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Neuromuscular Disorders
Volume 18, Issue 1, Pages 1-130 (January 2008)

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Editorial Board
page IFC
Full-Text PDF (64 KB)

Editorial


Commentary from the Editor
Victor Dubowitz
pages 1-5
Full Text | Full-Text PDF (76 KB)

Review


Sporadic inclusion body myositis: a continuing puzzle
M. Needham, F.L. Mastaglia
pages 6-16
Abstract | Full Text | Full-Text PDF (314 KB)

Annotation


Mesenchymal stem cells from umbilical cord: Do not discard the cord!
Mariane Secco, Eder Zucconi, Natassia M. Vieira, Luciana L.Q. Fogaça, Antonia Cerqueira, Maria Denise F. Carvalho, Tatiana Jazedje, Oswaldo K. Okamoto, Alysson R. Muotri, Mayana Zatz
pages 17-18
Full Text | Full-Text PDF (67 KB)

Research papers


Reliability of clinical outcome measures in Charcot-Marie-Tooth disease
A. Solari, M. Laurà, E. Salsano, D. Radice, D. Pareyson, On behalf of the CMT-TRIAAL Study Group
pages 19-26
Abstract | Full Text | Full-Text PDF (598 KB)


Histone H1 is released from myonuclei and present in rimmed vacuoles with DNA in inclusion body myositis
Satoshi Nakano, Akiyo Shinde, Kengo Fujita, Hidefumi Ito, Hirofumi Kusaka
pages 27-33
Abstract | Full Text | Full-Text PDF (825 KB)


Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis
Harriet P. Lo, Sandra T. Cooper, Frances J. Evesson, Jane T. Seto, Maria Chiotis, Valerie Tay, Alison G. Compton, Anita G. Cairns, Alistair Corbett, Daniel G. MacArthur, Nan Yang, Katrina Reardon, Kathryn N. North
pages 34-44
Abstract | Full Text | Full-Text PDF (2443 KB)


Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
Hiroshi Manya, Céline Bouchet, Akiko Yanagisawa, Sandrine Vuillaumier-Barrot, Susana Quijano-Roy, Yasushi Suzuki, Svetlana Maugenre, Pascale Richard, Toshiyuki Inazu, Luciano Merlini, Norma B. Romero, France Leturcq, Isabelle Bezier, Haluk Topaloglu, Brigitte Estournet, Nathalie Seta, Tamao Endo, Pascale Guicheney
pages 45-51
Abstract | Full Text | Full-Text PDF (161 KB)


Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)
Peter G. Barth, Monique M. Ryan, Richard I. Webster, Eleonora Aronica, Alex Kan, Marja Ramkema, Philip Jardine, Bwee Tien Poll-The
pages 52-58
Abstract | Full Text | Full-Text PDF (1556 KB)


Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
Liesbeth S. Smit, Daniella Roofthooft, Fred van Ruissen, Frank Baas, Pieter A. van Doorn
pages 59-62
Abstract | Full Text | Full-Text PDF (343 KB)


The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
Robert McFarland, Helen Swalwell, Emma L. Blakely, Langping He, Emma J. Groen, Douglass M. Turnbull, Kate M. Bushby, Robert W. Taylor
pages 63-67
Abstract | Full Text | Full-Text PDF (470 KB)


A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
F.L. Conforti, T. Sprovieri, R. Mazzei, C. Ungaro, V. La Bella, A. Tessitore, A. Patitucci, A. Magariello, A.L. Gabriele, G. Tedeschi, I.L. Simone, G. Majorana, P. Valentino, F. Condino, F. Bono, M.R. Monsurrò, M. Muglia, A. Quattrone
pages 68-70
Abstract | Full Text | Full-Text PDF (282 KB)


Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy
P. Garrood, M. Eagle, P.E. Jardine, K. Bushby, V. Straub
pages 71-73
Abstract | Full Text | Full-Text PDF (75 KB)


Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+-depleted rats
Domenico Tricarico, Antonietta Mele, Birgit Liss, Frances M. Ashcroft, Andrew L. Lundquist, Reshma R. Desai, Alfred L. George, Diana Conte Camerino
pages 74-80
Abstract | Full Text | Full-Text PDF (326 KB)

What the journals say


Spinal muscular atrophy: Motoneurone or muscle disease?
pages 81-82
Full-Text PDF (72 KB)


Other forms of survival motor neuron protein and spinal muscular atrophy: An opinion
pages 82-83
Full-Text PDF (54 KB)


Substantial immune suppression required in gene therapy for muscular dystrophy?
pages 83-84
Full-Text PDF (51 KB)

Workshop reports


151st ENMC International Workshop: Inflammatory Neuropathy Consortium 13th–15th April 2007, Schiphol, The Netherlands
M.P. Lunn, J.M. Léger, I.S. Merkies, P. Van den Bergh, I.N. van Schaik, on behalf of the Inflammatory Neuropathy Consortium
pages 85-89
Full Text | Full-Text PDF (92 KB)


147th ENMC International Workshop: Guideline on processing and evaluation of sural nerve biopsies, 15–17 December 2006, Naarden, The Netherlands
C. Sommer, S. Brandner, P.J. Dyck, L. Magy, S.I. Mellgren, M. Morbin, A. Schenone, E. Tan, J. Weis
pages 90-96
Full Text | Full-Text PDF (117 KB)

Letter to the Editor


Myopathy associated with statin therapy
David Hilton-Jones
pages 97-98
Full Text | Full-Text PDF (58 KB)


Foreword to Gene Table
pages 99-100
Full-Text PDF (62 KB)


Gene table of monogenic neuromuscular disorder (nuclear genome only)
pages 101-129
Full-Text PDF (213 KB)


WMS12 Sicily: Scientific and Social Invasion
pages I-V
Full Text | Full-Text PDF (1614 KB)


WMS online application
page IX
Full-Text PDF (54 KB)


WMS - 13th International Congress
page X
Full-Text PDF (514 KB)


Forthcoming meetings
page XI
Full-Text PDF (42 KB)

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