Title: | Intracellular calcium leak as a therapeutic target for RYR1-related myopathies |
Journal : | Acta neuropathologica |
Authors: | Kushnir A ; Todd JJ ; Witherspoon JW ; Yuan Q ; Reiken S ; Lin H ; Munce RH ; Wajsberg B ; Melville Z ; Clarke OB ; Wedderburn-Pugh K ; Wronska A ; Razaqyar MS ; Chrismer IC ; Shelton MO ; Mankodi A ; Grunseich C ; Tarnopolsky MA ; Tanji K ; Hirano M ; Riazi S ; Kraeva N ; Voermans NC ; Gruber A ; Allen C ; Meilleur KG ; Marks AR |
Material Type: | Article |
Publisher: | Germany, 03/2020 |
Languages: | English |
Keywords : | adulthood ; congenital myopathy ; diagnosis ; genotype-phenotype correlation ; muscle biopsies ; observational research ; physiopathology ; RYR1 gene ; therapeutic strategy |
Keywords: | calcium;central core disease;genetics;RyR1-related myopathy;ryanodine receptor;therapeutics; |
Pubmed / DOI : | Pubmed : 32236737 / DOI : 10.1007/s00401-020-02150-w |
N° Profil MNM : | 2020041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32236737 |