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Neuromuscular Disorders : NMD|November 8, 2008
Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex catsPaul T Martin, G Diane Shelton, Peter J Dickinson, et al.
Neuromuscular Disorders : NMD|November 8, 2008
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expressionClaudia Di Blasi, Laura Jarre, Flavia Blasevich, et al.
Neuromuscular Disorders : NMD|November 11, 2008
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findingsI Banchs, C Casasnovas, J Montero, et al.
Neuromuscular Disorders : NMD|July 6, 2007
POEMS syndrome: relapse after successful autologous peripheral blood stem cell transplantationF Giglia, L Chiapparini, L Fariselli, et al.
Neuromuscular Disorders : NMD|July 7, 2007
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing lossElena Cardaioli, Paola Da Pozzo, Gian Nicola Gallus, et al.
Neuromuscular Disorders : NMD|July 7, 2007
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicaseHenry Rivera, Alberto Blázquez, Julián Carretero, et al.
Neuromuscular Disorders : NMD|July 14, 2007
The molecular basis of spinal muscular atrophy (SMA) in South African black patientsR Labrum, J Rodda, A Krause
Neuromuscular Disorders : NMD|July 17, 2007
Intermediate filament-like protein syncoilin in normal and myopathic striated muscleKarl J A McCullagh, Ben Edwards, Ellen Poon, et al.
Neuromuscular Disorders : NMD|January 31, 2009
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotypeS Vuillaumier-Barrot, S Quijano-Roy, C Bouchet-Seraphin, et al.
Neuromuscular Disorders : NMD|February 12, 2009
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in twoBenedikt Schoser, Saiju Jacob, David Hilton-Jones, et al.
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