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1

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

Sarkozy, Anna, Torelli, Silvia, Mein, Rachael, Henderson, Matt, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Ala, Pierpaolo, Yau, Michael, Bertoli, Marta, Willis, Tracey, Hammans, Simon, Manzur, Adnan,

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2018

Langue:

english

Fichier:

PDF, 517 KB

english, 2018

2

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

Sardone, Valentina, Ellis, Matthew, Torelli, Silvia, Feng, Lucy, Chambers, Darren, Eastwood, Deborah, Sewry, Caroline, Phadke, Rahul, Morgan, Jennifer E., Muntoni, Francesco, Asakura, Atsushi

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 18.29 MB

english, 2018

3

Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?

Tomaso Gnecchi-Ruscone, Jackie Taylor, Eugenio Mercuri, Giovanni Paternostro, Robert Pogue, Kate Bushby, Caroline Sewry, Francesco Muntoni, Paolo G. Camici

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 127 KB

english, 1999

4

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

5

Chloroquine-induced cytosomes with curvilinear profiles in muscle

Dr. Hans E. Neville, Caroline A. Maunder-Sewry Ms., Dr. Jennifer McDougall, Dr. John R. Sewell, Dr. Victor Dubowitz

Journal:

Année:

1979

Langue:

english

Fichier:

PDF, 629 KB

english, 1979

6

Element analysis of skeletal muscle in duchenne muscular dystrophy using x-ray fluorescence spectrometry

Ms. Caroline A. Maunder-Sewry, Mr. Raphael Gorodetsky, Dr. Rena Yarom, Dr. Victor Dubowitz

Journal:

Année:

1980

Langue:

english

Fichier:

PDF, 550 KB

english, 1980

7

Long-term effects of botulinum toxin treatment on muscle morphology of the gastrocnemius in patients with cerebral palsy

John Patrick, Andrew Roberts, Caroline Sewry

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2006

8

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Fatemeh Geranmayeh, Emma Clement, Lucy H Feng, Caroline Sewry, Judith Pagan, Rachael Mein, Stephen Abbs, Louise Brueton, Anne-Marie Childs, Heinz Jungbluth, Christian G De Goede, Bryan Lynch, Jean-Pie

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 573 KB

english, 2010

9

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Katharine M.L. Forrest, Safa Al-Sarraj, Caroline Sewry, Stefan Buk, S. Veronica Tan, Matthew Pitt, Andrew Durward, Marilyn McDougall, Melita Irving, Michael G. Hanna, Emma Matthews, Anna Sarkozy, Judi

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 528 KB

english, 2011

10

Muscle Disease (Pathology and Genetics) || Clinical Features of Muscle Disease

Goebel, Hans H, Sewry, Caroline, Weller, Roy

Année:

2013

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2013

11

Muscle Disease (Pathology and Genetics) || Granulomatous and Other Immune-mediated Myopathies

Goebel, Hans H, Sewry, Caroline, Weller, Roy

Année:

2013

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2013

12

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis

Cox, Phillip M., Brueton, Louise A., Murphy, Karl W., Worthington, Viki C., Bjelogrlic, Predrag, Lazda, Edgar J., Sabire, Neil J., Sewry, Caroline A.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 841 KB

english, 1999

13

Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

Edith Said, Doriette Soler, Caroline Sewry

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 346 KB

english, 2012

14

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Caroline Godfrey, Diana Escolar, Martin Brockington, Emma M. Clement, Rachael Mein, Cecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, Susan C. Brown, Caroline A. Sewry, Mary Rutherford, Yehuda Sh

Journal:

Annals of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 503 KB

english, 2006

15

Nemaline myopathy caused by absence of α-skeletal muscle actin

Kristen J. Nowak, Caroline A. Sewry, Carmen Navarro, Waney Squier, Cristina Reina, Jose R. Ricoy, Sandeep S. Jayawant, Anne-Marie Childs, J. Angus Dobbie, Richard E. Appleton, Roger C. Mountford, Kend

Journal:

Annals of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2007

16

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro, Caroline Sewry, Anna V. Bite, Andrew G. Engel

Journal:

Annals of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 381 KB

english, 2009

17

Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development

K. Natalie Randles, Le Thanh Lam, Caroline A. Sewry, Megan Puckelwartz, Denis Furling, Manfred Wehnert, Elizabeth M. McNally, Glenn E. Morris

Journal:

Developmental Dynamics

Année:

2010

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2010

18

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Lain

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 375 KB

english, 2006

19

Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies

Y Chan N. Pham, Nguyen thi Man, Ian Holt, Caroline A. Sewry, Gurman Pall, Keith Johnson, Glenn E. Morris

Journal:

Journal of Cellular Biochemistry

Année:

2005

Langue:

english

Fichier:

PDF, 333 KB

english, 2005

20

Influenza A and rhabdomyolysis

William Foulkes, Jeremy Rees, Caroline Sewry

Journal:

Journal of Infection

Année:

1990

Langue:

english

Fichier:

PDF, 137 KB

english, 1990

21

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Martin Brockington, Susan C. Brown, Anne Lampe, Yeliz Yuva, Lucy Feng, Cecilia Jimenez-Mallebrera, Caroline A. Sewry, Kevin M. Flanigan, Kate Bushby, Francesco Muntoni

Journal:

Prenatal Diagnosis

Année:

2004

Langue:

english

Fichier:

PDF, 176 KB

english, 2004

22

Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle

Angela Clerk, Glenn E. Morris, Victor Dubowitz, Kay E. Davies, Caroline A. Sewry

Journal:

Journal of Molecular Histology

Année:

1993

Langue:

english

Fichier:

PDF, 775 KB

english, 1993

23

Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle

Angela Clerk, Glenn E. Morris, Victor Dubowitz, Kay E. Davies, Caroline A. Sewry

Journal:

Journal of Molecular Histology

Année:

1993

Langue:

english

Fichier:

PDF, 775 KB

english, 1993

24

Muscular dystrophies: an update on pathology and diagnosis

Caroline A. Sewry

Journal:

Acta Neuropathologica

Année:

2010

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2010

25

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Laura Machuca-Tzili, Helena Thorpe, Thelma E. Robinson, Caroline Sewry, J. David Brook

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 612 KB

english, 2006

26

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Isam Naom, Mariella D’Alessandro, Caroline Sewry, Alessandra Ferlini, Haluk Topaloglu, Anne Helbling-Leclerc, Pascale Guicheney, Ketty Schwartz, Zuhal Akcoren, Victor Dubowitz, F. Muntoni

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 387 KB

english, 1997

27

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

Tim P. Kerr, Caroline A. Sewry, Stephanie A. Robb, Roland G. Roberts

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 158 KB

english, 2001

28

Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome

Phillip M. Cox, Louise A. Brueton, Predrag Bjelogrlic, Penelope Pomroy, Caroline A. Sewry

Journal:

Pediatric and Developmental Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 292 KB

english, 2003

29

The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking

Darran Tunnah, Caroline A. Sewry, David Vaux, Eric C. Schirmer, Glenn E. Morris

Journal:

Journal of Molecular Histology

Année:

2005

Langue:

english

Fichier:

PDF, 408 KB

english, 2005

30

Pathological defects in congenital myopathies

Caroline A. Sewry

Journal:

Journal of Muscle Research and Cell Motility

Année:

2008

Langue:

english

Fichier:

PDF, 299 KB

english, 2008

31

Non-sarcolemmal Muscular Dystrophies

Susan C. Brown, Francesco Muntoni, Caroline A. Sewry

Journal:

Brain Pathology

Année:

2001

Langue:

english

Fichier:

PDF, 452 KB

english, 2001

32

The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss

Greener, Marc J, Sewry, Caroline A, Muntoni, Francesco, Roberts, Roland G

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 466 KB

english, 2002

33

Exon-specific dystrophin antibodies for studies of duchenne muscular dystrophy

Le Thanh Lam, Giang H. Nguyen, Nguyen thi Man, Caroline A. Sewry, Glenn E. Morris

Journal:

Translational Neuroscience

Année:

2010

Langue:

english

Fichier:

PDF, 2.17 MB

english, 2010

34

An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary α2 laminin deficiency unlinked to the LAMA2 locus on 6q22

Francesco Muntoni, Jacqueline Taylor, Caroline A Sewry, Isam Naom, Victor Dubowitz

Journal:

European Journal of Paediatric Neurology

Année:

1998

Langue:

english

Fichier:

PDF, 10.56 MB

english, 1998

35

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Ros Quinlivan, Caroline Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Koksal, Gulsev Kale, K

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 644 KB

english, 2011

36

Nemaline Myopathies

Carina Wallgren-Pettersson, Caroline A. Sewry, Kristen J. Nowak, Nigel G. Laing

Journal:

Seminars in Pediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2011

37

Core Myopathies

Heinz Jungbluth, Caroline A. Sewry, Francesco Muntoni

Journal:

Seminars in Pediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 995 KB

english, 2011

38

What's new in neuromuscular disorders? The congenital myopathies

Heinz Jungbluth, Caroline A Sewry, Francesco Muntoni

Journal:

European Journal of Paediatric Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 129 KB

english, 2003

39

Profound skeletal muscle depletion of α-dystroglycan in Walker-Warburg syndrome

Cecilia Jiménez-Mallebrera, Silvia Torelli, Susan C Brown, Lucy Feng, Martin Brockington, Caroline A Sewry, Daniel Beltrán-Valero De Bernabé, Francesco Muntoni

Journal:

European Journal of Paediatric Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 772 KB

english, 2003

40

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

EUGENIO MERCURI, CLAUDIO CINI, SERENA COUNSELL, JOANNA ALLSOP, ZUELLA ZOLKIPLI, HEINZ JUNGBLUTH, CAROLINE SEWRY, SUSAN C BROWN, GUGLIELMINA PEPE, FRANCESCO MUNTONI

Journal:

European Journal of Paediatric Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 338 KB

english, 2002

41

Congenital muscular dystrophies

Eugenio Mercuri, Caroline Sewry, Susan C. Brown, Francesco Muntoni

Journal:

Seminars in Pediatric Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2002

42

Investigating the pathology of Emery–Dreifuss muscular dystrophy

Brown, Susan C., Piercy, Richard J., Muntoni, Francesco, Sewry, Caroline A.

Journal:

Biochemical Society Transactions

Année:

2008

Langue:

english

Fichier:

PDF, 86 KB

english, 2008

43

Activity of creatine kinase in sera from healthy women, carriers of Duchenne muscular dystrophy and cord blood, determined by the “European” recommended method with NAC-EDTA activation

D.W. Moss, Katrine B. Whitaker, C. Parmar, J. Heckmatt, J. Witkowski, Caroline Sewry, V. Dubowitz

Journal:

Clinica Chimica Acta

Année:

1981

Langue:

english

Fichier:

PDF, 565 KB

english, 1981

44

Monoclonal antibodies against emerin, for the diagnosis of emery-dreifuss muscular dystrophy

Sushila Maniw, Nguyen thi Man, Caroline Sewry, Glenn E. Morris

Journal:

Neuromuscular Disorders

Année:

1996

Langue:

english

Fichier:

PDF, 106 KB

english, 1996

45

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

Steven Marston, Mahmooda Mirza, Hassan Abdulrazzak, Caroline Sewry

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 301 KB

english, 2004

46

Magnetic resonance imaging of muscle in nemaline myopathy

Heinz Jungbluth, Caroline A. Sewry, Serena Counsell, Joanna Allsop, Arijit Chattopadhyay, Eugenio Mercuri, Kathryn North, Nigel Laing, Graeme Bydder, Katarina Pelin, Carina Wallgren-Pettersson, France

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 195 KB

english, 2004

47

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

Heinz Jungbluth, Mark R. Davis, Clemens Müller, Serena Counsell, Joanna Allsop, Arijit Chattopadhyay, Sonia Messina, Eugenio Mercuri, Nigel G. Laing, Caroline A. Sewry, Graeme Bydder, Francesco Munton

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 241 KB

english, 2004

48

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

Biljana Ilkovski, Sophie Clement, Caroline Sewry, Kathryn N. North, Sandra T. Cooper

Journal:

Neuromuscular Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 279 KB

english, 2005

49

A case presenting with delayed motor milestones

Francesco Muntoni, Dimitrios I. Zafeiriou, Cecilia Jimenez, Arnold Reuser, Caroline Sewry

Journal:

Neuromuscular Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 78 KB

english, 2005

50

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D’Amico, Claudio Graziano, Giuseppe Pacileo, Stefania Petrini, Kristen J. Nowak, Renata Boldrini, Adam Jacques, Juan-Juan Feng, Berardino Porfirio, Caroline A. Sewry, Filippo M. Santorelli, Gius

Journal:

Neuromuscular Disorders

Année:

2006

Langue:

english

Fichier:

PDF, 720 KB

english, 2006