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Volume 20; Issue 5
Main
Neuromuscular Disorders
Volume 20; Issue 5
Neuromuscular Disorders
Volume 20; Issue 5
1
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy
Claudia Di Blasi
,
Flavia Blasevich
,
Emanuela Bellafiore
,
Elisa Mottarelli
,
Sara Gibertini
,
Simona Zanotti
,
Simona Saredi
,
Renato Mantegazza
,
Lucia Morandi
,
Marina Mora
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 598 KB
Your tags:
english, 2010
2
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands
Valérie Allamand
,
Luciano Merlini
,
Kate Bushby
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2010
3
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family
Andrea Stober
,
Angelo Aleo
,
Valerio Kuhl
,
Antje Bornemann
,
Maggie C. Walter
,
Hanns Lochmüller
,
Alfred Lindner
,
Sabine Krause
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2010
4
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy
Loren Pena
,
Katherine Kim
,
Joel Charrow
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 418 KB
Your tags:
english, 2010
5
Reverse protein arrays as novel approach for protein quantification in muscular dystrophies
Claudia Escher
,
Hanns Lochmüller
,
Dirk Fischer
,
Stephan Frank
,
Jens Reimann
,
Maggie C. Walter
,
Markus Ehrat
,
Markus A. Ruegg
,
Daniel Gygax
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 635 KB
Your tags:
english, 2010
6
Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Nada Quercia
,
Gino R. Somers
,
William Halliday
,
Paul F. Kantor
,
Brenda Banwell
,
Grace Yoon
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 324 KB
Your tags:
english, 2010
7
Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings
Kishore R. Kumar
,
Merrilee Needham
,
Kym Mina
,
Mark Davis
,
Janice Brewer
,
Christopher Staples
,
Karl Ng
,
Carolyn M. Sue
,
Frank L. Mastaglia
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 352 KB
Your tags:
english, 2010
8
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN)
D.M. Cordelli
,
C. Garone
,
V. Marchiani
,
R. Lodi
,
C. Tonon
,
S. Ferrari
,
M. Seri
,
E. Franzoni
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 593 KB
Your tags:
english, 2010
9
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009
F. Muntoni
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2010
10
Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway
Alban Vignaud
,
Arnaud Ferry
,
Aline Huguet
,
Martin Baraibar
,
Capucine Trollet
,
Janek Hyzewicz
,
Gillian Butler-Browne
,
Jack Puymirat
,
Genevieve Gourdon
,
Denis Furling
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 707 KB
Your tags:
english, 2010
11
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials
Virginia Arechavala-Gomeza
,
Maria Kinali
,
Lucy Feng
,
Michela Guglieri
,
Geraldine Edge
,
Marion Main
,
David Hunt
,
Jan Lehovsky
,
Volker Straub
,
Kate Bushby
,
Caroline A. Sewry
,
Jennifer E. Morgan
,
Frances
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 742 KB
Your tags:
english, 2010
12
Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ)
Mieke C.E. Hermans
,
Catharina G. Faber
,
Marc H. De Baets
,
Christine E.M. de Die-Smulders
,
Ingemar S.J. Merkies
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 731 KB
Your tags:
english, 2010
13
Editorial Board
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 47 KB
Your tags:
english, 2010
14
WMS 2010
Journal:
Neuromuscular Disorders
Year:
2010
File:
PDF, 305 KB
Your tags:
2010
15
WMS online application form
Journal:
Neuromuscular Disorders
Year:
2010
Language:
english
File:
PDF, 85 KB
Your tags:
english, 2010
16
WMS News
Journal:
Neuromuscular Disorders
Year:
2010
File:
PDF, 496 KB
Your tags:
2010
1
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