Volume 12; Issue 2

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Neuromuscular Disorders
Volume 12; Issue 2

Neuromuscular Disorders

Volume 12; Issue 2

1

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

Gisèle Bonne, Jaqueline Capeau, Marianne De Visser, Denis Duboc, Luciano Merlini, Glenn E. Morris, Francesco Muntoni, Dominique Recan, Caroline Sewry, Stefano Squarzoni, Colin Stewart, Beril Talim, An

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

2

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Roberto Fernandez-Hojas, Maryann L. Huie, Carmen Navarro, Carmen Dominguez, Manuel Roig, Diana Lopez-Coronas, Susana Teijeira, Kwame Anyane-Yeboa, Rochelle Hirschhorn

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 287 KB

english, 2002

3

Expression of IL-17B in neurons and evaluation of its possible role in the chromosome 5q-linked form of Charcot–Marie–Tooth disease

Emma E. Moore, Scott Presnell, Ursula Garrigues, Angele Guilbot, Eric LeGuern, Deborah Smith, Lena Yao, Theodore E. Whitmore, Teresa Gilbert, Theo D. Palmer, Philip J. Horner, Rolf E. Kuestner

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 737 KB

english, 2002

4

Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle

Yoshihide Sunada, Fumiaki Saito, Itsuro Higuchi, Kiichiro Matsumura, Teruo Shimizu

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 178 KB

english, 2002

5

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

Kati Donner, Miina Ollikainen, Maaret Ridanpää, Hans-Jürgen Christen, Hans H Goebel, Marianne de Visser, Katarina Pelin, Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 411 KB

english, 2002

6

Abnormalities in brain biochemistry associated with lack of dystrophin: studies of the mdx mouse

Caroline Rae, Julian L Griffin, Duncan H Blair, John H Bothwell, William A Bubb, Annie Maitland, Stewart Head

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 199 KB

english, 2002

7

Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice

K Leriche-Guérin, L.V.B Anderson, K Wrogemann, B Roy, M Goulet, J.P Tremblay

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 483 KB

english, 2002

8

Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II

Sabine Rudnik-Schöneborn, Christian Breuer, Klaus Zerres

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

9

90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands

Luciano Merlini, Brigitte Estournet-Mathiaud, Susan Iannaccone, Judith Melki, Francesco Muntoni, Sabine Rudnik-Schöneborn, Haluk Topaloǧlu, Giuseppe Vita, Thomas Voit

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 115 KB

english, 2002

10

Creatine supplementation reduces skeletal muscle degeneration and enhances mitochondrial function in mdx mice

Anne-Catherine Passaquin, Mathilde Renard, Laurence Kay, Corinne Challet, Armand Mokhtarian, Theo Wallimann, Urs T. Ruegg

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 708 KB

english, 2002

11

Intelligence and cognitive function in children and adolescents with spinal muscular atrophy

A. von Gontard, K. Zerres, M. Backes, C. Laufersweiler-Plass, C. Wendland, P. Melchers, G. Lehmkuhl, S. Rudnik-Schöneborn

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 80 KB

english, 2002

12

The muscle-specific marker desmin is expressed in a proportion of human dermal fibroblasts after their exposure to galectin-1

K Goldring, G.E Jones, C.A Sewry, D.J Watt

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 185 KB

english, 2002

13

88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000

Yoram Nevo, Haluk Topaloǧlu

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

14

Disorders of Voluntary Muscle 7th edition, Karpati G, Hilton-Jones D, Griggs R, Cambridge University Press, June 2001, 200 Half-tones, 105 line drawings, 96 tables, 7 colour illustrations, 754 pages, ISBN: Hardback 0-521-65062-3, £160.00.

Marianne de Visser

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 40 KB

english, 2002

15

Bodies Politic: Disease, Death and Doctors in Britain, 1650–1900 Roy Porter, Reaktion Books Ltd., London, 2001, 328 pages, ISBN 1 86189 094 X (Hardback), £25

Alan E.H. Emery

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 28 KB

english, 2002

16

The Cerebral Palsies, G. Miller &, G. Clark, 1998, 400 pp. £60. ISBN 0 7506 9964 7

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 36 KB

english, 2002

17

Pathology of Skeletal Muscle, 2nd edition, S. Carpenter and G. Karpati, Oxford University Press Oxford 2001. IBSN 0-19-506364-3 £140.00

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 28 KB

english, 2002

18

Neuromuscular disorders: gene location

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002

19

Mitochondrial encephalomyopathies: gene mutation

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

20

Instructions to authors

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

21

Therapeutic possibilities in muscular dystrophy: the hope versus the hype

Victor Dubowitz

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002