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Vincent Procaccio

Showing results (181-190 of 197) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.
Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
The Journal of Clinical Investigation|October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like featuresRaphael Carapito, Martina Konantz, Catherine Paillard, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Pageof 20

Showing results (181-190 of 197) with videos related to

Sort By:
Pageof 20
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.
Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
The Journal of Clinical Investigation|October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like featuresRaphael Carapito, Martina Konantz, Catherine Paillard, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Pageof 20