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Neuromuscular Disorders : NMD|November 7, 2021
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantationJuliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme Ferraz Messina de Pádua Andrade, et al.
Neuromuscular Disorders : NMD|November 10, 2021
Effectiveness of thymectomy in juvenile myasthenia gravis and clinical characteristics associated with better outcomesWei Chin Ng, Louise Hartley
Neuromuscular Disorders : NMD|October 30, 2012
Pipestem capillaries in necrotizing myopathy revisitedNicolas W J Schröder, Hans-Hilmar Goebel, Almuth Brandis, et al.
Neuromuscular Disorders : NMD|May 24, 2014
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathySatoko Miyatake, Eriko Koshimizu, Yukiko K Hayashi, et al.
Neuromuscular Disorders : NMD|November 3, 2012
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practiceAlessandra Ferlini, Marcella Neri, Francesca Gualandi
Neuromuscular Disorders : NMD|November 7, 2012
Congenital myopathy with focal loss of cross-striations revisitedN C Voermans, H Jungbluth, E Aronica, et al.
Neuromuscular Disorders : NMD|May 20, 2014
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature reviewKimihiko Kaneko, Hiroshi Kuroda, Rumiko Izumi, et al.
Neuromuscular Disorders : NMD|January 14, 2014
Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - a cross-sectional study - including reference values of Timed Up & Go, 10m walk and step testElisabet Hammarén, Gunilla Kjellby-Wendt, Jan Kowalski, et al.
Neuromuscular Disorders : NMD|June 25, 2014
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathySophelia H S Chan, A Reghan Foley, Rahul Phadke, et al.
Neuromuscular Disorders : NMD|June 1, 2014
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21E Calpena, D Martínez-Rubio, J Arpa, et al.
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