Hanns Lochmüller : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (241)
Les plus populaires
Liste
- Liste
- Tableau

1

Progress in rare diseases research 2010-2016: an IRDiRC perspective

Dawkins, Hugh JS, Draghia-Akli, Ruxandra, Lasko, Paul, Lau, Lilian PL, Jonker, Anneliene H, Cutillo, Christine M, Rath, Ana, Boycott, Kym M, Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Ya

Journal:

Clinical and Translational Science

Année:

2017

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2017

2

The spread of transgene expression at the site of gene construct injection

Amanda J. O'Hara, John McC Howell, Ross H. Taplin, Sue Fletcher, Frances Lloyd, Byron Kakulas, Hanns Lochmüller, George Karpati

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 312 KB

english, 2001

3

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle

Patrick Dunant, Maggie C. Walter, George Karpati, Hanns Lochmüller

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 606 KB

english, 2003

4

Muscle pathology in 57 patients with myotonic dystrophy type 2

Benedikt G.H. Schoser, Christiane Schneider-Gold, Wolfram Kress, Hans-Hilmar Goebel, Peter Reilich, Manuela C. Koch, Dieter E. Pongratz, Klaus V. Toyka, Hanns Lochmüller, Kenneth Ricker

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 508 KB

english, 2004

5

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

Lars Klinge, John Harris, Caroline Sewry, Richard Charlton, Louise Anderson, Steve Laval, Yen-Hui Chiu, Mark Hornsey, Volker Straub, Rita Barresi, Hanns Lochmüller, Kate Bushby

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2010

6

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 162 KB

english, 2009

7

Interventions for muscular dystrophy: molecular medicines entering the clinic

Kate Bushby, Hanns Lochmüller, Stephen Lynn, Volker Straub

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 419 KB

english, 2009

8

Strategies for muscle-specific targeting of adenoviral gene transfer vectors

Christian Thirion, Nancy Larochelle, Christoph Volpers, Patrick Dunant, Rolf Stucka, Paul Holland, Josephine Nalbantoglu, Stefan Kochanek, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 352 KB

english, 2002

9

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

Rodger, Sunil, Lochmüller, Hanns, Tassoni, Adrian, Gramsch, Kathrin, König, Kirsten, Bushby, Kate, Straub, Volker, Korinthenberg, Rudolf, Kirschner, Janbernd

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 640 KB

english, 2013

10

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation

Lorenzoni, Paulo José, Scola, Rosana Herminia, Kamoi Kay, Cláudia S., Lochmüller, Hanns, Werneck, Lineu Cesar

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 303 KB

english, 2013

11

Dystrophin Expression in Muscles of mdx Mice After Adenovirus-Mediated In Vivo Gene Transfer

Acsadi, Gyula, Lochmüller, Hanns, Jani, Agnes, Huard, Johnny, Massie, Bernard, Prescott, Stephen, Simoneau, Maude, Petrof, Basil J., Karpati, George

Journal:

Human Gene Therapy

Année:

1996

Langue:

english

Fichier:

PDF, 19.38 MB

english, 1996

12

International Charter of principles for sharing bio-specimens and data

Mascalzoni, Deborah, Dove, Edward S, Rubinstein, Yaffa, Dawkins, Hugh J S, Kole, Anna, McCormack, Pauline, Woods, Simon, Riess, Olaf, Schaefer, Franz, Lochmüller, Hanns, Knoppers, Bartha M, Hansson, M

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 380 KB

english, 2015

13

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

Boczonadi, Veronika, King, Martin S, Smith, Anthony C, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuo

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2018

14

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Verhaart, Ingrid E. C., Robertson, Agata, Wilson, Ian J., Aartsma-Rus, Annemieke, Cameron, Shona, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns

Journal:

Orphanet Journal of Rare Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 535 KB

english, 2017

15

GNE myopathy: from clinics and genetics to pathology and research strategies

Pogoryelova, Oksana, González Coraspe, José Andrés, Nikolenko, Nikoletta, Lochmüller, Hanns, Roos, Andreas

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 894 KB

english, 2018

16

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren G, Lochmüller, Hanns, Catt, Michael, Faber, Catha

Journal:

The Lancet Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 185 KB

english, 2018

17

Myologie et minorités ethniques

Urtizberea, J. Andoni, Lochmuller, Hanns, Tournev, Ivailo

Journal:

médecine/sciences

Année:

2015

Langue:

french

Fichier:

PDF, 5.43 MB

french, 2015

18

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Thompson, Rachel, Abicht, Angela, Beeson, David, Engel, Andrew G., Eymard, Bruno, Maxime, Emmanuel, Lochmüller, Hanns

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 404 KB

english, 2018

19

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

König, Kirsten, Pechmann, Astrid, Thiele, Simone, Walter, Maggie C., Schorling, David, Tassoni, Adrian, Lochmüller, Hanns, Müller-Reible, Clemens, Kirschner, Janbernd

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 814 KB

english, 2019

20

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

Christian Kubisch, Benedikt G. H. Schoser, Monika v. Düring, Regina C. Betz, Hans-Hilmar Goebel, Susanne Zahn, Antje Ehrbrecht, Jan Aasly, Anja Schroers, Nikola Popovic, Hanns Lochmüller, J. Michael S

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 702 KB

english, 2003

21

When running a stop sign may be a good thing

George Karpati, Hanns Lochmuller

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2001

22

Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation

Michaela Auer-Grumbach, Beate Schlotter-Weigel, Hanns Lochmüller, Gertrud Strobl-Wildemann, Piet Auer-Grumbach, Renate Fischer, Hans Offenbacher, Ernst Bernhard Zwick, Tanja Robl, Gerald Hartl, Hans-P

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 275 KB

english, 2005

23

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Benedikt G. H. Schoser, Patrick Frosk, Andrew G. Engel, Ursula Klutzny, Hanns Lochmüller, Klaus Wrogemann

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 426 KB

english, 2005

24

Treatment of glycogenosis type V with ketogenic diet

Verena Busch, Klaus Gempel, Alexandra Hack, Klaus Müller, Matthias Vorgerd, Hanns Lochmüller, Friedrich A. M. Baumeister

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 43 KB

english, 2005

25

Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle–immune interactions

Anne Waschbisch, Sabine Wintterle, Hanns Lochmüller, Maggie C. Walter, Jörg Wischhusen, Bernd C. Kieseier, Heinz Wiendl

Journal:

Arthritis & Rheumatism

Année:

2008

Langue:

english

Fichier:

PDF, 302 KB

english, 2008

26

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

Nigel G. Laing, Danielle E. Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas L. Winder, Hanns Lochmüller, Claudio Graziano, Stella Mitrani-Rosenbaum, Darren Tw

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 460 KB

english, 2009

27

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Kristian Borg, Rolf Stucka, Matthew Locke, Eva Melin, Gabrielle Åhlberg, Ursula Klutzny, Maja von der Hagen, Angela Huebner, Hanns Lochmüller, Klaus Wrogemann, Lars-Eric Thornell, Derek J. Blake, Bene

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 442 KB

english, 2009

28

New Treatments for Neuromuscular Disease: Optimism and Obstacles

Hanns Lochmüller, Robert C. Griggs

Journal:

Neurotherapeutics

Année:

2008

Langue:

english

Fichier:

PDF, 49 KB

english, 2008

29

Therapeutic Strategies in Congenital Myasthenic Syndromes

Ulrike Schara, Hanns Lochmüller

Journal:

Neurotherapeutics

Année:

2008

Langue:

english

Fichier:

PDF, 388 KB

english, 2008

30

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle

Christian Thirion, Rolf Stucka, Bettina Mendel, Albrecht Gruhler, Michaela Jaksch, Kristen J. Nowak, Nicolette Binz, Nigel G. Laing, Hanns Lochmüller

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 518 KB

english, 2001

31

A hot-spot for transposition of various Ty elements on chromosome V inSaccharomyces cerevisiae

Hanns Lochmüller, Rolf Stucka, Horst Feldmann

Journal:

Current Genetics

Année:

1989

Langue:

english

Fichier:

PDF, 590 KB

english, 1989

32

Das Muskeldystrophie-NetzwerkMD-NET

Hanns Lochmüller, Volker Straub

Journal:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Année:

2007

Langue:

german

Fichier:

PDF, 796 KB

german, 2007

33

Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients’ primary skeletal myoblasts

Stefanie Endesfelder, Alexander Kliche, Hanns Lochmüller, Arpad von Moers, Astrid Speer

Journal:

Journal of Molecular Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 286 KB

english, 2005

34

Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells

G. Acsadi, David O’Hagan, Hanns Lochmüller, Stephen Prescott, Nancy Larochelle, Josephine Nalbantoglu, Agnes Jani, George Karpati

Journal:

Journal of Molecular Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 705 KB

english, 1998

35

Elevated striatal dopamine transporter in a drug naive patient with Tourette syndrome and attention deficit/hyperactivity disorder: positive effect of methylphenidate

Klaus-Henning Krause, Stefan Dresel, Johanna Krause, Hank F. Kung, Klaus Tatsch, Hanns Lochmüller

Journal:

Journal of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 155 KB

english, 2002

36

Creatine monohydrate in myotonic dystrophy

Maggie C. Walter, Peter Reilich, Hanns Lochmüller, Ralph Kohnen, Beate Schlotter, Hubert Hautmann, Elmar Dunkl, Dieter Pongratz, Wolfgang Müller-Felber

Journal:

Journal of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 367 KB

english, 2002

37

Analysis of HLA class I and II alleles in sporadic inclusion-body myositis

JohannesB. Lampe, Gudrun Gossrau, Andrea Kempe, Monika Füssel, Katja Schwurack, Rolf Schröder, Sabine Krause, Ralf Kohnen, MaggieC. Walter, Heinz Reichmann, Hanns Lochmüller

Journal:

Journal of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 195 KB

english, 2003

38

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAValcausing MNGIE-like gastrointestinal dysmotility and cachexia

Rita Horváth, Andreas Bender, Angela Abicht, Elke Holinski-Feder, Birgit Czermin, Tobias Trips, Peter Schneiderat, Hanns Lochmüller, Thomas Klopstock

Journal:

Journal of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 421 KB

english, 2009

39

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill, Josef Müller-Höcker, Wolfram Kress, Andreas Ferbert, Sabine Rudnik-Schöneborn, Johannes Noth, Hanns Lochmüller,

Journal:

Journal of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 578 KB

english, 2010

40

Late-onset ptosis and myopathy in a patient with a heterozygous insertion inPOLG2

Maggie C. Walter, Birgit Czermin, Solvig Muller-Ziermann, Stefanie Bulst, Joanna D. Stewart, Gavin Hudson, Peter Schneiderat, Angela Abicht, Elke Holinski-Feder, Hanns Lochmüller, Patrick F. Chinnery,

Journal:

Journal of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 327 KB

english, 2010

41

Neuromuscular disorders and 2010: recent advances

Anna Sarkozy, Hanns Lochmüller

Journal:

Journal of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 141 KB

english, 2010

42

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

Peter Reilich, Sabine Krause, Nicolai Schramm, Ursula Klutzny, Stefanie Bulst, Barbara Zehetmayer, Peter Schneiderat, Maggie C. Walter, Benedikt Schoser, Hanns Lochmüller

Journal:

Journal of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 977 KB

english, 2011

43

Acute liver failure with subsequent cirrhosis as the primary manifestation ofTRMUmutations

Ulrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, Patrick Gerner, Angela Pyle, Paul M. Smith, Hanns Lochmüller, Birgit Czermin, Angela Abicht, Elke Holinski-Feder, Rita Horvath

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 560 KB

english, 2011

44

Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies

Dieter Heuss, Janine Klascinski, Steffen W. Schubert, Tehmur Moriabadi, Hanns Lochmüller, Said Hashemolhosseini

Journal:

Molecular and Cellular Biochemistry

Année:

2008

Langue:

english

Fichier:

PDF, 215 KB

english, 2008

45

Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes

Nancy Larochelle, Rolf Stucka, Norman Rieger, Lothar Schermelleh, Gudrun Schiedner, Stefan Kochanek, Eckhard Wolf, Hanns Lochmüller

Journal:

Transgenic Research

Année:

2011

Langue:

english

Fichier:

PDF, 393 KB

english, 2011

46

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy

Moll, Joachim, Barzaghi, Patrizia, Lin, Shuo, Bezakova, Gabriela, Lochmüller, Hanns, Engvall, Eva, Müller, Ulrich, Ruegg, Markus A.

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 450 KB

english, 2001

47

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

Janiesch, Philipp Christoph, Kim, Johnny, Mouysset, Julien, Barikbin, Roja, Lochmüller, Hanns, Cassata, Giuseppe, Krause, Sabine, Hoppe, Thorsten

Journal:

Nature Cell Biology

Année:

2007

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2007

48

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Ghezzi, Daniele, Goffrini, Paola, Uziel, Graziella, Horvath, Rita, Klopstock, Thomas, Lochmüller, Hanns, D'Adamo, Pio, Gasparini, Paolo, Strom, Tim M, Prokisch, Holger

Journal:

Nature Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 281 KB

english, 2009

49

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

Weraarpachai, Woranontee, Antonicka, Hana, Sasarman, Florin, Seeger, Jürgen, Schrank, Bertold, Kolesar, Jill E, Lochmüller, Hanns, Chevrette, Mario, Kaufman, Brett A, Horvath, Rita

Journal:

Nature Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 403 KB

english, 2009

50

Mutations in dynamin 2 cause dominant centronuclear myopathy

Bitoun, Marc, Maugenre, Svetlana, Jeannet, Pierre-Yves, Lacène, Emmanuelle, Ferrer, Xavier, Laforêt, Pascal, Martin, Jean-Jacques, Laporte, Jocelyn, Lochmüller, Hanns, Beggs, Alan H

Journal:

Nature Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 211 KB

english, 2005