Irene C. Chrismer

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon et al. · Acta Neuropathologica · 2020 · 67 citations · Full text

Molecular Biology, Pathology, Intracellular Calcium Leak +2

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Minal Jain, Katherine G. Meilleur, Eunhee Kim et al. · Neurology · 2019 · 52 citations · Full text

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Joshua J. Todd, Vatsala Sagar, Tokunbor A. Lawal et al. · Journal of Neurology · 2018 · 47 citations · Full text

Randomized controlled trial of <i>N</i> -acetylcysteine therapy for <i>RYR1</i> -related myopathies

Joshua J. Todd, Tokunbor A. Lawal, Jessica W. Witherspoon et al. · Neurology · 2020 · 40 citations · Full text

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

Jessica W. Witherspoon, Ruhi Vasavada, M. Waite et al. · Orphanet Journal of Rare Diseases · 2018 · 23 citations · Full text