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Vincent Procaccio

Showing results (111-120 of 197) with videos related to

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Human Molecular Genetics|April 23, 2015
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instabilityClaire Angebault, Majida Charif, Naig Guegen, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 18, 2018
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndromeGuillaume Geffroy, Rayane Benyahia, Samuel Frey, et al.
Clinical Genetics|July 21, 2022
Expanding the phenotype of DNAJC30-associated Leigh syndromeMarta Zawadzka, Magdalena Krygier, Małgorzata Pawłowicz, et al.
Metabolites|February 5, 2020
A Data Mining Metabolomics Exploration of GlaucomaJudith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, et al.
Journal of Proteome Research|June 15, 2019
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted FibroblastsCinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Eye (London, England)|January 4, 2020
First characterization of LHON pedigrees in North AfricaAymane Bouzidi, Nisrine Aboussair, Majida Charif, et al.
Nature Communications|August 19, 2023
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variantsSalvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, et al.
American Journal of Human Genetics|May 11, 2006
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaVincent Procaccio, Gloria Salazar, Shoichiro Ono, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Genes|July 27, 2022
Next-Generation Sequencing Identifies Novel <i>PMPCA</i> Variants in Patients with Late-Onset Dominant Optic AtrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Pageof 20

Showing results (111-120 of 197) with videos related to

Sort By:
Pageof 20
Human Molecular Genetics|April 23, 2015
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instabilityClaire Angebault, Majida Charif, Naig Guegen, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 18, 2018
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndromeGuillaume Geffroy, Rayane Benyahia, Samuel Frey, et al.
Clinical Genetics|July 21, 2022
Expanding the phenotype of DNAJC30-associated Leigh syndromeMarta Zawadzka, Magdalena Krygier, Małgorzata Pawłowicz, et al.
Metabolites|February 5, 2020
A Data Mining Metabolomics Exploration of GlaucomaJudith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, et al.
Journal of Proteome Research|June 15, 2019
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted FibroblastsCinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Eye (London, England)|January 4, 2020
First characterization of LHON pedigrees in North AfricaAymane Bouzidi, Nisrine Aboussair, Majida Charif, et al.
Nature Communications|August 19, 2023
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variantsSalvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, et al.
American Journal of Human Genetics|May 11, 2006
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaVincent Procaccio, Gloria Salazar, Shoichiro Ono, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Genes|July 27, 2022
Next-Generation Sequencing Identifies Novel <i>PMPCA</i> Variants in Patients with Late-Onset Dominant Optic AtrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Pageof 20