NMD4C

The Neuromuscular Disease Network for Canada

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Gerald Pfeffer

3by2Gerald Pfeffer

Working Group Member

Assistant Professor, Clinical Neurosciences, Medical Genetics at the University of Calgary

Full Member of the Hotchkiss Brain Institute


NMD4C Working Group(s): Biobanking

Email Gerald

Research Interests: Multiple Sclerosis, Spinal Cord / Nerve Injury & Pain

Academic web profile
Google Scholar profile
ResearchGate profile

Biography

Dr. Pfeffer is a clinician-scientist at 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

Henriques, BC, Buchner, A, Hu, X, Wang, Y, Yavorskyy, V, Wallace, K et al.. Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19. Transl Psychiatry. 2022.12 (1)94 PMID:35260547

Maroilley, T, Wright, NAM, Diao, C, MacLaren, L, Pfeffer, G, Sarna, JR et al.. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia. Front Genet. 2022.13 815210 PMID:35145552

Korb, M, Peck, A, Alfano, LN, Berger, KI, James, MK, Ghoshal, N et al.. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis. 2022.17 (1)23 PMID:35093159

Ilamathi, HS, Ouellet, M, Sabouny, R, Desrochers-Goyette, J, Lines, MA, Pfeffer, G et al.. A new automated tool to quantify nucleoid distribution within mitochondrial networks. Sci Rep. 2021.11 (1)22755 PMID:34815439

Carvalho Henriques, B, Buchner, A, Hu, X, Wang, Y, Yavorskyy, V, Wallace, K et al.. Methodology for clinical genotyping of CYP2D6 and CYP2C19. Transl Psychiatry. 2021.11 (1)596 PMID:34811360

Leckie, JN, Joel, MM, Martens, K, King, A, King, M, Korngut, LW et al.. Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect. Neurol Genet. 2021.7 (4)e607 PMID:34250227

Slayter, J, Hodgkinson, V, Lounsberry, J, Brais, B, Chapman, K, Genge, A et al.. A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method. J Neuromuscul Dis. 2021.8 (4)579-588 PMID:33867362

Sharma, G, Pfeffer, G, Shutt, TE. Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics. Biology (Basel). 2021.10 (4) PMID:33810506

Ramezani, M, Mouches, P, Yoon, E, Rajashekar, D, Ruskey, JA, Leveille, E et al.. Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning. Sci Rep. 2021.11 (1)4917 PMID:33649398

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