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Volume 12; Issue 2
Main
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2002
16
The Cerebral Palsies, G. Miller &, G. Clark, 1998, 400 pp. £60. ISBN 0 7506 9964 7
W. Squier
Journal:
Neuromuscular Disorders
Year:
2002
Language:
english
File:
PDF, 36 KB
Your tags:
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
Caroline Sewry
Journal:
Neuromuscular Disorders
Year:
2002
Language:
english
File:
PDF, 28 KB
Your tags:
english, 2002
18
Neuromuscular disorders: gene location
Journal:
Neuromuscular Disorders
Year:
2002
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2002
19
Mitochondrial encephalomyopathies: gene mutation
Journal:
Neuromuscular Disorders
Year:
2002
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2002
20
Instructions to authors
Journal:
Neuromuscular Disorders
Year:
2002
Language:
english
File:
PDF, 39 KB
Your tags:
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
Your tags:
english, 2002
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