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Arnaud Chevrollier

Showing results (71-80 of 79) with videos related to

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Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, 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.
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.
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.
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.
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 8

Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, 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.
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.
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.
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.
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
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