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Neuromuscular Disorders : NMD|November 4, 2008
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathiesJuan-Juan Feng, Steven Marston
Neuromuscular Disorders : NMD|June 27, 2009
Rhabdomyolysis caused by tocolytic therapy with ritodrine hydrochlorideL Verriello, D D'Amico, G Pauletto, et al.
Neuromuscular Disorders : NMD|April 7, 2009
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2Rosanna Cardani, Simona Baldassa, Annalisa Botta, et al.
Neuromuscular Disorders : NMD|February 24, 2009
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?Marta González-Freire, Catalina Santiago, Félix Gómez-Gallego, et al.
Neuromuscular Disorders : NMD|February 4, 2009
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1Roberta Biancheri, Marianna Ciccolella, Andrea Rossi, et al.
Neuromuscular Disorders : NMD|October 28, 2008
Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometryGianina Ravenscroft, Stephen M J Colley, Kendall R Walker, et al.
Neuromuscular Disorders : NMD|October 28, 2008
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 complexesLuis A Aguirre, Manuel Pérez-Bas, Manuela Villamar, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
Neuromuscular Disorders : NMD|May 18, 2010
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 geneHasan O Akman, Guido Davidzon, Kurenai Tanji, et al.
Neuromuscular Disorders : NMD|June 19, 2010
Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carersJoy Read, Anita Simonds, Maria Kinali, et al.
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