Gerald Pfeffer
Working Group Member
Associate Professor, Clinical Neurosciences, Medical Genetics, and Neurologist, University of Calgary
Full Member of the Hotchkiss Brain Institute
NMD4C Involvement: Pillar 1: Preclinical Science, Pillar 2: Clinical Research, Theme 2: EDII
Email GeraldResearch Interests: genetics, biomarkers, microbiome, clinical research
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Biography
Dr. Pfeffer is a clinician-scientist and associate professor at the University of Calgary. He did Neurology specialty training at UBC and Genetics PhD at Newcastle University. His clinical and research work focuses on adult-onset neurogenetic conditions.
Recent Publications
Sharkey, RJ, Cortese, F, Goodyear, BG, Korngut, LW, Jacob, SM, Sharkey, KA et al.. Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis. Brain. 2024.147 (12)4026-4032 PMID:39241118
Jacob, SM, Lee, S, Kim, SH, Sharkey, KA, Pfeffer, G, Nguyen, MD et al.. Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis. Nat Rev Neurol. 2024.20 (8)475-494 PMID:38965379
Baron, KR, Oviedo, S, Krasny, S, Zaman, M, Aldakhlallah, R, Bora, P et al.. Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation. bioRxiv. 2024. PMID:38915623
Pontifex, CS, Zaman, M, Fanganiello, RD, Shutt, TE, Pfeffer, G. Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. Int J Mol Sci. 2024.25 (11) PMID:38891822
Klein, KM, Mascarenhas, R, Merrikh, D, Khanbabaei, M, Maroilley, T, Kaur, N et al.. Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique. Epilepsia. 2024.65 (6)1768-1776 PMID:38587282
Lamont, R, King, M, King, A, Schellenberg, K, Pfeffer, G. Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada. Brain. 2024.147 (5)e43-e44 PMID:38366260
Armengol, VD, Darras, BT, Abulaban, AA, Alshehri, A, Barisic, N, Ben-Omran, T et al.. Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurol Clin Pract. 2024.14 (1)e200224 PMID:38107546
Kashyap, N, Nikhanj, A, Labib, D, Prosia, E, Rivest, S, Flewitt, J et al.. Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy. J Am Heart Assoc. 2023.12 (21)e030229 PMID:37929714
Abusrair, A, Mititelu, A, Pfeffer, G, Rosenegger, L, Aquino, CC. Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism. Parkinsonism Relat Disord. 2023.116 105855 PMID:37844350
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