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Volume 22; Issue 5
Main
Neuromuscular Disorders
Volume 22; Issue 5
Neuromuscular Disorders
Volume 22; Issue 5
1
Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands
Richard J.L.F. Lemmers
,
Suzanne O’Shea
,
George W. Padberg
,
Peter W. Lunt
,
Silvère M. van der Maarel
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2012
2
185th ENMC International Workshop: Stem/precursor cells as a therapeutic strategy for muscular dystrophies 3–5 June 2011, Naarden, The Netherlands
Ketan Patel
,
Jennifer Morgan
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2012
3
Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains
Maaike van Putten
,
Darshan Kumar
,
Margriet Hulsker
,
Willem M.H. Hoogaars
,
Jaap J. Plomp
,
Annemarieke van Opstal
,
Maarten van Iterson
,
Peter Admiraal
,
Gert-Jan B. van Ommen
,
Peter A.C. ‘t Hoen
,
Annemie
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 2012
4
5th Annual Dysferlin Conference 11–14 July 2011, Chicago, Illinois, USA
Douglas E. Albrecht
,
Laura E. Rufibach
,
Bradley A. Williams
,
Nilah Monnier
,
Esther Hwang
,
Plavi Mittal
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2012
5
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations
P. McKelvie
,
R. Marotta
,
D.R. Thorburn
,
J. Chin
,
S. Punchihewa
,
S. Collins
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 1.09 MB
Your tags:
english, 2012
6
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy
E. Somers
,
Z. Stencel
,
T.M. Wishart
,
T.H. Gillingwater
,
S.H. Parson
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 932 KB
Your tags:
english, 2012
7
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging
Ingrid E.C. Verhaart
,
Rianne J.M. van Duijn
,
Brigit den Adel
,
Arno A.W. Roest
,
Jan J.G.M. Verschuuren
,
Annemieke Aartsma-Rus
,
Louise van der Weerd
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 530 KB
Your tags:
english, 2012
8
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
Rie S. Tsuburaya
,
Kazunari Monma
,
Yasushi Oya
,
Takahiro Nakayama
,
Tokiko Fukuda
,
Hideo Sugie
,
Yukiko K. Hayashi
,
Ikuya Nonaka
,
Ichizo Nishino
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 890 KB
Your tags:
english, 2012
9
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
N. Trump
,
T. Cullup
,
J.B.G.M. Verheij
,
A. Manzur
,
F. Muntoni
,
S. Abbs
,
H. Jungbluth
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 268 KB
Your tags:
english, 2012
10
Cortical heterotopia in LGMD2I
Dimitri Renard
,
Carla Fernandez
,
Celine Bouchet-Seraphin
,
Pierre Labauge
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 287 KB
Your tags:
english, 2012
11
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy
Young-Min Lim
,
InSong Koh
,
Young-Mi Park
,
Jae-Jung Kim
,
Dae-Seong Kim
,
Hyo-Jin Kim
,
Kyu-Heum Baik
,
Hye-Yeon Choi
,
Gap-Seok Yang
,
Eva Also-Rallo
,
Eduardo F. Tizzano
,
Josep Gamez
,
Kiejung Park
,
Han-Wook
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2012
12
N-Acetylcysteine treatment of dystrophic mdx mice results in protein thiol modifications and inhibition of exercise induced myofibre necrosis
Jessica R. Terrill
,
Hannah G. Radley-Crabb
,
Miranda D. Grounds
,
Peter G. Arthur
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 418 KB
Your tags:
english, 2012
13
Can old observations explain the pathogenesis of SMA?
G. Vrbová
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2012
14
182nd ENMC International Workshop: RYR1-related myopathies, 15–17th April 2011, Naarden, The Netherlands
Heinz Jungbluth
,
James J. Dowling
,
Ana Ferreiro
,
Francesco Muntoni
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2012
15
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction
R. Witoonpanich
,
T. Pulkes
,
C. Dejthevaporn
,
P. Witoonpanich
,
P. Yodnopklao
,
S. Wetchaphanphesat
,
J. Brengman
,
A.G. Engel
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2012
16
Transition to adulthood for young men with Duchenne muscular dystrophy: Research from the UK
David Abbott
,
John Carpenter
,
Kate Bushby
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 119 KB
Your tags:
english, 2012
17
Editorial Board
Journal:
Neuromuscular Disorders
Year:
2012
Language:
english
File:
PDF, 55 KB
Your tags:
english, 2012
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