Search Results - Gerald Pfeffer

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  1. 1

    Reinventing Medicine by Gerald Pfeffer

    Published in McGill Journal of Medicine (2020-12-01)
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  2. 2

    Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data by Mehul Gupta, Ana Nikolic, Denise Ng, Kristina Martens, Hamid Ebadi, Sameer Chhibber, Gerald Pfeffer, Gerald Pfeffer

    Published in Frontiers in Neurology (2019-05-01)
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  3. 3

    Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics by Govinda Sharma, Gerald Pfeffer, Timothy E. Shutt

    Published in Biology (2021-03-01)
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  4. 4

    Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis by Sarah M. Orton, Amarpreet Sangha, Mehul Gupta, Kristina Martens, Luanne M. Metz, A. P. J. de Koning, Gerald Pfeffer, Gerald Pfeffer

    Published in Frontiers in Neurology (2022-12-01)
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  5. 5

    From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis by Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern

    Published in Health Expectations (2025-06-01)
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  6. 6

    Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features by Zhiyv Niu, Zhiyv Niu, Carly Sabine Pontifex, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Gerald Pfeffer, Margherita Milone

    Published in Frontiers in Neurology (2018-03-01)
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  7. 7

    Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss [version 2; peer review: 2 approved, 1 approved... by Davide Martino, Kristina Martens, Matthew Joel, Rasha Sabouny, Mashiat Zaman, Timothy E. Shutt, Gerald Pfeffer, A.P. Jason de Koning, Govinda Sharma

    Published in F1000Research (2022-09-01)
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  8. 8

    CD2AP at the junction of nephropathy and Alzheimer’s disease by Milene Vandal, Mohsen Janmaleki, Isabel Rea, Colin Gunn, Sotaro Hirai, Jeff Biernaskie, Justin Chun, Grant Gordon, Andrey Shaw, Amir Sanati-Nezhad, Gerald Pfeffer, Frederic Calon, Minh Dang Nguyen

    Published in Molecular Neurodegeneration (2025-06-01)
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  9. 9

    Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation by Kelsey R Baron, Samantha Oviedo, Sophia Krasny, Mashiat Zaman, Rama Aldakhlallah, Prerona Bora, Prakhyat Mathur, Gerald Pfeffer, Michael J Bollong, Timothy E Shutt, Danielle A Grotjahn, R Luke Wiseman

    Published in eLife (2025-02-01)
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  10. 10

    Prognostic Utility of Cardiovascular Magnetic Resonance–Based Phenotyping in Patients With Muscular Dystrophy by Niharika Kashyap, Anish Nikhanj, Dina Labib, Easter Prosia, Sandra Rivest, Jacqueline Flewitt, Gerald Pfeffer, Jeffrey A. Bakal, Zaeem A. Siddiqi, Richard A. Coulden, Richard Thompson, James A. White, Gavin Y. Oudit

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  11. 11

    Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol by Ian C. Smith, Yasmin Abusetah, Homira Osman, Aditi Garg, Alyssa Grant, Hanns Lochmuller, Hugh McMillan, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Stacey Lintern, Daria Wojtal, Kathy Selby, Kednapa Thavorn, Jodi Warman-Chardon

    Published in Orphanet Journal of Rare Diseases (2025-08-01)
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  12. 12

    Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s disease using machine learning by Mehrafarin Ramezani, Pauline Mouches, Eunjin Yoon, Deepthi Rajashekar, Jennifer A. Ruskey, Etienne Leveille, Kristina Martens, Mekale Kibreab, Tracy Hammer, Iris Kathol, Nadia Maarouf, Justyna Sarna, Davide Martino, Gerald Pfeffer, Ziv Gan-Or, Nils D. Forkert, Oury Monchi

    Published in Scientific Reports (2021-03-01)
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  13. 13

    The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyResearch in context by Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

    Published in EBioMedicine (2019-07-01)
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  14. 14

    Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy by Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis

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  15. 15

    Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19 by 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 Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison

    Published in Translational Psychiatry (2022-03-01)
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  16. 16

    FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium by Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott

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