Volume 14; Issue 1

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Neuromuscular Disorders
Volume 14; Issue 1

Neuromuscular Disorders

Volume 14; Issue 1

1

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

M.M.O Tonini, M.R Passos-Bueno, A Cerqueira, S.R Matioli, R Pavanello, M Zatz

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 110 KB

english, 2004

2

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Eriko Yasaki, Cassandra Prioleau, Julien Barbier, Pascale Richard, Frédéric Andreux, Jean-Paul Leroy, Philippe Dartevelle, Jeanine Koenig, Jordi Molgó, Michel Fardeau, Bruno Eymard, Daniel Hantaı̈

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 461 KB

english, 2004

3

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy

V. Di Lazzaro, A. Oliviero, P.A. Tonali, L. Felicetti, M.B.P. De Marco, E. Saturno, F. Pilato, M. Pescatori, M. Dileone, P. Pasqualetti, E. Ricci

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

4

Muscle MRI in adult-onset acid maltase deficiency

Anna Pichiecchio, Carla Uggetti, Sabrina Ravaglia, Maria Grazia Egitto, Miriam Rossi, Giorgio Sandrini, Cesare Danesino

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 113 KB

english, 2004

5

117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands

Carina Wallgren-Pettersson, Kate Bushby, Uwe Mellies, Anita Simonds

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 174 KB

english, 2004

6

A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration

Andrew P. Weir, Jennifer E. Morgan, Kay E. Davies

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

7

2003 International Friedreich's Ataxia Research Conference, 14–16 February 2003, Bethesda, MD, USA

Hervé Seznec, Robert B Wilson, Hélène Puccio

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

8

Commentary from the Editor

Victor Dubowitz

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 48 KB

english, 2004

9

Clinical Neurology: Manson Publishing, 2002, ISBN 1-84076-010-9, 768 pages, £85.00

G.J. Hankey, J.M. Wardlaw

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 30 KB

english, 2004

10

Muscular Dystrophy – the Facts: Alan E.H. Emery; 2nd ed.; Oxford University Press, 2000, 157 pages, paperback, ISBN 0-19-263217-5, £12.99

Stephen Gazzard

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 30 KB

english, 2004

11

Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice, 3rd edition: Jun Kimura (Ed.); Oxford University Press, 2001, 9911 pages, hardback, ISBN 0-l9-512977-6, £105

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 35 KB

english, 2004

12

Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2–p21.32

Suna Önengüt, Sibel Aylin Uǧur, Hatice Karasoy, Nur Yüceyar, Aslıhan Tolun

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 289 KB

english, 2004

13

A novel mutation in the mitochondrial tRNAPhe gene associated with mitochondrial myopathy

A.-R. Moslemi, C. Lindberg, J. Toft, E. Holme, G. Kollberg, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 226 KB

english, 2004

14

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Christophe Béroud, Alain Carrié, Chérif Beldjord, Nathalie Deburgrave, Stéphane Llense, Nadège Carelle, Cécile Peccate, Jean-Marie Cuisset, Florence Pandit, Frédérique Carré-Pigeon, Michèle Mayer, Rém

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 301 KB

english, 2004

15

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 31 KB

english, 2004

16

Gene Location

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

17

Gene Mutation

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

18

Congenital

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 60 KB

english, 2004

19

Instructions to authors

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 42 KB

english, 2004

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