

C.I.3 Overview of congenital myopathies

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

242

C.I.4 Myofibrillar myopathies

D. Selcen, A. Engel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

243

C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form

A. Nicot, A. Toussaint, V. Tosch, C. Kretz, C. Wallgren-Pettersson, E. Iwarsson, H. Kingston, J. Garnier, V. Biancalana, J. Mandel, J. Laporte

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

244

C.O.2 Efficacy of autologous stem cell transplantation in a patient with late-onset nemaline myopathy and monoclonal gammopathy

O. Benveniste, O. Dubourg, N. Romero, M. Fardeau, S. Herson, V. Leblond, B. Eymard, P. Laforêt

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

245

C.O.3 Endoplasmic reticulum retention of COL6 chains in Ullrich congenital muscular dystrophy

V. Allamand, C. Gartioux, E. Lacène, J. Lainé, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Viollet, P. Jeannet, D. Herlicoviez, M. Penniello-Valette, P. Richard, B. Estournet, N. Romero, P. Guicheney

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

246

C.O.4 Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy

T. Voit, S. Cirak, S. Abraham, I. Karakesisoglou, E. Parano, P. Pavone, R. Falsaperla, H. Amthor, J. Schroeder, F. Muntoni, P. Guicheney, P. Nurnberg, A. Noegel, R. Herrmann

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

247

C.P.1.01 Congenital fiber type disproportion and noncompaction cardiomyopathy in a patient

S. Sampaolo, A. Varone, D. Diodato, G. Limongelli, V. Sannino, P. Calabrò, R. Calabrò, G. Di Iorio

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

248

C.P.1.02 Clinical and histopathological evolution of a calpain-3 deficiency presenting as congenital fiber type disproportion

G. Vattemi, F. Gualandi, P. Tonin, P. Rimessi, M. Marini, M. Filosto, A. Ferlini, G. Tomelleri

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

249

C.P.1.03 TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype

N. Clarke, H. Kolski, D. Dye, E. Lim, R. Smith, R. Patel, M. Fahey, N. Laing, K. North

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

250

C.P.1.04 Defining diagnostic boundaries for congenital fibre type disproportion

N. Clarke, R. Smith, A. Kornberg, L. Shield, J. Manson, A. Beggs, K. North

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

251

C.P.1.05 Congenital fibre type disproportion associated with de novo mutations in TPM3 and ACTA1 genes

N. Monnier, A. Labarre-Vila, M. Commare, P. Mezin, S. Drouhin, I. Marty, J. Lunardi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

252

C.P.1.06 Germline mosaicism resulting in the birth of two children with severe neonatal nemaline myopathy

C. White, S. Owen, N. Laing, J. Fenton-May

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

253

C.P.1.07 Exercise intolerance as a presentation of adult onset nemaline (rod) myopathy

C. Dejthevaporn, S. Phudhichareonrat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

254

C.P.1.08 A homozygous deletion of TPM3 causing severe nemaline myopathy in two Turkish sib pairs from separate families

V. Lehtokari, K. Pelin, K. Donner, T. Voit, S. Rudnik-Schöneborn, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

255

C.P.1.09 Clinicopathological features in seven Korean patients with nemaline myopathy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

256

C.P.1.10 Molecular mechanisms underlying X-linked myotubular myopathy

D. Sanoudou, C. Kretz, A. Beggs, J. Laporte, A. Buj-Bello, J. Mandel, L. Al-Qusairi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

257

C.P.1.11 Regulation of nebulin pre-mRNA splicing

S. Ranta, K. Pelin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

258

C.P.1.12 One causative gene, TPM2, and two congenital myopathies. A functional study

D. Brudzewsky, M. Marttila, E. Nuutinen, S. Ollila, K. Donner, K. Pelin, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

259

C.P.1.13 A homozygous null mutation in TPM2 gene causes autosomal recessive nemaline myopathy associated with multiple pterygia

P. Jouk, A. Labarre-Vila, P. Mezin, S. Drouhin, I. Marty, J. Lunardi, N. Monnier

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

260

C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?

C. Vincitorio, V. Carmignac, M. Beuvin, B. Estournet, S. Quijano-Roy, A. Barois, F. Boyer, Y. Chaix, B. Eymard, N. Goemans, S. Iannaccone, L. Lazaro, D. Menard, V. Straub, P. Richard, L. Viollet, E. B

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

261

C.P.1.15 Myosin storage myopathy with a novel slow-skeletal myosin (MYH7) mutation in a Chinese patient

J. Chai, C. Liu, P. Lai, W. Yee

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

262

C.P.1.16 Skeletal muscle pathology in distal arthrogryposis associated with novel mutations in the embryonic myosin heavy chain gene MYH3

H. Tajsharghi, E. Kimber, A. Kroksmark, M. Tulinius, A. Oldfors

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

263

C.P.1.17 β-Tropomyosin mutations alter tropomyosin isoforms expression in skeletal muscle

J. Nilsson, A. Oldfors, H. Tajsharghi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

264

C.P.1.18 Distal arthrogryposis: Clinical, molecular genetic and muscle pathology findings

E. Kimber, A. Kroksmark, H. Tajsharghi, A. Oldfors, M. Tulinius

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

265

G.P.12.01 Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: A double trouble in two adjacent genes

M. Messina, M. Aguennouz, C. Rodolico, T. Aversa, O. Musumeci, G. Vita, N. Lanzano, I. Rulli, F. De Luca

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

266

G.P.12.02 How much dystrophin to avoid muscular dystrophy?

M. Neri, S. Torelli, I. Ugo, S. Brown, C. Sewry, P. Sabatelli, L. Merlini, P. Spitali, F. Gualandi, E. Calzolari, A. Ferlini, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

267

G.P.12.03 Telomere shortening and telomere-associated proteins in Duchenne muscular dystrophy

G.L. Vita, M. Aguennouz, L. Cama, M. De Pasquale, N. Lanzano, A. Ciranni, C. Rodolico, C. Messina, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

268

G.P.12.04 Extraocular muscles buffer calcium better than limb muscle: Implications for preferential sparing in Duchenne muscular dystrophy

U. Zeiger, M. Wiesen, C. Mitchell, T. Khurana

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

269

G.P.12.05 The topographic distribution of the dystrophin brain isoform in the human cardiac muscle: Implications for the pathogenesis of the x-linked dilated cardiomyopathy

M. Neri, F. Gualandi, P. Rimessi, M. Bovolenta, G. Alfano, S. Banfi, E. Calzolari, F. Muntoni, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

270

G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies

F. Gualandi, P. Rimessi, S. Fini, C. Trabanelli, A. Venturoli, E. Martoni, M. Bovolenta, P. Spitali, M. Fabris, L. Merlini, E. Calzolari, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

271

G.P.12.07 Reduced differentiation potential in Duchenne muscular dystrophy with increasing dystrophy

M. Kottlors, J. Kirschner

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

272

G.P.12.08 Characterization of muscle-specific expression of miRNAs in Duchenne muscular dystrophy

S. Maciotta, M. Meregalli, A. Farini, M. Belicchi, D. Parolini, N. Bresolin, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

273

G.P.12.09 Designing of a high density microarray for the definition of the dystrophin gene transcriptome

M. Bovolenta, P. Spitali, M. Fabris, E. Martoni, E. Calzolari, P. Rimessi, F. Gualandi, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

274

G.P.12.10 Gene expression profiling of blood in subjects with Duchenne muscular dystrophy and related disorders

B. Wong, D. Gilbert, W. Walker, I. Liao, H. Xu, J. Gregg, M. Apperson, F. Sharp

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

275

G.P.12.11 Do revertants increase with age in Duchenne muscular dystrophy boys?

V. Arechavala-Gomeza, M. Kinali, L. Feng, G. Edge, D. Hunt, J. Lehovsky, D. Chambers, V. Straub, K. Bushby, C. Sewry, J. Morgan, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

276

G.P.12.12 Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies

L. Feng, C. Jimenez-Mallebrera, R. Quinlivan, F. Muntoni, C. Sewry

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

277

G.P.12.13 High expression of galectins-1 and -3 in dystrophin-deficient muscles: Effect of regeneration or degeneration?

L. Yamamoto, R. Chammas, M. Zatz, M. Vainzof

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

278

C.P.2.01 “Marionette syndrome” or hypotonia, hyperlaxity and ataxia

J. Colomer, H. Gálvez, A. Nascimento, J. Corbera, V. Cusi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

279

C.P.2.02 Neuromuscular involvement in Ehlers-Danlos syndrome

N. Voermans, N. Alfen, M. Zwarts, M. Lammens, J. Schalkwijk, B. Hamel, B. Engelen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

280

C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients

S. Quijano-Roy, V. Allamand, N. Riahi, C. Gartioux, L. Briñas, D. Leclair-Richard, R. Zeller, C. Ledeuil, M. Commare, L. Viollet, C. Bönnemann, M. Mayer, D. Chaigne, N. Essid, F. Renault, A. Barois, A

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

281

C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich

Y. Zou, J. Schessl, A. Lampe, Y. Hu, C. Jiménez-Mallebrera, G. Schreiber, I. Stolte-Dijkstra, A. Fock, M. Chu, K. Bushby, R. Weiss, K. Flanigan, F. Muntoni, C. Bönnemann

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

282

C.P.2.05 Molecular analysis of COL6 genes in patients with Bethlem myopathy and Ullrich congenital muscular dystrophy

E. Martoni, P. Sabatelli, M. Fabris, E. Mercuri, M. Pane, S. Messina, E. Ricci, E. Bertini, A. D’Amico, M. Maioli, G. Marrosu, N. Carboni, E. Calzolari, L. Merlini, F. Gualandi, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

283

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

P. Richard, C. Ledeuil, C. Gartioux, L. Torrieri, L. Briñas, A. Ferreiro, A. Toutain, S. Makri, E. Ollagnon, B. Eymard, S. Quijano-Roy, B. Estournet, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

284

C.P.2.08 Phenotype and long-term follow-up in juvenile patients with selenoprotein N-related myopathy (SEPN1-RM)

M. von der Hagen, W. Kress, C. Bönnemann, N. Breitbach-Faller, C. Korenke, G. Schreiber, M. Stoetter, E. Wilichowski, A. Ferreiro, U. Schara

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

285

C.P.2.09 Patient missense mutations near the SEPN1 UGA-SEC codon can alter selenocysteine incorporation

B. Maiti, A. Ferreiro, P. Richard, K. Flanigan, M. Howard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

286

C.P.2.10 A patient with RSMD1 associated with the particular SEPN1 c.G872A mutation

S. Makri, P. Richard, N. Terki, I. Bezier, M. Ait-Kaci, P. Guicheney

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

287

C.P.2.11 Expression of selenoprotein N in mice during development and in muscle regeneration

P. Castets, S. Maugenre, M. Rederstorff, A. Lescure, A. Krol, V. Allamand, P. Guicheney

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

288

C.P.2.12 Congenital muscular dystrophy with mental retardation, dilated cardiomyopathy and abnormally located mitochondria

B. Talim, B. Koksal, Z. Akcoren, M. Topcu, D. Alehan, G. Kale, H. Topaloglu

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

289

C.P.2.13 Widening the LAMA2 mutation spectrum in MDC1A patients: New mutations including gross deletions

J. Oliveira, I. Soares-Silva, P. Jorge, E. Vieira, M. Oliveira, R. Santos

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

290

C.P.2.14 Merosin-deficient congenital muscular dystrophy: Analysis of 7 patients

R. Erazo, M. Schultz, A. Taratuto, A. Wicki, M. Pimstein, A. Henríquez, E. Bertini, J. Carrasco, G. Bascuñán, E. Rodillo, J. Latorre

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

291

C.P.2.15 Cib2 in muscular dystrophy

M. Häger, Å. Mikael, V. Allamand, M. Dubeej-Hjalt

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

292

C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation

L. Briñas, C. Gartioux, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Merlini, H. Topaloglu, F. Roelens, V. Hovers, P. Jeannet, B. Estournet, P. Richard, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

293

G.P.13.01 Prevalence of sporadic inclusion body myositis (s-IBM) in Turkey: A muscle biopsy based survey

P. Serdaroglu, F. Deymeer, Y. Parman

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

294

G.P.13.02 Myopathy with autophagic vacuoles in a patient with CDG type I

M. Santos, E. Martins, D. Quelhas, A. Guimarães

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

295

G.P.13.03 Familial late-onset inclusion body myositis in a search of a gene

M. Dunand, J. Lobrinus, P. Richard, R. Bernard, N. Levy, T. Kuntzer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

296

G.P.13.04 IBMPFD mutations in p97/VCP cause the accumulation of ubiquitinated proteins via impairment in the ubiquitin-proteasome pathway

C. Weihl, S. Miller, A. Pestronk, P. Hanson, G. Watts, V. Kimonis

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

297

G.P.13.05 Valosin-containing protein gene mutations: Clinical and histopathologic features in a series of 16 patients

T. Stojkovic, E. Hammouda, P. Richard, A. Lopez de Munain, I. Pénisson-Besnier, X. Ferrer, A. Lacour, G. Bassez, L. Lacomblez, E. Lacene, B. Eymard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

298

G.P.13.06 Sporadic inclusion body myositis (sIBM): A phenotypic spectrum in a cohort of 57 cases

M. Needham, A. Corbett, T. Day, F. Mastaglia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

299

G.P.13.07 Prevalence and diagnosis of sporadic inclusion body myositis (sIBM) in Western Australia

M. Needham, A. Corbett, T. Day, V. Fabian, F. Mastaglia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

300

G.P.13.08 Dysphagia as presenting symptom of sIBM–morphological analysis of the cricopharyngeal muscle as a clue to the correct diagnosis

C. Lindberg, A. Oldfors

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

301

G.P.13.09 Proteomic analysis of distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM)

M. Malicdan, S. Noguchi, G. Kawahara, Y. Hayashi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

302

G.P.13.10 Proteomic analysis of myotubes from hereditary inclusion body myopathy

S. Mitrani-Rosenbaum, I. Salama, I. Milman, Z. Shlomai, A. Dagan, H. Ben Bassat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

303

G.P.13.11 Amyloid β accumulation in skeletal muscle due to chloroquine-treatment causes endoplasmic reticulum stress, probably followed by the activation of autophagy

K. Ikezoe, H. Furuya, N. Fujii

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

304

G.P.13.12 Muscle pathology in a mouse model of gelsolin amyloidosis is similar to human inclusion body myositis

G. Shelton, L. Page, Y. Jiang, W. Balch, J. Kelly, A. Mizisin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

305

G.P.13.13 Age-related abnormalities and reduced expression of the Notch ligand Delta in IBM primary muscle cultures. A clue for diminished regenerative potential of satellite cells in IBM muscle?

C. Gliubizzi, R. Morosetti, C. Sancricca, A. Broccolini, T. Gidaro, G. Tasca, P. Tonali, E. Ricci, M. Mirabella

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

306

G.P.13.14 Ex vivo treatment with TSA and IGF-1 induces myogenic differentiation of inclusion-body myositis mesoangioblasts

R. Morosetti, C. Gliubizzi, A. Broccolini, T. Gidaro, C. Sancricca, P. Tonali, E. Ricci, G. Cossu, M. Mirabella

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

307

G.P.13.15 In sporadic inclusion-body myositis muscle-fiber (s-IBM) cytoplasm, cytochrome C aggregates with α-synuclein and amyloid-β precursor protein (AβPP), but does not activate caspase-3

S. Wojcik, O. Paciello, W.K. Engel, V. Askanas

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

308

G.P.13.16 Vacuolar myopathies. A morphological approach

S. Teijeira, B. San Millan, J. Fernandez, S. Miranda, I. Vieitez, C. Navarro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

309

G.P.13.17 Recombinant mapping of MHC susceptibility region in sporadic inclusion body myositis (sIBM)

A. Scott, N. Laing, F. Mastaglia, M. Needham, M. Walter, M. Dalakas, R. Allcock

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

310

G.P.14.01 Survey of postural balance and quality of life with health aspects in patients with myotonic dystrophy type 1 (DM1)

E. Hammarén, J. Ohlsson, G. Kjellby-Wendt, C. Lindberg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

311

G.P.14.02 Relation between plasma glucose and insulin secretion in myotonic dystrophy: Evaluation by glucose tolerance test

H. Takada, S. Kon, Y. Oyama, T. Gotoh

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

312

G.P.14.03 A cross-sectional study for glucose intolerance of myotonic dystrophy

T. Matsumura, H. Iwahashi, P. Takahashi, T. Saito, K. Yasui, T. Saito, A. Iyama, K. Toyooka, H. Fujimura, S. Shinno

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

313

G.P.14.04 Oxidative stress markers are reduced after cysteine donor enriched dietary intake in myotonic dystrophy type I

L. Volpi, M. Falorni, C. Carlesi, G. Ricci, L. Petrozzi, M. Franzini, A. Paolicchi, G. Siciliano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

314

G.P.14.05 Heart rate variability in Steinert disease

A. Palladino, M. Scutifero, V. Ventriglia, P. Sannino, M. Di Gregorio, R. Russo, G. Nigro, V. Cozza, E. Bonifazi, G. Novelli, G. Nigro, L. Politano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

315

G.P.14.06 There is no correlation between muscle strength and myotonia in patients with myotonic dystrophy type 1

N. Preisler, M. Cathrine Orngreen, G. Andersen, T. Dysgaard Jeppesen, E. Colding-Jorgensen, T. Clausen, M. Schwartz, M. Duno, J. Vissing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

316

G.P.14.07 RNA fluorescence in situ hybridization analysis of fetal tissues from a family affected by myotonic dystrophy

Z. Lukas, I. Kroupova, M. Falk, I. Valaskova, L. Fajkusova, J. Sedlackova

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

317

G.P.14.08 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

A. Herczegfalvi, H. Piko, H. Merkli, R. Horvath, J. Balogh, V. Karcagi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

318

G.P.14.09 Functional characterization of skeletal muscles in DM1 mice

A. Ferry, G. Gourdon, A. Huguet, G. Butler-Browne, D. Furling, A. Vignaud

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

319

G.P.14.10 Inhibition of prostaglandin E2 (PGE2) production restores the differentiation of congenital human dystrophy myotonic type 1 (CDM1) myoblasts

J. Puymirat, D. Beaulieu, P. Chapdelaine, D. Furling

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

320

G.P.14.11 Myotonic dystrophy type 2 in South Moravian region of Czech Republic

S. Vohanka, J. Bednarik, L. Fajkusova, J. Sedlackova

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

321

G.P.14.12 Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings

V. Pisani, A. Botta, E. Bonifazi, M. Panico, G. Marfia, G. Bernardi, G. Novelli, R. Massa

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

322

G.P.14.13 Gastrointestinal symptoms in myotonic dystrophy type 2

J. van Vliet, A. Tieleman, J. Jansen, B. van Engelen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

323

G.P.14.14 Differences in aberrant expression and splicing of genes involved in Ca2+ metabolism between myotonic dystrophy type 2 (DM2) and type 1 (DM1)

A. Vihola, M. Sirito, L. Bachinski, S. Olufemi, O. Raheem, T. Suominen, B. Udd, R. Krahe

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

324

G.P.14.15 Brain involvement in myotonic dystrophy type 2

V. Romeo, A. Palmieri, F. Squarzanti, C. Ferrati, P. Zucchetta, R. Manara, C. Trevisan, E. Pegoraro, C. Angelini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

325

G.P.14.16 Myotonic dystrophy type 2 (DM2) may be misdiagnosed as fibromyalgia

T. Suominen, S. Auvinen, P. Hannonen, K. Kontula, R. Krahe, B. Udd

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

326

G.P.14.17 Abnormal expression of DMPK substrate phospholamban in DM2

O. Raheem, J. Holmlund-Hapf, A. Vihola, T. Suominen, H. Haapasalo, R. Krahe, B. Udd

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

327

M.P.4.01 Clinical aspects of McArdle disease in the UK

R. Quinlivan, M. James, J. Buckley, D. Short, C. Bruno, D. Cassandrini, J. Winer, M. Roberts, M. Rose, C. Sewry

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

328

M.P.4.02 Permanent muscle weakness in McArdle disease

A. Nadaj-Pakleza, C. Vincitorio, P. Laforêt, B. Eymard, S. Teijeira, M. Jeanpierre, C. Navarro, T. Stojkovic

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

329

M.P.4.03 Transcript analysis for molecular characterization of “manifesting heterozygotes” patients with McArdle disease

I. Garcia-Consuegra, J. Rubio, G. Nogales, A. Delmiro, A. Blazquez, A. Lucia, A. Andreu, J. Arenas, M. Martin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

330

M.P.4.04 A pilot study of neuropsychological performance in McArdle disease

N. Edelstyn, R. Quinlivan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

331

M.P.4.05 Randomized placebo controlled double blind pilot trial of Ramipril in McArdle disease patients

A. Liava, E. Trevisi, M. Frare, C. Tonon, E. Malucelli, D. Manners, G. Kemp, C. Testa, B. Barbiroli, R. Lodi, A. Martinuzzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

332

M.P.4.06 Model systems for developing therapies for McArdle disease

K. Wright, G. Morris, C. Sewry, R. Quinlivan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

333

M.P.4.07 Investigating GSD type III patients with multi-parametric functional NMR imaging and spectroscopy

C. Wary, A. Nadaj-Pakleza, C. Baligand, A. Monnet, P. Labrune, B. Eymard, P. Laforêt, P. Carlier

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

334

M.P.4.08 Are oxidative capacity and glycolysis affected in X-linked phosphorylase b kinase deficiency?

M. Orngreen, J. Schelhaas, T. Dysgaard Jeppesen, O. Akman, R. Wevers, S. Tvede Andersen, H. ter Laak, O. van Diggelen, B. van Engelen, S. Di Mauro, J. Vissing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

335

M.P.4.09 Clinical heterogeneity of autophagic vacuolar myopathies

A. D′Amico, S. Petrini, C. Bruno, R. Boldrini, M. Scarpelli, E. Bertini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

336

M.P.4.10 Muscle pathological analysis for autophagic/lysosomal and endosomal pathways in Danon disease

K. Sugie, S. Noguchi, S. Ueno, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

337

M.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation

A. van der Kooi, E. Aronica, P. van Doorn, J. Wokke, I. van Langen, C. Langerhorst, R. Lekanne dit Deprez, L. Dekker, M. de Visser

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

338

M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome)

C. Bruno, E. Bertini, M. DiRocco, D. Cassandrini, G. Ruffa, T. DeToni, M. Spada, S. Li Volti, A. D’Amico, M. Seri, C. Casali, C. Angelini, C. Minetti, S. Di Mauro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

339

M.P.4.13 PNPLA2 mutations in two families with neutral lipid storage myopathy

C. Casali, F. Campagna, L. Nanni, E. Pennisi, C. Michailidis, C. Bruno, M. Hirano, F. Pierelli, M. Arca, S. Di Mauro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

340

M.P.4.14 Clinicopathological features of Japanese patients with PNPLA2 gene mutation

A. Ohkuma, Y. Hayashi, S. Noguchi, I. Nonaka, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

341

M.P.4.15 Adipose triglyceride lipase gene (PNPLA2) mutations in patients with myopathy related to neutral lipid storage disease

P. Laforêt, J. Mussini, C. Lacroix, E. Hammouda, Y. Chau Hu, C. Lefèvre, R. Salvayre, B. Eymard, J. Fischer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

342

M.P.4.16 Atypical clinical presentation of an infant with short chain acyl-CoA dehydrogenase (SCAD) deficiency

P. Fequiere, B. Wong, L. Miles, N. Gregersen, L. Wong, R. Hopkin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

343

M.P.4.17 Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) associated with novel ETFDH mutations in two Chinese patients

Z. Pramono, P. Lai, I. Tan, M. Lim, I. Seah, W. Yee

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

344

G.P.15.01 Pilot study to determine the transition needs of adolescents and adults with Duchenne muscular dystrophy

R. Viana, K. LaDonna, W. Koopman, C. Campbell, V. Schulz, S. Venance

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

345

G.P.15.02 The creation of a center for basic research and clinical assistance for muscular dystrophy patients: A way to avoid deaths and perform clinical trials

M. Bergamaschi, M. Favaro, A. Godoy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

346

G.P.15.03 A study of boys and men with Duchenne muscular dystrophy (DMD) in half the Norwegian population. 1. A 22 years follow up of a DMD population

R. Melsom, I. Lund-Petersen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

347

G.P.15.04 A study of boys and men with Duchenne muscular dystrophy in half the Norwegian population. 2. Health and social services

R. Melsom, I. Lund-Petersen

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 40 KB

english, 2007

348

G.P.15.05 A study of boys and men with Duchenne muscular dystrophy in half the Norwegian population. 3. Physical profile and self-evaluation

I. Lund-Petersen, R. Melsom

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 55 KB

english, 2007

349

G.P.15.06 Identification of psychosocial needs of adolescent/young adults with Duchenne muscular dystrophy

K. Kinnett, N. Weidner, M. Knue, B. Wong, L. Markham, L. Cripe

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

350

G.P.15.07 Palliative care services in families of males with Duchenne muscular dystrophy

F. Meaney, S. Pandya, J. Andrews, M. Davis

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

351

G.P.15.08 Language and reading disorders in Duchenne muscular dystrophy: Neuropsychological assessment

M. D’Angelo, F. Civati, M. Lorusso, A. Marini, G. Comi, A. Turconi, F. Fabbro, N. Bresolin

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

352

G.P.15.09 Memory deficit of children with Duchenne muscular dystrophy

L. Parisi, L. Firrigno, G. Bisconti, T. Di Filippo, D. Testa, M. Roccella

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 57 KB

english, 2007

353

G.P.15.10 Cognitive functions and associative sensory functions in patients with Duchenne/Becker muscular dystrophy

G. Sella, L. Carmo Júnior, A. Godoy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

354

G.P.15.11 Dis-authorizing the standard suffering: A novel treatment for the disabling social virus in patients with progressive neuromuscular disorders

J. Forbes, C. Riolfi, E. Rodrigues de Almeida, M. Vilela Nunes, E. Mendonça de Macedo, L. Magalhães Mrech, L. Lise, M. Zatz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

355

G.P.15.12 Quality of life in oculopharyngeal muscular dystrophy

J. Bachand, K. Ladonna, S. Venance, W. Koopman

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

356

G.P.15.13 Determinants of quality of life in adult muscle diseases

M. Rose, J. Weinman, S. Pandya, C. Jackson, D. Sanders, J. Kissel, R. Seyedsadjadi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

357

G.P.15.14 Personality in patients with inherited neuromuscular disorders and in their non-affected relatives

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

358

G.P.15.15 The SOLE questionnaire: Development and validation of a new instrument for measuring quality of life in children with neuromuscular disorders

S. Orcesi, K. Gorni, M. Rossi, A. Berardinelli, G. Ariaudo, E. Beghi, C. Lanzarotti, G. Apolone, A. Cattaneo, P. Mosconi, C. Angelini, E. Bertini, A. Pini, L. Palmucci, E. Mercuri, G. Lanzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

359

G.P.15.16 Importance of self-report in pediatric quality of life assessment: Experience with the SOLE questionnaire in children with neuromuscular disorders

G. Ariaudo, S. Orcesi, K. Gorni, Rossi, A. Berardinelli, E. Beghi, C. Lanzarotti, C. Angelini, E. Bertini, A. Pini, Palmucci, E. Mercuri, E. Fazzi, G. Lanzi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

360

G.P.15.17 Activity limitations in patients with neuromuscular disorders: A study on the responsiveness of the ACTIVLIM questionnaire

L. Vandervelde, P. Van den Bergh, J. Thonnard, N. Goemans

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

361

C.P.3.01 LGMD2I in a North American population

C. Feener, P. Kang, E. Estrella, B. Darras, A. Amato, L. Kunkel

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

362

C.P.3.02 Expanding the clinical spectrum of POMT1 and POMT2 phenotype: A multicentric study in the Italian population

S. Messina, M. Mora, E. Pegoraro, A. Pini, T. Mongini, A. D’Amico, M. Pane, C. Bruno, R. Biancheri, A. Berardinelli, A. Toscano, L. Morandi, I. Moroni, L. Farina, C. Uggetti, Pichiecchio, C. Scuderi,

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

363

C.P.3.03 Novel POMT2 mutations associated with a marked reduction of POMT activity causing congenital muscular dystrophy with mental retardation and microcephaly

A. Yanagisawa, C. Bouchet, H. Manya, S. Quijano-Roy, P. van den Bergh, L. Viollet, J. Cuisset, F. Leturcq, N. Romero, M. Fardeau, N. Seta, T. Endo, P. Guicheney

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

364

C.P.3.04 Mild POMGnT1 mutations underlie a novel limb girdle muscular dystrophy variant

C. Godfrey, E. Clement, J. Tan, M. Brockington, S. Torelli, L. Feng, S. Brown, C. Jimenez-Mallebrera, C. Sewry, C. Longman, R. Mein, S. Abbs, J. Vajsar, H. Schachter, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

365

C.P.3.05 MDC1D due to a large genomic insertion in LARGE that causes abnormal gene splicing

N. Clarke, S. Maugenre, J.A. Urtizberea, F. Gray, C. Bouchet, N. Seta, A. Mégarbané, P. Guicheney

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

366

C.P.3.06 Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies

E. Clement, E. Mercuri, M. Rutherford, J. Smith, K. North, M. Kinali, V. Straub, K. Bushby, F. Cowan, C. Godfrey, R. Quinlivan, H. Topaloglu, A. Klein, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

367

C.P.3.07 Muscle pathology in alpha-dystroglycanopathies with central nervous system malformation

B. Talim, G. Haliloglu, D. Orhan, S. Gucer, Z. Akcoren, G. Kale, H. Topaloglu

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

368

C.P.3.08 Biochemical approach for α-dystroglycanopathies: Identification of consensus sequence for protein O-mannosylation

H. Manya, T. Suzuki, K. Akasaka-Manya, N. Dohmae, T. Endo

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

369

C.P.3.09 Ultrastructural approach to molecularly defined FKRP-related muscular dystrophy

G. Cenacchi, E. Pegoraro, C. Boito, L. Tarantino, L. Badiali De Giorgi, C. Angelini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

370

C.P.3.10 Analysing the role of the α/β-dystroglycan interface for skeletal muscle stability

F. Sciandra, M. Bozzi, S. Morlacchi, M. Desimio, K. Gawlik, M. Durbeej, A. Brancaccio

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

371

C.P.3.11LARGE induced hyperglycosylation of alpha-dystroglycan as a therapeutic strategy in secondary dystroglycanopathies

M. Brockington, S. Torelli, S. Brown, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

372

C.P.3.12 POMGnT1-null myoblasts poorly proliferate in vitro

Y. Miyagoe-Suzuki, K. Miyamoto, F. Saito, K. Matsumura, H. Manya, T. Endo, S. Takeda

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

373

C.P.3.13 Silent exonic substitution in POMGnT1 promotes exon skipping in a CMD patient

J. Oliveira, I. Soares-Silva, A. Gonçalves, I. Fokkema, A. Cabral, L. Diogo, L. Galán, A. Guimarães, I. Fineza, J. den Dunnen, R. Santos

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

374

C.P.3.14 Basement membrane fragility underlies embryonic lethality in fukutin-null mice

M. Taniguchi, H. Kurahashi, C. Meno, Y. Taniguchi, S. Takeda, M. Horie, H. Otani, T. Toda

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

375

C.P.3.15 A new mouse model for dystroglycanopathies associated with mutations in FKRP

M. Ackroyd, M. Kaluarachchi, L. Skordis, R. Piercy, J. Godwin, F. Muntoni, S. Brown

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

376

C.P.3.16 Rimmed vacuoles in children: Highly specific indication for SIL1 mutation in Marinesco-Sjögren syndrome

M. Okada, S. Noguchi, I. Nonaka, M. Malicdan, M. Fujita, M. Ogawa, Y. Hayashi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

377

G.P.16.01 Human cellular models for muscular disorders as tools to study pathophysiology and to develop therapeutic approaches

K. Mamchaoui, A. Bigot, M. Jacquemin, K. Flanigan, W. Wright, G. Butler-Browne, V. Mouly

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

378

G.P.16.02 Muscle tissue engineering: Strategies for repair and regeneration in human degenerative muscle diseases

M. Melone, A. Calarco, O. Petillo, M. D’Apolito, M. Tanzi, S. Faré, G. Peluso

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 65 KB

english, 2007

379

G.P.16.03 Monitoring cell therapy protocols by 1H NMR imaging: Which class of contrast agent?

C. Baligand, K. Vauchez, J. Vilquin, M. Fiszman, P. Carlier

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

380

G.P.16.04 Ischemic central necrosis in pockets of transplanted myogenic cells in nonhuman primates: Implications for cell transplantation strategies

D. Skuk, M. Goulet, M. Paradis, J. Tremblay

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 50 KB

english, 2007

381

G.P.16.05 Ex vivo expansion of human circulating CD133+ progenitor cells: Promising tool for cell-based therapeutic approaches in muscular dystrophy

M. Belicchi, M. Meregalli, A. Farini, A. Cattaneo, C. Marchesi, L. Porretti, N. Bresolin, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 64 KB

english, 2007

382

G.P.16.06 Abundance of circulating progenitors with myo-endothelial potential correlates with a mild phenotype in patients affected by Duchenne muscular dystrophy

C. Marchesi, M. Belicchi, M. Meregalli, A. Farini, R. Lopa, M. Gavina, L. Porretti, D. Parolini, M. D’Angelo, N. Bresolin, G. Cossu, Y. Torrente

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

383

G.P.16.07 Formation and viability of spheroid-like structures in cultures of muscle biopsies. Uptake and characteristics of transport kinetics of 99mTc-Tetrofosmin: Preliminary results

I. Gati, O. Danielsson, T. Betmark, J. Ernerudh, K. Ollinger, N. Dizdar

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

384

G.P.16.08 CTGF regulation during myogenesis in vitro: Effect of CTGF on myogenic cells

I. Ambrosi, P. Noirez, V. Mouly, M. Fiszman, C. Dubois, H. Alameddine

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

385

G.P.16.09 Altered expression and modulation of extracellular matrix transcripts and proteins in primary DMD muscle cultures

S. Zanotti, S. Saredi, A. Ruggieri, F. Blasevich, S. Romaggi, L. Morandi, M. Mora

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

386

G.P.16.10 In vivo myogenic potential of human AC133 muscle-derived stem cells

E. Negroni, I. Riederer, J. Di Santo, Y. Torrente, V. Mouly, G. Butler-Browne

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

387

G.P.16.11 Flexor digitorum brevis dissociated muscle myofibre culture system: A more mature muscle culture system

G. Ravenscroft, K. Nowak, C. Jackaman, S. Clement, A. Bakker, N. Laing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

388

G.P.16.12 Development of a semi-manual device for multiple intramuscular cell injections

D. Skuk, P. Richard, C. Gosselin, M. Goulet, M. Paradis, J. Tremblay

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

389

G.P.16.13 Myogenic potential of human lipoaspirate cells

Y. Park, S. Im, E. Lee, B. Do, J. Moon

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

390

G.P.16.14 Human multipotent adipose derived stem cells restore dystrophin expression of Duchenne skeletal muscle cells in vitro

N. Vieira, M. Mitne, E. Zucconi, T. Jazedje, V. Nunes, B. Strauss, M. Vainzof, M. Zatz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

391

C.P.4.01 Clinical and cardiac MRI findings in primary desminopathies

T. Sommer, C. Grohé, C. Meyer, D. Fischer, M. Walter, M. Vorgerd, J. Reimann, B. Wintersperger, H. Lochmüller, R. Schröder

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

392

C.P.4.02 Muscle imaging differentiates primary desminopathies from myofibrillar myopathies

D. Fischer, R. Kley, K. Strach, A. Huebner, W. Kress, B. Udd, R. Schroeder, B. Eymard, M. Fardeau, L. Goldfarb, M. Vorgerd, M. Olivé

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

393

C.P.4.03 Right ventricular arrhythmic cardiomyopathy with an autosomal dominant R355P DES gene mutation

F. Ochsner, J. Lobrinus, X. Jeanrenaud, S. Rudnik-Schoenborn, T. Eggermann, M. Dunand, T. Kuntzer

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

394

C.P.4.04 Zaspopathy with multiminicores

S. Shalaby, Y. Hayashi, K. Goto, I. Nonaka, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

395

C.P.4.05 Zaspopathy as a cause of asymmetrical, predominantly distal vacuolar myopathy

A. Behin, T. Maisonobe, B. Udd, B. Eymard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

396

C.P.4.06 A novel myotilin mutation in exon 9: The first LGMD1A identified in Japan

S. Shalaby, Y. Hayashi, K. Goto, I. Nonaka, S. Noguchi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

397

C.P.4.07 Autosomal centronuclear myopathies: A clinicopathologic study of 16 cases

C. Pierson, E. DeChene, C. Kretz, J. Laporte, M. Barger, A. Geggel, A. Beggs

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

398

C.P.4.08 Screening for mutations in the dynamin 2 gene in Brazilian patients with centronuclear myopathy and Charcot-Marie-Tooth neuropathy

K. Sell, L. Yamamoto, F. Velloso, A. Cerqueira, E. Zanoteli, L. Chimelli, F. Kashiwagi, M. Zatz, M. Vainzof

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

399

C.P.4.09 Dynamin 2 mutations in the pleckstrin homology domain cause severe neonatal centronuclear myopathy

M. Bitoun, J. Bevilacqua, B. Prudhon, A. Taratuto, S. Monges, F. Lubieniecki, C. Cances, E. Uro-Coste, M. Mayer, M. Fardeau, P. Guicheney, N. Romero

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

400

C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy

A. Toussaint, A. Nicot, N. Dondaine, C. Kretz, C. Poirson, E. Zanoteli, C. Wallgren-Pettersson, A. Echaniz-Laguna, L. Bomme Ousager, A. Krause, C. Jern, L. Merlini, A. Oliveira, V. Biancalana, J. Mand

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

401

C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

L. Pirra, A. Dubrovsky, M. Bitoun, P. Guicheney, N. Romero, M. Sacolitti, A. Taratuto

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

402

C.P.4.12 Molecular determinants of dominant and recessive forms of structural congenital myopathies with cores

N. Monnier, I. Marty, P. Therier, S. Drouhin, J. Faure, J. Lunardi

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

403

C.P.4.13 A RYR1-linked dominant core myopathy presenting with predominant distal involvement (foot drop): Clinical and morphological variability

B. Ryniewicz-Job, A. Nadaj-Pakleza, M. Beuvin, N. Monnier, A. Ferreiro, A. Kaminska

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

404

C.P.4.14 Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy

R. Quinlivan, C. Sewry, C. Muller

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

405

C.P.4.15 King-Denborough syndrome caused by a novel mutation in RYR1

C. D’Arcy, L. Shield, R. Gillies, A. Bjorksten, C. McLean, M. Ryan

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

406

C.P.4.16 Core myopathy without mutations in RYR1 or SEPN1 genes

C. Jimenez-Mallebrera, H. Zhou, A. Manzur, L. Feng, C. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

407

G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy

M. Auer-Grumbach, E. John, W. Wallefeld, C. Fischer, M. Speicher, N. Laing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

408

G.P.17.02 New c-terminal titin mutations in Europeans with tibial muscular dystrophy (TMD)

P. Hackman, S. Marchand, I. Pénisson-Besnier, E. Hammouda, I. Illa, B. Eymard, J. Pardal-Fernandez, I. Richard, B. Udd

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

409

G.P.17.03 Altered proteolysis of C-terminal titin caused by TMD/LGMD2J mutations

J. Sarparanta, A. Vihola, P. Hackman, I. Richard, B. Udd

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

410

G.P.17.04 Reduced force generation and atrophy impair overall physical performance of a mouse model for distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM)

M. Malicdan, S. Noguchi, Y. Hayashi, I. Nishino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

411

G.P.17.05 Predictive role of NCAM in the identification of patients with HIBM due to GNE mutations with atypical clinical phenotype

A. Broccolini, C. Rodolico, T. Gidaro, R. Di Leo, G. Silvestri, R. Morosetti, C. Gliubizzi, C. Di Blasi, L. Morandi, M. Mora, A. Toscano, G. Vita, E. Ricci, P. Tonali, M. Mirabella

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

412

G.P.17.06 Late-onset rod myopathy with monoclonal immunoglobulin can be treatable with IVIG

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

413

G.P.17.07 Fever-responsive dysschwannian neuropathy (FRDN): Interferon-alpha 2a (Iα) treatment has produced remarkable recovery from total quadriplegia, the benefit now persisting 4 years beyond the 14 years of therapy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

414

G.P.17.08 Expressions of FOXO in inflammatory myositis

A. Ishii, N. Ohkoshi, A. Tamaoka

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

415

G.P.17.09 Clinical and pathological features of focal myositis

C. Rodolico, A. Mazzeo, A. Toscano, M. Gaeta, M. Aguennouz, G.L. Vita, M. Russo, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

416

G.P.17.10 Macrophagic myofasciitis-associated cognitive dysfunction

M. Couette, M. Boisse, R. Gherardi, P. Brugieres, P. Cesaro, X. Chevalier, A. Bachoud-Levi, F. Authier

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

417

G.P.17.11 Syrian hamster infected with Leishmania infantum: A new experimental model for inflammatory myopathies

O. Paciello, L. Gradoni, G. Oliva, L. Politano, S. Papparella

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

418

M.P.5.01 Two years follow-up of enzyme therapy in five children with Pompe disease

C. van Capelle, N. van der Beek, M. Hagemans, W. Arts, J. Jaeken, P. Lee, A. Reuser, A. van der Ploeg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

419

M.P.5.02 Enzymatic replacement therapy with rhGAA in Brazilian Pompe patients

M. Suely, G. Porta, M. Carvalho, A. Martins, A. Santarosa, C. Marrone, C. Berditchevesky, D. Horovitz, J. Llerena, M. Machado, R. Albuquerque, R. Pecchini, M. Souza

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

420

M.P.5.03 Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT)

A. Repetto, P. Bini, S. Ravaglia, A. Pichiecchio, A. Costa, E. Alfonsi, A. Lozza, C. Danesino, A. Minelli, M. Rossi, A. Moglia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

421

M.P.5.04 Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization

S. Ravaglia, A. Repetto, P. Bini, A. Costa, A. Pichiecchio, A. Lozza, E. Alfonsi, M. Rossi, P. De Filippi, P. Fratino, A. Moglia, C. Danesino

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

422

M.P.5.05 Myozyme treatment for adult onset Pompe disease

P. Flynn, L. Howard, P. Deegan, T. Cox

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

423

M.P.5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII)

C. Angelini, A. Toscano, T. Mongini, G. Comi, R. Gauthier, S. Servidei, S. Ravaglia, C. Bruno, C. Semplicini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

424

M.P.5.07 Evaluation of muscle strength and motor function in a boy with Pompe disease treated with Myozyme

M. Tulinius, A. Kroksmark

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

425

M.P.5.08 Physician reported outcomes of enzyme replacement therapy in older, severely affected patients with Pompe disease

A. van der Ploeg, D. Marsden

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

426

M.P.5.09 Pharmacological chaperone therapy for the treatment of Pompe disease: Deoxynojirimycin increases lysosomal levels and specific activity of acid alpha-glucosidase

B. Wustman, A. Powe Jr., J. Flanagan, R. Khanna, W. Liang, X. Wu, R. Dhulipala, R. Soska, E. Smith, C. Pine, E. Benjamin, D. Lockhart, K. Valenzano, H. Do

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

427

M.P.5.10 Efforts to enhance AAV8-mediated gene therapy of Pompe disease

R. Ziegler, S. Bercury, Y. Zhu, J. Foley, N. Gumlaw, D. Koeberl, R. Scheule, S. Cheng

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

428

G.P.18.01 Giant axonal neuropathy: Phenotype–genotype correlations in two cases with two novel mutations in the Gigaxonin gene

M. Tazir, K. Hühne, S. Nouioua, D. Grid, T. Hamadouche, B. Rautenstrauss, M. Vallat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

429

G.P.18.02 AAAS mutations in 124 families with triple A syndrome – An underdiagnosed cause of distal muscular atrophy

A. Huebner, M. Krumbholz, B. Kind, A. Kaindl, K. Koehler

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

430

G.P.18.03 Radiation therapy: An unusual cause of dropped head syndrome

A. Behin, T. Maisonobe, P. Bouche, B. Eymard

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

431

G.P.18.05 Myopathy and retinopathy are novel features in a patient with Mohr-Tranebjaerg syndrome

M. Bellan, C. La Morgia, R. Liguori, M. Villanova, R. Carroccia, P. Avoni, P. Barboni, R. Lodi, C. Tonon, F. Sadun, A. Baruzzi, V. Carelli

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

432

G.P.18.06 Gene expression profile in transthyretin related familial amyloidotic polyneuropathy

A. Mazzeo, M. Aguennouz, A. Toscano, G.L. Vita, M. Russo, C. Messina, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 60 KB

english, 2007

433

G.P.18.07 Psychosocial impact of presymptomatic genetic testing for familial amyloidotic polyneuropathy

A. Graceffa, A. Mazzeo, R. Dattola, A. Toscano, M. Russo, G.L. Vita, C. Messina, G. Vita

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

434

G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

N. Dupre, F. Gros-Louis, N. Chrestian, D. de Verteuil, B. Brais, J. Bouchard, G. Rouleau

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

435

G.P.18.09 Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene

P. Imbrici, F. Gualandi, M. D’Adamo, P. Cudia, D. De Grandis, A. Ferlini, M. Pessia

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

436

G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia

M. Mitne-Neto, F. Kok, C. Beetz, A. Pessoa, C. Bueno, Z. Graciani, M. Martyn, C. Monteiro, G. Mitne, P. Hubert, A. Nygren, M. Valadares, A. Cerqueira, A. Starling, T. Deufel, M. Zatz

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

437

G.P.18.11 Functional characterization of strumpellin, mutated in hereditary spastic paraplegia

P. Valdmanis, I. Meijer, E. Kabashi, P. Hince, P. Dion, G. Rouleau

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

438

G.P.18.12 Unique perineurial cells stuffed with collagen in Cogan’s syndrome

K. Nolte, V. Hans, P. Vieregge, J. Weis, J. Schröder

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

439

G.P.18.13 Staging long term denervated myofibers in rodent and human skeletal muscles

D. Biral, N. Adami, S. Caccavale, K. Rossini, U. Carraro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

440

G.P.19.01 Review of the use of a standardised clinic sheet to record patients followed up in adult muscle clinic

J. Fenton-May, M. Rogers, A. Clarke

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

441

G.P.19.02 Development of an upper limb gross motor functional scale for neuromuscular patients

E. Mazzone, S. Messina, M. Pane, M. Main, M. Pelliccioni, D. Ricci, E. Mercuri

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 43 KB

english, 2007

442

G.P.19.03 Working under stress: Premature aging of paravertebral muscles

C. Blechschmidt, T. Schulte, G. Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

443

G.P.19.04 Muscle strength and endurance: A successful key for injury prevention

L. Hébert, S. Nadeau

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

444

G.P.19.05 Statin associated myopathy with normal creatine kinase levels: Case report from a Norwegian family

K. Myreng, S. Lindal, I. Lund, E. Stensland, M. Troseid

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

445

G.P.19.06 Development of the MDA Monoclonal Antibody Resource for inherited neuromuscular diseases

T. Le, M. Nguyen Thi, G. Morris

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

446

G.P.19.07 Gene and protein expression of muscle specific genes in children

S. Petersson, H. Schroeder, C. Jensen, N. Illum

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

447

G.P.19.08 TNFα receptor signalling influences the expression of myosin heavy chain isoforms in musculus gastrocnemius of the mouse

B. De Paepe, K. Creus, S. D’hose, G. Brusselle, J. De Bleecker

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

448

G.P.19.09 The role of neuraminidase 1 in muscle atrophy

E. Zanoteli, E. Bonten, D. van de Vlekkert, L. Mann, A. d’Azzo

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

449

G.P.19.10 Ozz-E3 ligase expression during muscle regeneration

E. Zanoteli, Y. Campos, N. Vergani, X. Qiu, K. Oberoi, H. Hu, L. Mann, A. d’Azzo

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 62 KB

english, 2007

450

G.P.19.11 Peroxisome proliferators-activated receptor α (PPARα) agonist, WY-14,643, increased leucine-induced activation of translation initiation in C2C12 cells

N. Nakai, F. Kawano, M. Terada, Y. Ohira

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

451

G.P.19.12 Specific neuromuscular diseases in the Roma population living in Hungary

V. Karcagi, A. Herczegfalvi, J. Müller, A. Abicht, M. Walter, R. Horvath, H. Lochmüller, L. Kalaydjieva

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

452

T.I.1 Genetic regulation and asymmetric cell divisions in skeletal muscle during development and regeneration

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

453

T.I.2 Toward the cell therapy for muscular dystrophies

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

454

T.I.3 Are we any further in the treatment of muscular dystrophies?

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

455

T.O.1 Functional evaluation of dystrophic dogs treated by exon-skipping

I. Barthélémy, J. Thibaud, A. Vulin, D. Bertoldi, A. Goyenvalle, S. Lorrain, P. Dreyfus, P. Carlier, L. Garcia, S. Blot

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 47 KB

english, 2007

456

T.O.2 Systemic delivery of morpholino oligonucleotides to skip mutations in the dystrophin gene of the mouse and dog

T. Partridge, T. Yokota, Q. Lu, E. Hoffman, J. Alter, S. Takeda, M. Kobayashi, A. Nakamura

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

457

T.O.3 Transgenic expression of cardiac actin rescues skeletal actin-null mice

K. Nowak, G. Ravenscroft, C. Jackaman, E. Lim, S. Squire, A. Potter, R. Fisher, P. Morling, L. Griffiths, J. Papadimitriou, C. Sewry, V. Fabian, J. Lessard, K. Crawford, A. Bakker, K. Davies, N. Laing

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

458

T.O.4 Ribozyme-based gene therapy reverses muscle atrophy in a mouse model of myotonic dystrophy

G. Doucet, A. Vignaud, G. Gourdon, A. Ferry, D. Furling, J. Puymirat

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 51 KB

english, 2007

459

C.O.5 SEPN1-related myopathy: A defect in redox regulation

B. Moghadaszadeh, P. Aracena-Parks, M. Ronan, H. Gasmi, P. Agrawal, S. Hamilton, A. Beggs

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

460

C.O.6 Selenoprotein N, mutated in SEPN-related myopathy, protects human cells against oxidative stress

S. Arbogast, F. Muntoni, A. Ferreiro

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

461

C.O.7 Cap disease associated with mutations in the β-tropomyosin gene (TPM2)

M. Ohlsson, H. Tajsharghi, C. Lindberg, E. Lacène, A. Oldfors, M. Fardeau

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

462

Author Index

Journal:

Neuromuscular Disorders

Année:

2007

Fichier:

PDF, 105 KB

2007

463

From dog to man: The broad spectrum of inflammatory myopathies

G. Diane Shelton

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2007

464

PTC124, nonsense mutations and Duchenne muscular dystrophy

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 74 KB

english, 2007

465

Editorial Board

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 71 KB

english, 2007

466

WMS application form

Journal:

Neuromuscular Disorders

Année:

2007

Fichier:

PDF, 131 KB

2007

467

OBC: contents

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2007

468

13th International WMS Congress, 1-4 October 2008

Journal:

Neuromuscular Disorders

Année:

2007

Fichier:

PDF, 474 KB

2007

469

Forthcoming meetings

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 42 KB

english, 2007

470

(Contents continued on back matter)

Journal:

Neuromuscular Disorders

Année:

2007

Fichier:

PDF, 28 KB

2007

471

C.P.2.07 Autosomal recessive myosclerosis myopathy is a collagen type VI disorder

L. Merlini, P. Sabatelli, P. Guicheney, E. Martoni, F. Gualandi, A. Ferlini

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

472

G.P.18.04 Acute severe neuropathic pain induced by correction of serum glucose level in diabetic patients

R. Dabby, M. Sadeh, R. Gilad, Y. Lampl, A. Rapoport, N. Watemberg

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007