Volume 18; Issue 12

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Neuromuscular Disorders
Volume 18; Issue 12

Neuromuscular Disorders

Volume 18; Issue 12

1

157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands

Anna Sárközy, Kate Bushby, Christophe Béroud, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 214 KB

english, 2008

2

TPM2 mutation

Almuth Brandis, Eleonora Aronica, Hans H. Goebel

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

3

HLA-DRB1 polymorphisms distribution in chronic dysimmune polyneuropathy

M. Gironi, F.R. Guerini, E. Beghi, G. Antonini, F. Martinelli-Boneschi, L. Ceresa, S. Morino, C. Agliardi, P. Ferrante, R. Nemni

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

4

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Montse Olivé, Alexey Shatunov, Laura Gonzalez, Olga Carmona, Dolores Moreno, Lidia Gonzalez Quereda, J.A. Martinez-Matos, Lev G. Goldfarb, Isidro Ferrer

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

5

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, Anna Vihola, Isabelle Pénisson-Besnier, Bruno Eymard, Jose Manuel Pardal-Fernández, El-Hadi Hammouda, Isabelle Richard, Isabel Illa, Bjarne Udd

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008

6

Skin changes in Ullrich congenital muscular dystrophy

Amelie Nadeau, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 151 KB

english, 2008

7

150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands

Heinz Jungbluth, Francesco Muntoni, Ana Ferreiro

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 185 KB

english, 2008

8

Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats

Paul T. Martin, G. Diane Shelton, Peter J. Dickinson, Beverly K. Sturges, Rui Xu, Richard A. LeCouteur, Ling T. Guo, Robert A. Grahn, Harriet P. Lo, Kathryn N. North, Richard Malik, Eva Engvall, Lesli

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 1.75 MB

english, 2008

9

Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?

Lars Klinge, Gabriele Dekomien, Ahmed Aboumousa, Richard Charlton, Jörg T. Epplen, Rita Barresi, Kate Bushby, Volker Straub

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

10

Hand involvement in children with Charcot–Marie-Tooth disease type 1A

Joshua Burns, Paula Bray, Lauren A. Cross, Kathryn N. North, Monique M. Ryan, Robert A. Ouvrier

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 212 KB

english, 2008

11

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

Jacques S. Beckmann, Melissa Spencer

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 411 KB

english, 2008

12

Being the lifeline: The parent experience of caring for a child with neuromuscular disease on home mechanical ventilation

Jean K. Mah, Jennifer E. Thannhauser, Deborah A. McNeil, Deborah Dewey

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 211 KB

english, 2008

13

Intermittent inotrope infusion for end stage heart failure in Duchenne muscular dystrophy

Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Gunther Fischer

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 198 KB

english, 2008

14

Response to letter

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

15

Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings

I. Banchs, C. Casasnovas, J. Montero, J.A. Martínez-Matos, V. Volpini

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 632 KB

english, 2008

16

International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA

Yiumo Michael Chan, Susan Brown, Qi Lu

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

17

Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression

Claudia Di Blasi, Laura Jarre, Flavia Blasevich, Patrizia Dassi, Marina Mora

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 510 KB

english, 2008

18

A Spanish sporadic case of deafness–dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes

Luis A. Aguirre, Manuel Pérez-Bas, Manuela Villamar, M. Asunción López-Ariztegui, Miguel A. Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 223 KB

english, 2008

19

Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry

Gianina Ravenscroft, Stephen M.J. Colley, Kendall R. Walker, Sophie Clement, Scott Bringans, Richard Lipscombe, Victoria A. Fabian, Nigel G. Laing, Kristen J. Nowak

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 353 KB

english, 2008

20

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

Sherine Shalaby, Yukiko K. Hayashi, Kanako Goto, Megumu Ogawa, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 239 KB

english, 2008

21

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

22

WMS online application form

Journal:

Neuromuscular Disorders

Year:

2008

File:

PDF, 38 KB

2008

23

WMS News

Journal:

Neuromuscular Disorders

Year:

2008

File:

PDF, 567 KB

2008

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