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Gerald Pfeffer

Showing results (41-50 of 93) with videos related to

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Neuromuscular Disorders : NMD|January 22, 2014
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failureGerald Pfeffer, Nyamkhishig Sambuughin, Montse Olivé, et al.
Nature Reviews. Neurology|July 4, 2024
Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosisSarah M Jacob, Sukyoung Lee, Seung Hyun Kim, et al.
Genes|June 24, 2022
Multisystem Proteinopathy Due to <i>VCP</i> Mutations: A Review of Clinical Heterogeneity and Genetic DiagnosisGerald Pfeffer, Grace Lee, Carly S Pontifex, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|September 8, 2023
Recessive Pathogenic <i>GMPPB</i> Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to PyridostigmineGordon Jewett, Benjamin Beland, Shahin Khayambashi, et al.
The Journal of Biological Chemistry|March 23, 2005
Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesisDavid Davidson, Antoine Blanc, Dominic Filion, et al.
European Journal of Human Genetics : EJHG|July 6, 2026
A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in CanadaMaya Binet, Gordon Jewett, Ari Breiner, et al.
International Journal of Molecular Sciences|November 11, 2020
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and ImportTian Zhao, Caitlin Goedhart, Gerald Pfeffer, et al.
Frontiers in Neurology|January 16, 2023
Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosisSarah M Orton, Amarpreet Sangha, Mehul Gupta, et al.
Journal of Neurology|February 4, 2016
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegiaGrant Guthrie, Gerald Pfeffer, Maura Bailie, et al.
Scientific Reports|November 24, 2021
A new automated tool to quantify nucleoid distribution within mitochondrial networksHema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, et al.
Pageof 10

Showing results (41-50 of 93) with videos related to

Sort By:
Pageof 10
Neuromuscular Disorders : NMD|January 22, 2014
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failureGerald Pfeffer, Nyamkhishig Sambuughin, Montse Olivé, et al.
Nature Reviews. Neurology|July 4, 2024
Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosisSarah M Jacob, Sukyoung Lee, Seung Hyun Kim, et al.
Genes|June 24, 2022
Multisystem Proteinopathy Due to <i>VCP</i> Mutations: A Review of Clinical Heterogeneity and Genetic DiagnosisGerald Pfeffer, Grace Lee, Carly S Pontifex, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|September 8, 2023
Recessive Pathogenic <i>GMPPB</i> Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to PyridostigmineGordon Jewett, Benjamin Beland, Shahin Khayambashi, et al.
The Journal of Biological Chemistry|March 23, 2005
Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesisDavid Davidson, Antoine Blanc, Dominic Filion, et al.
European Journal of Human Genetics : EJHG|July 6, 2026
A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in CanadaMaya Binet, Gordon Jewett, Ari Breiner, et al.
International Journal of Molecular Sciences|November 11, 2020
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and ImportTian Zhao, Caitlin Goedhart, Gerald Pfeffer, et al.
Frontiers in Neurology|January 16, 2023
Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosisSarah M Orton, Amarpreet Sangha, Mehul Gupta, et al.
Journal of Neurology|February 4, 2016
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegiaGrant Guthrie, Gerald Pfeffer, Maura Bailie, et al.
Scientific Reports|November 24, 2021
A new automated tool to quantify nucleoid distribution within mitochondrial networksHema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, et al.
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