Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Human Molecular Genetics
Suman, Matteo M; Sharpe, Jenny A JA; Bentham, Robert B RB; Kotiadis, Vassilios N VN; Menegollo, Michela M; Pignataro, Viviana V; Molgó, Jordi J; Muntoni, Francesco F; Duchen, Michael R MR; Pegoraro, Elena E; Szabadkai, Gyorgy G