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Volume 22; Issue 4
Main
Neuromuscular Disorders
Volume 22; Issue 4
Neuromuscular Disorders
Volume 22; Issue 4
1
Cardiac dysfunction and pathology in the dystrophin and utrophin-deficient mouse during development of dilated cardiomyopathy
Ju Lan Chun
,
Robert O’Brien
,
Suzanne E. Berry
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 1.83 MB
Your tags:
english, 2012
2
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
I. Wargon
,
P. Richard
,
T. Kuntzer
,
D. Sternberg
,
S. Nafissi
,
K. Gaudon
,
A. Lebail
,
S. Bauche
,
D. Hantaï
,
E. Fournier
,
B. Eymard
,
T. Stojkovic
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 481 KB
Your tags:
english, 2012
3
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony
Inge D. Wijnberg
,
Marta Owczarek-Lipska
,
Roberta Sacchetto
,
Francesco Mascarello
,
Francesco Pascoli
,
Walter Grünberg
,
Johannes H. van der Kolk
,
Cord Drögemüller
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2012
4
Multiple exon skipping strategies to by-pass dystrophin mutations
Carl F. Adkin
,
Penelope L. Meloni
,
Susan Fletcher
,
Abbie M. Adams
,
Francesco Muntoni
,
Brenda Wong
,
Steve D. Wilton
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 776 KB
Your tags:
english, 2012
5
Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy
Chien-Hua Wang
,
Mana Leung
,
Wen-Chen Liang
,
Tysh-Jyi Hsieh
,
Tai-Heng Chen
,
Yuh-Jyh Jong
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 540 KB
Your tags:
english, 2012
6
Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy
Merel Jansen
,
Nens van Alfen
,
Maria W.G. Nijhuis van der Sanden
,
Johannes P. van Dijk
,
Sigrid Pillen
,
Imelda J.M. de Groot
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 663 KB
Your tags:
english, 2012
7
Focal myositis – A neurogenic phenomenon?
Hanne Marie Bøe Lunde
,
Geir Olve Skeie
,
Anne K. Bertelsen
,
Bjørn Karlsen
,
Hrvoje Miletic
,
Sigurd Lindal
,
Nils J. Brautaset
,
Laurence A. Bindoff
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2012
8
A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris
Daniel Zielonka
,
Karin Jurkat-Rott
,
Paweł Stachowiak
,
Anna Bryl
,
Jerzy T. Marcinkowski
,
Frank Lehmann-Horn
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2012
9
Mutation spectrum and phenotypic manifestation in FSHD Greek patients
P. Sakellariou
,
K. Kekou
,
H. Fryssira
,
C. Sofocleous
,
P. Manta
,
A. Panousopoulou
,
K. Gounaris
,
E. Kanavakis
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 691 KB
Your tags:
english, 2012
10
Editorial Board
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2012
11
WMS 2012
Journal:
Neuromuscular Disorders
Year:
2012
File:
PDF, 487 KB
Your tags:
2012
12
Course: Update in Neuromuscular Disorders
Journal:
Neuromuscular Disorders
Year:
2012
File:
PDF, 451 KB
Your tags:
2012
13
Announcement
Journal:
Neuromuscular Disorders
Year:
2012
File:
PDF, 1.01 MB
Your tags:
2012
14
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)
Olimpia Musumeci
,
Claudio Bruno
,
Tiziana Mongini
,
Carmelo Rodolico
,
M’hammed Aguennouz
,
Emanuele Barca
,
Angela Amati
,
Denise Cassandrini
,
Luigi Serlenga
,
Giuseppe Vita
,
Antonio Toscano
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 414 KB
Your tags:
english, 2012
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