Gerald Pfeffer

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 32

Top Topics

Amyotrophic Lateral Sclerosis

Botulinum Toxin

Endoplasmic Reticulum

Top Venues

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Brain : a journal of neurology

Neurology. Clinical practice

This page only lists publications with an associated author ORCID identifier.

Publications

Carly S Pontifex, Mashiat Zaman, Roberto Dalto Fanganiello, Timothy E Shutt, Gerald Pfeffer
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. International journal of molecular sciences 25 (11) (2024)
Ryan Lamont, Malcolm King, Alexandra King, Kerri Schellenberg, Gerald Pfeffer
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada. Brain : a journal of neurology 147 (5) (2024)
Carly S Pontifex, Mashiat Zaman, Roberto Dalto Fanganiello, Timothy E Shutt, Gerald Pfeffer
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. International journal of molecular sciences 25 (11) (2024)
Rachel J Sharkey, Filomeno Cortese, Bradley Gordon Goodyear, Lawrence W Korngut, Sarah M Jacob, Keith A Sharkey, Sanjay Kalra, Minh Dang Nguyen, Richard Frayne, Gerald Pfeffer
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis. Brain : a journal of neurology (2024)
Carly S Pontifex, Mashiat Zaman, Roberto Dalto Fanganiello, Timothy E Shutt, Gerald Pfeffer
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. International journal of molecular sciences 25 (11) (2024)
Ryan Lamont, Malcolm King, Alexandra King, Kerri Schellenberg, Gerald Pfeffer
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada. Brain : a journal of neurology 147 (5) (2024)
Ryan Lamont, Malcolm King, Alexandra King, Kerri Schellenberg, Gerald Pfeffer
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada. Brain : a journal of neurology (2024)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Gordon A E Jewett, Benjamin Beland, Shahin Khayambashi, Sarah Silverstein, Sandra Donkervoort, Carsten G Bönnemann, Gerald Pfeffer, Sameer Chhibber
Recessive pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2023)
Tyler Gb Soule, Carly S Pontifex, Nicole L Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer
A protocol for single nucleus RNA-seq from frozen skeletal muscle. Life science alliance 6 (5) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Tyler Gb Soule, Carly S Pontifex, Nicole L Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer
A protocol for single nucleus RNA-seq from frozen skeletal muscle. Life science alliance 6 (5) (2023)
Amarpreet Sangha, Michaela Quon, Gerald Pfeffer, Sarah-Michelle Orton
The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update. Nutrients 15 (13) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Niharika Kashyap, Anish Nikhanj, Dina Labib, Easter Prosia, Sandra Rivest, Jacqueline A Flewitt, Gerald Pfeffer, Jeffrey A Bakal, Zaeem A Siddiqi, Richard A Coulden, Richard B Thompson, James A White, Gavin Y Oudit
Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy. Journal of the American Heart Association (2023)
Tyler Gb Soule, Carly S Pontifex, Nicole L Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer
A protocol for single nucleus RNA-seq from frozen skeletal muscle. Life science alliance 6 (5) (2023)
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss. F1000Research 10 (2022)
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss. F1000Research 10 (2022)
Tefani Perera, Caralyn Bencsik, Gerald Pfeffer, Theodore Mobach
New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2022)
Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella D C Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J Aitchison
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19. Translational psychiatry 12 (1) (2022)
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss. F1000Research 10 (2022)
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss. F1000Research 10 (2022)
Gerald Pfeffer, Grace Lee, Carly S Pontifex, Roberto Dalto Fanganiello, Allison Peck, Conrad C Weihl, Virginia Kimonis
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis. Genes 13 (6) (2022)
Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella D C Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J Aitchison
Methodology for clinical genotyping of CYP2D6 and CYP2C19. Translational psychiatry 11 (1) (2021)
Govinda Sharma, Gerald Pfeffer, Timothy E Shutt
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics. Biology 10 (4) (2021)
Aaron R Switzer, Benjamin Beland, Justyna R Sarna, Alison Walzak, Gerald Pfeffer
Fentanyl Overdose Causing Hippocampal Ischaemia Followed by Delayed Leukoencephalopathy. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 47 (3) (2021)
Jamie N Leckie, Matthew M Joel, Kristina Martens, Alexandra King, Malcolm King, Lawrence W Korngut, A P Jason de Koning, Gerald Pfeffer, Kerri L Schellenberg
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect. Neurology. Genetics 7 (4) (2021)
Victoria L Hodgkinson, Kristine Chapman, Aaron Izenberg, Hanns Lochmüller, Colleen O'Connell, Erin K O'Ferrall, Maryam Oskoui, Gerald Pfeffer, Stephanie Plamondon, Xavier Rodrigue, Christen Shoesmith, Jodi Warman-Chardon, Bernard Brais, Lawrence Korngut, Kerri Schellenberg
Response to Provincial Governments' Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 48 (2) (2020)
Victoria L Hodgkinson, Maryam Oskoui, Joshua Lounsberry, Saïd M'Dahoma, Emily Butler, Craig Campbell, Alex MacKenzie, Hugh J Mcmillan, Louise Simard, Jiri Vajsar, Bernard Brais, Kristine M Chapman, Nicolas Chrestian, Meghan Crone, Peter Dobrowolski, Susan Dojeiji, James J Dowling, Nicolas Dupre, Angela Genge, Hernan Gonorazky, Simona Hasal, Aaron Izenberg, Wendy Johnston, Edward Leung, Hanns Lochmüller, Jean K Mah, Alier Marerro, Rami Massie, Laura McAdam, Anna McCormick, Michel Melanson, Michelle M Mezei, Cam-Tu E Nguyen, Colleen O'Connell, Erin K O'Ferrall, Gerald Pfeffer, Cecile Phan, Stephanie Plamondon, Chantal Poulin, Xavier Rodrigue, Kerri L Schellenberg, Kathy Selby, Jordan Sheriko, Christen Shoesmith, Garth Smith, Monique Taillon, Sean Taylor, Jodi Warman Chardon, Scott Worley, Lawrence Korngut
A National Spinal Muscular Atrophy Registry for Real-World Evidence. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 47 (6) (2020)
Matthew Boyko, Ka Loong Kelvin Au, Colin Casault, Paula de Robles, Gerald Pfeffer
Systematic review of the clinical spectrum of CASPR2 antibody syndrome. Journal of neurology 267 (4) (2020)
Momen Almomen, Kristina Martens, Asfia Quadir, Carly Sabine Pontifex, Alexandra Hanson, Lawrence Korngut, Gerald Pfeffer
High diagnostic yield and novel variants in very late-onset spasticity. Journal of neurogenetics 33 (1) (2019)
Asfia Quadir, Carly Sabine Pontifex, Helen Lee Robertson, Christopher Labos, Gerald Pfeffer
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy. Neurology. Genetics 5 (4) (2019)