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Pierre R Bourque

Showing results (61-70 of 67) with videos related to

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Journal of Neuromuscular Diseases|February 20, 2025
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophyIan C Smith, Marcos L Sampaio, Gerd Melkus, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|February 25, 2021
Autologous Hematopoietic Stem Cell Transplantation for Chronic Inflammatory Demyelinating PolyradiculoneuropathyJosée Masson-Roy, Ari Breiner, Jodi Warman-Chardon, et al.
Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Human Molecular Genetics|May 31, 2012
Evidence for an oligogenic basis of amyotrophic lateral sclerosisMarka van Blitterswijk, Michael A van Es, Eric A M Hennekam, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
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Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
Journal of Neuromuscular Diseases|February 20, 2025
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophyIan C Smith, Marcos L Sampaio, Gerd Melkus, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|February 25, 2021
Autologous Hematopoietic Stem Cell Transplantation for Chronic Inflammatory Demyelinating PolyradiculoneuropathyJosée Masson-Roy, Ari Breiner, Jodi Warman-Chardon, et al.
Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Human Molecular Genetics|May 31, 2012
Evidence for an oligogenic basis of amyotrophic lateral sclerosisMarka van Blitterswijk, Michael A van Es, Eric A M Hennekam, et al.
Annals of Clinical and Translational Neurology|April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada ConsortiumAlexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
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