Myofibrillar Myopathy Mimicking Polyneuropathy

por Bourque, Pierre R., Breiner, Ari, Warman-Chardon, Jodi
Publicado 2020

Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy

por Parker, Vivien, Warman Chardon, Jodi, Mills, Julie, Goldsmith, Claire, Bourque, Pierre R.
Publicado 2016

Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review

por Bourque, Pierre R., Sampaio, Marcos Loreto, Warman-Chardon, Jodi, Samaan, Sam, Torres, Carlos
Publicado 2019

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies

por Lamacie, Mariana M., Warman-Chardon, Jodi, Crean, Andrew M., Florian, Anca, Wahbi, Karim
Publicado 2019

Age matters: Impact of data-driven CSF protein upper reference limits in Guillain-Barré syndrome

por Bourque, Pierre R., Brooks, John, McCudden, Christopher R., Warman-Chardon, Jodi, Breiner, Ari
Publicado 2019

Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

por Bourque, Pierre R., Brooks, John, Mobach, Theo, Gammon, Brendan, Papp, Steven, Warman-Chardon, Jodi
Publicado 2020

Correction: Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

por Bourque, Pierre R., Brooks, John, Mobach, Theo, Gammon, Braden, Papp, Steven, Warman-Chardon, Jodi
Publicado 2020

Isolated Internuclear Ophthalmoplegia as an Embolic Complication of Transcatheter Aortic Valve Implantation

por Thebault, Simon, Warman-Chardon, Jodi, O'Connell, Kathleen, Miller, William D, Bourque, Pierre R
Publicado 2022

Dataset for worldwide survey of cerebrospinal total protein upper reference values

por Bourque, Pierre R., Brooks, John, Warman-Chardon, Jodi, Hegen, Harald, Deisenhammer, Florian, McCudden, Chris R., Breiner, Ari
Publicado 2019

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

por McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M
Publicado 2014

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

por Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim
Publicado 2016

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

por Bourque, Pierre R., Warman-Chardon, Jodi, Lelli, Daniel A., LaBerge, Lauren, Kirshen, Carly, Bradshaw, Scott H., Hartley, Taila, Boycott, Kym M.
Publicado 2018

Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1

por Besant, Georgia, Bourque, Pierre R., Smith, Ian C., Chih, Sharon, Lamacie, Mariana M., Breiner, Ari, Zwicker, Jocelyn, Lochmüller, Hanns, Warman-Chardon, Jodi
Publicado 2022

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T., Friend, Kathie L., Dudding, Tracy E., Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W., Douglas, Stuart, Bulman, Dennis E., Boycott, Kym M.
Publicado 2022

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy

por Nash, Leslie A., McFall, Emily R., Perozzo, Amanda M., Turner, Maddison, Poulin, Kathy L., De Repentigny, Yves, Burns, Joseph K., McMillan, Hugh J., Warman Chardon, Jodi, Burger, Dylan, Kothary, Rashmi, Parks, Robin J.
Publicado 2017

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

por Slayter, Jeremy, Hodgkinson, Victoria, Lounsberry, Josh, Brais, Bernard, Chapman, Kristine, Genge, Angela, Izenberg, Aaron, Johnston, Wendy, Lochmüller, Hanns, O’Ferrall, Erin, Pfeffer, Gerald, Plamondon, Stephanie, Rodrigue, Xavier, Schellenberg, Kerri, Shoesmith, Christen, Stables, Christine, Taillon, Monique, Warman-Chardon, Jodi, Korngut, Lawrence, O’Connell, Colleen
Publicado 2021

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

por Lee, Michelle M., McDowell, Graeme S. V., De Vivo, Darryl C., Friedman, Daniel, Berkovic, Samuel F., Spanou, Maria, Dinopoulos, Argirios, Grand, Katheryn, Sanchez‐Lara, Pedro A., Allen‐Sharpley, Michelle, Warman‐Chardon, Jodi, Solyom, Alexander, Levade, Thierry, Schuchman, Edward H., Bennett, Steffany A. L., Dyment, David A., Pearson, Toni S.
Publicado 2022

Clinical and genetic study of hereditary spastic paraplegia in Canada

por Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin, Noreen, Mourabit-Amari, Karim, Provencher, Pierre, Boycott, Kym M., Stavropoulos, Dimitri J., Dion, Patrick A., Ray, Peter N., Suchowersky, Oksana, Rouleau, Guy A., Yoon, Grace
Publicado 2016

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

por Smith, Ian C., Pileggi, Chantal A., Wang, Ying, Kernohan, Kristin, Hartley, Taila, McMillan, Hugh J., Sampaio, Marcos Loreto, Melkus, Gerd, Woulfe, John, Parmar, Gaganvir, Bourque, Pierre R., Breiner, Ari, Zwicker, Jocelyn, Pringle, C. Elizabeth, Jarinova, Olga, Lochmüller, Hanns, Dyment, David A., Brais, Bernard, Boycott, Kym M., Hekimi, Siegfried, Harper, Mary-Ellen, Warman-Chardon, Jodi
Publicado 2023

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

por Deguise, Marc‐Olivier, Baranello, Giovanni, Mastella, Chiara, Beauvais, Ariane, Michaud, Jean, Leone, Alessandro, De Amicis, Ramona, Battezzati, Alberto, Dunham, Christopher, Selby, Kathryn, Warman Chardon, Jodi, McMillan, Hugh J., Huang, Yu‐Ting, Courtney, Natalie L., Mole, Alannah J., Kubinski, Sabrina, Claus, Peter, Murray, Lyndsay M., Bowerman, Melissa, Gillingwater, Thomas H., Bertoli, Simona, Parson, Simon H., Kothary, Rashmi
Publicado 2019