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Neuromuscular Disorders : NMD|September 17, 2016
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-upD Natera-de Benito, J Domínguez-Carral, N Muelas, et al.
Neuromuscular Disorders : NMD|May 31, 2017
Expanding the phenotypic spectrum associated with mutations of DYNC1H1Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, et al.
Neuromuscular Disorders : NMD|June 21, 2017
Cystinosis distal myopathy, novel clinical, pathological and genetic featuresMacarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, et al.
Neuromuscular Disorders : NMD|June 14, 2017
Autosomal dominant distal myopathy due to a novel ACTA1 mutationTeerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, et al.
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Neuromuscular Disorders : NMD|February 6, 2010
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domainLuis Vernengo, Oussama Chourbagi, Ana Panuncio, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy geneW Kress, E Müller, K Kausch, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysisG Miller, A H Beggs, J Towfighi
Neuromuscular Disorders : NMD|June 18, 2017
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic maleCarola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, et al.
Neuromuscular Disorders : NMD|September 26, 2016
Treatment and outcomes in necrotising autoimmune myopathy: An Australian perspectiveCatherine Ashton, Reimar Junckerstorff, Chris Bundell, et al.
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