Søgeresultater - Gerald Pfeffer

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

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

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A protocol for single nucleus RNA-seq from frozen skeletal muscle af Tyler GB Soule, Carly S Pontifex, Nicole Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer

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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... af Davide Martino, Kristina Martens, Matthew Joel, Rasha Sabouny, Mashiat Zaman, Timothy E. Shutt, Gerald Pfeffer, A.P. Jason de Koning, Govinda Sharma

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The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation af Mashiat Zaman, Govinda Sharma, Walaa Almutawa, Tyler GB Soule, Rasha Sabouny, Matt Joel, Armaan Mohan, Cole Chute, Jeffrey T Joseph, Gerald Pfeffer, Timothy E Shutt

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CD2AP at the junction of nephropathy and Alzheimer’s disease af 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

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Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation af 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

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Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol af 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

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Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives af Homira Osman, Zainab Adamji, Stacey Lintern, Ian C. Smith, Alyssa Grant, Lola E.R. Lessard, Hanns Lochmuller, Hugh McMillan, Kathryn Selby, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Kednapa Thavorn, Jodi Warman‐Chardon

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Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s disease using machine learning af 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

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FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium af 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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Comprehensive analysis platform to understand, remedy, and eliminate amyotrophic lateral sclerosis (CAPTURE ALS): Study protocol for a Canadian multicenter, multimodal, longitudina... af Natalie Saunders, Claire Magnussen, HyungMo Kang, Mathieu Blais, Harpreet Bhinder, Gerald Pfeffer, Shelagh K. Genuis, Liziane Bouvier, Tanushka Anand, Rida Abou-Haidar, Agessandro Abrahao, Marie-Noëlle Boivin, Robert Bowser, Tania Bubela, Julia Chiappini, Samir Das, Avnit Dhanoa, Nicolas Dupré, Alan Evans, Nicolas Ferry, Yvonne Frater, Angela Genge, Simon J. Graham, Russell Greiner, Yasser Iturria Medina, Wendy S. Johnston, Kelvin E. Jones, Jason Karamchandani, Jasna Kriz, Westerly Luth, Geneviève Matte, Ekaterina Rogaeva, Janice Robertson, Peter Seres, Fred Tam, David Taylor, Clémence Tremblay-Desbiens, Christine Vande Velde, Yana Yunusova, Lorne Zinman, Sanjay Kalra

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Comprehensive analysis platform to understand, remedy, and eliminate amyotrophic lateral sclerosis (CAPTURE ALS): Study protocol for a Canadian multicenter, multimodal, longitudina... af Natalie Saunders, Claire Magnussen, HyungMo Kang, Mathieu Blais, Harpreet Bhinder, Gerald Pfeffer, Shelagh K Genuis, Liziane Bouvier, Tanushka Anand, Rida Abou-Haidar, Agessandro Abrahao, Marie-Noëlle Boivin, Robert Bowser, Tania Bubela, Julia Chiappini, Samir Das, Avnit Dhanoa, Nicolas Dupré, Alan Evans, Nicolas Ferry, Yvonne Frater, Angela Genge, Simon J Graham, Russell Greiner, Yasser Iturria Medina, Wendy S Johnston, Kelvin E Jones, Jason Karamchandani, Jasna Kriz, Westerly Luth, Geneviève Matte, Ekaterina Rogaeva, Janice Robertson, Peter Seres, Fred Tam, David Taylor, Clémence Tremblay-Desbiens, Christine Vande Velde, Yana Yunusova, Lorne Zinman, Sanjay Kalra

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