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Vincent Procaccio

Showing results (161-170 of 197) with videos related to

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Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
Life Sciences|February 5, 2026
Screening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficienciesCarole H Sellem, Nolwenn Bounaix, Mathilde Logerais, et al.
Biomedicines|July 27, 2022
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body ExposureSophie Belal, David Goudenège, Cinzia Bocca, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Brain : a Journal of Neurology|September 17, 2016
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne Lévêque, Sandrine Marlin, Laurence Jonard, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Pageof 20

Showing results (161-170 of 197) with videos related to

Sort By:
Pageof 20
Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
Life Sciences|February 5, 2026
Screening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficienciesCarole H Sellem, Nolwenn Bounaix, Mathilde Logerais, et al.
Biomedicines|July 27, 2022
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body ExposureSophie Belal, David Goudenège, Cinzia Bocca, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Brain : a Journal of Neurology|September 17, 2016
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne Lévêque, Sandrine Marlin, Laurence Jonard, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
American Journal of Human Genetics|May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalitiesClaudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Pageof 20