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Results 1 - 10 of 21 for Neuromuscular disease
  1. Giant axonal neuropathy 
    ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ...
    https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy - Genetics
  2. Glycogen storage disease type IV 
    ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4): ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  3. PABPN1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pabpn1 - Genetics
  4. Oculopharyngeal muscular dystrophy 
    ... 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 ...
    https://medlineplus.gov/.../oculopharyngeal-muscular-dystrophy - Genetics
  5. Glycogen storage disease type III 
    ... 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 ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iii - Genetics
  6. Central core disease 
    ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  7. RYR1 gene 
    ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  8. EDN3 gene 
    ... genes and three intercellular signalling pathways on enteric neuromuscular ... in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  9. Early-onset myopathy with fatal cardiomyopathy 
    ... Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug ... Citation on PubMed
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  10. IGHMBP2 gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
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