Associated Papers
Review of RyR1 pathway and associated pathomechanisms.
Witherspoon JW et al.
Acta Neuropathologica Communications, 2016
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › All_Literature_Rev_Patients
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H et al.
Human Mutation, 2013
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Maggi L et al.
Neuromuscular Disorders : Nmd, 2013
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Wilmshurst JM et al.
Annals of Neurology, 2010
Select a paper to view details