M. M. Joel

A Protocol for Single Nucleus RNAseq from Frozen Skeletal Muscle

N. Rosin, Carly Pontifex, S. Chhibber, 2022, bioRxiv.

Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect

K. Schellenberg, L. Korngut, M. King, 2021, Neurology: Genetics.

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

C. Besta, J. Poulton, Govinda Sharma, 2021, bioRxiv.

Title: Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

Govinda Sharma, J. D. Koning, Kristina Martens, 2021 .

Transcriptome analysis from muscle biopsy tissues in late-onset myopathies identifies potential biomarkers correlating to muscle pathology

Kristina Martens, G. Pfeffer, Carly Pontifex, 2022, Neuromuscular Disorders.