Neuromuscular Disorders - Current Issue

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Neuromuscular Disorders

Volume 20, Issue 3, Pages 155-222 (March 2010)

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Editorial Board
page IFC
Full-Text PDF (48 KB)

Research papers

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
A.M. Glanzman, E. Mazzone, M. Main, M. Pelliccioni, J. Wood, K.J. Swoboda, C. Scott, M. Pane, S. Messina, E. Bertini, E. Mercuri, R.S. Finkel
pages 155-161
Abstract | Full Text | Full-Text PDF (1517 KB)

Reliability of telephone administration of the PedsQL™ Generic Quality of Life Inventory™ and Neuromuscular Module™ in spinal muscular atrophy (SMA)
Sally Dunaway, Jacqueline Montes, Megan Montgomery, Vanessa Battista, Benjamin Koo, Jonathan Marra, Darryl C. De Vivo, Linda S. Hynan, Susan T. Iannaccone, Petra Kaufmann
pages 162-165
Abstract | Full Text | Full-Text PDF (177 KB)

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Haiyan Zhou, Suzanne Lillis, Ryan E. Loy, Farshid Ghassemi, Michael R. Rose, Fiona Norwood, Kerry Mills, Safa Al-Sarraj, Russell J.M. Lane, Lucy Feng, Emma Matthews, Caroline A. Sewry, Stephen Abbs, Stefan Buk, Michael Hanna, Susan Treves, Robert T. Dirksen, Gerhard Meissner, Francesco Muntoni, Heinz Jungbluth
pages 166-173
Abstract | Full Text | Full-Text PDF (924 KB) | Add-Ons

Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy
Gerardo Nigro, Vincenzo Russo, Vega Maria Ventriglia, Nadia Della Cioppa, Alberto Palladino, Vincenzo Nigro, Raffaele Calabrò, Giovanni Nigro, Luisa Politano
pages 174-177
Abstract | Full Text | Full-Text PDF (1851 KB)

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain
Luis Vernengo, Oussama Chourbagi, Ana Panuncio, Alain Lilienbaum, Sabrina Batonnet-Pichon, Francine Bruston, Fernando Rodrigues-Lima, Rosario Mesa, Carlos Pizzarossa, Laurence Demay, Pascale Richard, Patrick Vicart, Maria-Mirta Rodriguez
pages 178-187
Abstract | Full Text | Full-Text PDF (2522 KB)

Autoantibody profiles in two patients with non-autoimmune muscle disease implicate a role for gliadin autoreactivity
Nancy J. Olsen, Heidi Prather, Quan-Zhen Li, Dennis K. Burns
pages 188-191
Abstract | Full Text | Full-Text PDF (453 KB)

Microvasculopathic neuromuscular diseases: Lessons from hypoxia-inducible factors
Stefan Probst-Cousin, Bernhard Neundörfer, Dieter Heuss
pages 192-197
Abstract | Full Text | Full-Text PDF (722 KB)

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion
Nicole Lesko, Karin Naess, Rolf Wibom, Nicola Solaroli, Inger Nennesmo, Ulrika von Döbeln, Anna Karlsson, Nils-Göran Larsson
pages 198-203
Abstract | Full Text | Full-Text PDF (1072 KB)

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)
Andres Berardo, Jorida Çoku, Bulent Kurt, Salvatore DiMauro, Michio Hirano
pages 204-206
Abstract | Full Text | Full-Text PDF (774 KB)

Historical paper

A pioneer in neuropathology: Alix Joffroy (1844–1908), J.-M Charcot’s pupil
D. Tiberghien
pages 207-213
Full Text | Full-Text PDF (236 KB)

What the journals say

Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neuroscience 2009; 29: 11761–11771
page 214
Full-Text PDF (107 KB)

Commentary 2 on “Motoneuron transplantation rescues the phenotype of SMARD1
pages 214-215
Full-Text PDF (119 KB)

Letters to the Editor

Letter 1
Michael W. Munn
page 216
Full Text | Full-Text PDF (107 KB)