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Neuromuscular Disorders : NMD|February 24, 2005
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalismTzung-Chang Tsai, Hideo Horinouchi, Satoru Noguchi, et al.
Neuromuscular Disorders : NMD|February 24, 2005
Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cordCarolina Soler-Botija, Ivón Cuscó, Eva López, et al.
Neuromuscular Disorders : NMD|February 24, 2005
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian womanKhean Jin Goh, Kum Thong Wong, Ichizo Nishino, et al.
Neuromuscular Disorders : NMD|March 17, 2004
The diagnosis of mitochondrial muscle diseaseRobert W Taylor, Andrew M Schaefer, Martin J Barron, et al.
Neuromuscular Disorders : NMD|March 17, 2004
Fatal infantile neuromuscular presentation of glycogen storage disease type IVStacey K H Tay, Hasan O Akman, Wendy K Chung, et al.
Neuromuscular Disorders : NMD|March 17, 2004
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 geneTanya Stojkovic, Philippe Latour, Ghislaine Viet, et al.
Neuromuscular Disorders : NMD|March 17, 2004
Localization of the alpha-chemokine SDF-1 and its receptor CXCR4 in idiopathic inflammatory myopathiesBoel De Paepe, J Michael Schröder, Jean-Jacques Martin, et al.
Neuromuscular Disorders : NMD|March 24, 2004
Molecular phenotyping of the mouse ky mutant reveals UCP1 upregulation at the neuromuscular junctions of dystrophic soleus muscleG Blanco, C Pritchard, P Underhill, et al.
Neuromuscular Disorders : NMD|March 24, 2004
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelinA Kochanski, H Drac, D Kabzińska, et al.
Neuromuscular Disorders : NMD|May 18, 2004
Prednisone reduces muscle degeneration in dystrophin-deficient Caenorhabditis elegansAurélie Gaud, Jean-Marc Simon, Thomas Witzel, et al.
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