Gerald Pfeffer

Gerald Pfeffer profile picture

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

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Research 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

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. 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

Jewett, G, Beland, B, Khayambashi, S, Silverstein, S, Donkervoort, S, Bönnemann, CG et al.. Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine. Can J Neurol Sci. 2023. 1-3 PMID:37681231

Boock, V, Roy, B, Pfeffer, G, Kimonis, V. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Curr Opin Neurol. 2023.36 (5)432-440 PMID:37678339

Marzoughi, S, Pfeffer, G, Cashman, N. Primary lateral sclerosis. Handb Clin Neurol. 2023.196 89-99 PMID:37620095

Sangha, A, Quon, M, Pfeffer, G, Orton, SM. The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update. Nutrients. 2023.15 (13) PMID:37447304

Roy, B, Peck, A, Evangelista, T, Pfeffer, G, Wang, L, Diaz-Manera, J et al.. Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy. Ann Clin Transl Neurol. 2023.10 (5)686-695 PMID:37026610

Soule, TG, Pontifex, CS, Rosin, N, Joel, MM, Lee, S, Nguyen, MD et al.. A protocol for single nucleus RNA-seq from frozen skeletal muscle. Life Sci Alliance. 2023.6 (5) PMID:36914268

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