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Neuromuscular Disorders : NMD|January 9, 2018
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicingWenhua Zhu, Masaki Eto, Satomi Mitsuhashi, et al.
Neuromuscular Disorders : NMD|March 24, 2018
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriersKevin J Felice, Charles H Whitaker, Qian Wu
Neuromuscular Disorders : NMD|March 24, 2018
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNAGitte Hedermann, Julia R Dahlqvist, Nicoline Løkken, et al.
Neuromuscular Disorders : NMD|March 24, 2018
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1Vincenzo Russo, Andrea Antonio Papa, Anna Rago, et al.
Neuromuscular Disorders : NMD|January 24, 2018
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective surveyA C Jiménez-Moreno, J Raaphorst, H Babačić, et al.
Neuromuscular Disorders : NMD|January 2, 2018
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional careEugenio Mercuri, Richard S Finkel, Francesco Muntoni, et al.
Neuromuscular Disorders : NMD|December 2, 2017
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth diseaseJun Fu, Yun Yuan
Neuromuscular Disorders : NMD|February 11, 2018
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature reviewPriscille Couture, Edoardo Malfatti, Geneviève Morau, et al.
Neuromuscular Disorders : NMD|November 6, 2017
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient dataRianne J M Goselink, Nicol C Voermans, Kees Okkersen, et al.
Neuromuscular Disorders : NMD|December 24, 2018
Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohortYing Hou, Meirong Liu, Yue-Bei Luo, et al.
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