Jason R Vanstone

Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles

M. Holcik, Christine Péladeau, B. Jasmin, 2020, Nature Communications.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.

M. Holcik, P. Chakraborty, J. Brophy, 2015, JIMD reports.

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

E. Sell, K. Boycott, M. Tétreault, 2015, European Journal of Human Genetics.

Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles

M. Holcik, Christine Péladeau, B. Jasmin, 2020, Nature Communications.

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay

Hwanho Choi, Michael A McDonough, Christopher J Schofield, 2015, Journal of Medical Genetics.