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Neuromuscular Disorders : NMD|February 10, 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, et al.
Neuromuscular Disorders : NMD|January 1, 2018
Mitochondrial dysfunction in myotonic dystrophy type 1Laura Ludovica Gramegna, Maria Pia Giannoccaro, David Neil Manners, et al.
Neuromuscular Disorders : NMD|January 1, 2019
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe diseaseJosé Guevara-Campos, Lucía González-Guevara, Omar Cauli
Neuromuscular Disorders : NMD|December 19, 2018
Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature reviewPatricia Hafner, Rahul Phadke, Adnan Manzur, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Neuromuscular Disorders : NMD|November 12, 2019
Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegiaSabine Rudnik-Schöneborn, Martina Huemer, Joachim Weis, et al.
Neuromuscular Disorders : NMD|February 10, 2019
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature reviewWo-Tu Tian, Xing-Hua Luan, Hai-Yan Zhou, et al.
Neuromuscular Disorders : NMD|November 25, 2017
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleedingFlorian Brackmann, Matthias Türk, Nils Gratzki, et al.
Neuromuscular Disorders : NMD|January 16, 2019
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutationsEva Michael, Carola Hedberg-Oldfors, Philip Wilmar, et al.
Neuromuscular Disorders : NMD|December 17, 2019
Nivolumab and Ipilimumab-induced myositis and myocarditis mimicking a myasthenia gravis presentationRafael Valenti-Azcarate, Ines Esparragosa Vazquez, Carlos Toledano Illan, et al.
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