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Neuromuscular Disorders : NMD|December 10, 1997
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutationJ M Stajich, J M Gilchrist, F Lennon, et al.
Neuromuscular Disorders : NMD|December 10, 1997
Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French casesS Périé, B Eymard, L Laccourreye, et al.
Neuromuscular Disorders : NMD|April 20, 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variantPushpa Raj Joshi, Karen Baty, Sila Hopton, et al.
Neuromuscular Disorders : NMD|April 20, 2020
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaireElisa De Mattia, Andrea Lizio, Elisa Falcier, et al.
Neuromuscular Disorders : NMD|August 17, 2016
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)Andreea M Seferian, Edoardo Malfatti, Caroline Bosson, et al.
Neuromuscular Disorders : NMD|August 22, 2021
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletionsLe Guo, Periyasamy Govindaraj, Mariëlle Kievit, et al.
Neuromuscular Disorders : NMD|May 26, 2021
Prevalence and associated factors of fatigue in autoimmune myasthenia gravisAnnabel M Ruiter, Jan J G M Verschuuren, Martijn R Tannemaat
Neuromuscular Disorders : NMD|August 13, 2021
Musculoskeletal magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophyNatasha L Hornby, Randi Drees, Rachel Harron, et al.
Neuromuscular Disorders : NMD|November 27, 2004
Magnetic resonance imaging of muscle in nemaline myopathyHeinz Jungbluth, Caroline A Sewry, Serena Counsell, et al.
Neuromuscular Disorders : NMD|November 27, 2004
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutationAntonella Spinazzola, Franco Carrara, Marina Mora, et al.
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