Volume 20; Issue 2

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Neuromuscular Disorders
Volume 20; Issue 2

Neuromuscular Disorders

Volume 20; Issue 2

1

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Charlotte L. Alston, Monika Morak, Christopher Reid, Iain P. Hargreaves, Simon A.S. Pope, John M. Land, Simon J. Heales, Rita Horvath, Helen Mundy, Robert W. Taylor

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

2

The role of patient advocacy organisations in neuromuscular disease R&D – The case of the Dutch neuromuscular disease association VSN

Wouter Boon, Ria Broekgaarden

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 400 KB

english, 2010

3

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

Linda J. Popplewell, Carl Adkin, Virginia Arechavala-Gomeza, Annemieke Aartsma-Rus, Christa L. de Winter, Steve D. Wilton, Jennifer E. Morgan, Francesco Muntoni, Ian R. Graham, George Dickson

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 655 KB

english, 2010

4

Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008

D. Hilton-Jones, A. Miller, M. Parton, J. Holton, C. Sewry, M.G. Hanna

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 170 KB

english, 2010

5

Muscle phosphorylase b kinase deficiency revisited

Andoni Echaniz-Laguna, Hasan O. Akman, Michel Mohr, Christine Tranchant, Violaine Talmant-Verbist, Marie-Odile Rolland, Salvatore Dimauro

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

6

Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort

Lily C. Wong-Kisiel, Nancy L. Kuntz

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

7

Rigid spine syndrome revealing late-onset Pompe disease

Pascal Laforêt, Valérie Doppler, Catherine Caillaud, Kenza Laloui, Kristl G. Claeys, Pascale Richard, Ana Ferreiro, Bruno Eymard

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

8

Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

Alfred Peter Born, Klaus Müller, Hanne Vibeke Marquart, Carsten Heilmann, Lone Schejbel, John Vissing

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 275 KB

english, 2010

9

Ca2+ sensitizers: An emerging class of agents for counterbalancing weakness in skeletal muscle diseases?

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

10

Living with muscular dystrophy: Personal reflections

Michael W. Munn

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

11

Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation

Joseph J. Belanto, Silvia V. Diaz-Perez, Clara E. Magyar, Michele M. Maxwell, Yasemin Yilmaz, Kasey Topp, Guney Boso, Catriona H. Jamieson, Nicholas A. Cacalano, Christina A.M. Jamieson

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

12

Incontinetia pigmenti-related myopathy or unsolved “double trouble”?

H.B. Huttner, G. Richter, A. Jünemann, W. Kress, J. Weis, J.M. Schröder, A. Gal, A. Doerfler, B. Udd, R. Schröder

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 289 KB

english, 2010

13

Clinical myology at the crossroads; the gospel truth

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

14

A new section for Neuromuscular Disorders: Patients’ Forum

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

15

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

16

WMS 2010

Journal:

Neuromuscular Disorders

Year:

2010

File:

PDF, 284 KB

2010

17

WMS online application form

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

18

WMS News

Journal:

Neuromuscular Disorders

Year:

2010

File:

PDF, 496 KB

2010

19

ENMC Assessment

Journal:

Neuromuscular Disorders

Year:

2010

File:

PDF, 111 KB

2010

20

Parent project

Journal:

Neuromuscular Disorders

Year:

2010

File:

PDF, 280 KB

2010