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

Email Gerald

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

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. 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. 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

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