Results 1 -
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21
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Neuromuscular disease
- ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ...
- ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4): ...
- ... S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. Neurology. 2017 Jan ...
- ... S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. Neurology. 2017 Jan ...
- ... Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum Mutat. 2006 Jun;27(6):600-1. doi: 10.1002/humu.9426. Citation on PubMed Schreuder AB, Rossi A, Grunert SC, Derks TGJ. Glycogen Storage Disease Type III. 2010 Mar 9 [updated 2022 Jan ...
- ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
- ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
- ... genes and three intercellular signalling pathways on enteric neuromuscular ... in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
- ... Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug ... Citation on PubMed
- ... is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA ... with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1): ...