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Gerald Pfeffer

Showing results (81-90 of 93) with videos related to

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Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Ebiomedicine|June 25, 2019
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyWalaa Almutawa, Christopher Smith, Rasha Sabouny, et al.
American Journal of Medical Genetics. Part A|July 31, 2025
Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?Ala'a Alsayed, Zainab Hakim, Daria Merrikh, et al.
Orphanet Journal of Rare Diseases|January 30, 2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathyManisha Korb, Allison Peck, Lindsay N Alfano, et al.
Annals of Clinical and Translational Neurology|April 7, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathyBhaskar Roy, Allison Peck, Teresinha Evangelista, 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.
Translational Psychiatry|March 9, 2022
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, et al.
Translational Psychiatry|November 23, 2021
Methodology for clinical genotyping of CYP2D6 and CYP2C19Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
Neurology. Clinical Practice|December 18, 2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and AvailabilityVictor D Armengol, Basil T Darras, Ahmad A Abulaban, et al.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Ebiomedicine|June 25, 2019
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyWalaa Almutawa, Christopher Smith, Rasha Sabouny, et al.
American Journal of Medical Genetics. Part A|July 31, 2025
Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?Ala'a Alsayed, Zainab Hakim, Daria Merrikh, et al.
Orphanet Journal of Rare Diseases|January 30, 2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathyManisha Korb, Allison Peck, Lindsay N Alfano, et al.
Annals of Clinical and Translational Neurology|April 7, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathyBhaskar Roy, Allison Peck, Teresinha Evangelista, 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.
Translational Psychiatry|March 9, 2022
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, et al.
Translational Psychiatry|November 23, 2021
Methodology for clinical genotyping of CYP2D6 and CYP2C19Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
Neurology. Clinical Practice|December 18, 2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and AvailabilityVictor D Armengol, Basil T Darras, Ahmad A Abulaban, et al.
Pageof 10