Results 1 - 10 of 25 for neuromuscular diseases
  1. ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ...
  2. ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4): ...
  3. ... 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 ...
  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 ...
  5. ... 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. Citation on PubMed
  6. ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
  7. ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
  8. ... genes and three intercellular signalling pathways on enteric neuromuscular ... in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
  9. ... Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J ... Cardiol. 2001 Jul-Aug;22(4):297-301. Citation on PubMed
  10. ... syndrome Escobar type Multiple pterygium syndrome lethal type Disease ... Pomroy P, Sewry CA. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatr Dev ...
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