Volume 12; Issue 7-8

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Neuromuscular Disorders
Volume 12; Issue 7-8

Neuromuscular Disorders

Volume 12; Issue 7-8

1

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

Jennifer L Dawkins, Sonal Brahmbhatt, Michaela Auer-Grumbach, Klaus Wagner, Hans-Peter Hartung, Kristien Verhoeven, Vincent Timmerman, Peter De Jonghe, Marina Kennerson, Eric LeGuern, Garth A Nicholso

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 48 KB

english, 2002

2

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD

Th Voit, E Parano, V Straub, J.M Schröder, J Schaper, P Pavone, R Falsaperla, L Pavone, R Herrmann

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 583 KB

english, 2002

3

Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients

E.A.C. Beenakker, J. de Vries, J.M. Fock, M. van Tol, O.F. Brouwer, N.M. Maurits, J.H. van der Hoeven

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 75 KB

english, 2002

4

Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

V.A. Street, G. Meekins, H.P. Lipe, W.K. Seltzer, G.T. Carter, G.H. Kraft, T.D. Bird

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 151 KB

english, 2002

5

Na+/Ca2+ exchange in human myotubes: intracellular calcium rises in response to external sodium depletion are enhanced in DMD

Emmanuel Deval, Dmitri O. Levitsky, Eric Marchand, Anne Cantereau, Guy Raymond, Christian Cognard

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 569 KB

english, 2002

6

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh, Nathalie Petit, Martin Brockington, Serena Counsell, Pascale Guicheney, Francesco Muntoni, Luciano Merlini

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 303 KB

english, 2002

7

Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, The Netherlands

Hans H Goebel, Michel Fardeau

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 80 KB

english, 2002

8

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

R.A.C van de Wetering, A.A.W.M Gabreëls-Festen, V Timmerman, G.W Padberg, F.J.M Gabreëls, E.C.M Mariman

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 101 KB

english, 2002

9

A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy

Robert W. Taylor, Andrew M. Schaefer, Robert McFarland, Paul Maddison, Douglass M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

10

Apoptosis and muscle fibre loss in neuromuscular disorders

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 135 KB

english, 2002

11

Cognitive function in children with spinal muscular atrophy

Jechil S Sieratzki, Bencie Woll

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

12

Response to comments by J.S. Sieratzki and B. Woll: Cognitive function in children with spinal muscular atrophy

A von Gontard, S Rudnik-Schoeneborn, K Zerres

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

13

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Carina Wallgren-Pettersson, Kati Donner, Caroline Sewry, Emilia Bijlsma, Martin Lammens, Kate Bushby, Maria Luisa Giovannucci Uzielli, Elisabetta Lapi, Sylvie Odent, Zuhal Akcoren, Haluk Topaloğlu, Ka

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

14

Nebulin mutations in autosomal recessive nemaline myopathy: an update

Katarina Pelin, Kati Donner, Maria Holmberg, Heinz Jungbluth, Francesco Muntoni, Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 344 KB

english, 2002

15

Response to comments by J. Finsterer: Amyotrophic lateral sclerosis with very slow progression

G.D Borasio, K Grohme, M.v Maravic

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 37 KB

english, 2002

16

Abstracts

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 783 KB

english, 2002

17

Program of the 7th WMS Congress

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 111 KB

english, 2002

18

Neuromuscular Disorders

Journal:

Neuromuscular Disorders

Year:

2002

File:

PDF, 91 KB

2002

19

WELCOME TO THE NETHERLANDS

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 35 KB

english, 2002

20

MESSAGE FROM THE PRESIDENT OF WMS

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 22 KB

english, 2002

21

Programme (Summary)

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 25 KB

english, 2002

22

Table of location of abstract topics

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 14 KB

english, 2002

23

Author index

Journal:

Neuromuscular Disorders

Year:

2002

File:

PDF, 47 KB

2002

24

Neuromuscular disorders: gene location

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 86 KB

english, 2002

25

Mitochondrial encephalomyopathies: gene mutation

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

26

Congenital myasthenic syndromes: gene mutations

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

27

Instructions to authors

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

28

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 46 KB

english, 2002

29

Amyotrophic lateral sclerosis with very slow progression

Josef Finsterer

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002