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 Working Group(s): Biobanking

Email Gerald

Research Interests: genetics, biomarkers, microbiome, clinical research

Academic web profile
Google Scholar profile
ResearchGate profile


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

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. 1-9 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

Orton, SM, Sangha, A, Gupta, M, Martens, K, Metz, LM, de Koning, APJ et al.. Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis. Front Neurol. 2022.13 1064008 PMID:36644209

Perera, T, Bencsik, C, Pfeffer, G, Mobach, T. New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement. Can J Neurol Sci. 2022. 1-3 PMID:36321541

Miller, TM, Cudkowicz, ME, Genge, A, Shaw, PJ, Sobue, G, Bucelli, RC et al.. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. N Engl J Med. 2022.387 (12)1099-1110 PMID:36129998

Joel, MM, Pontifex, C, Martens, K, Chhibber, S, de Koning, J, Pfeffer, G et al.. Transcriptome analysis from muscle biopsy tissues in late-onset myopathies identifies potential biomarkers correlating to muscle pathology. Neuromuscul Disord. 2022.32 (8)643-653 PMID:35850946

See more on PubMed