Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Vincent Procaccio

Showing results (131-140 of 197) with videos related to

Pageof 20
Sort By:
Bioscience Reports|September 12, 2022
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatmentMeriem Hechmi, Majida Charif, Ichraf Kraoua, et al.
Journal of Immunology (Baltimore, Md. : 1950)|March 31, 2017
IL-26 Confers Proinflammatory Properties to Extracellular DNACaroline Poli, Jean François Augusto, Jonathan Dauvé, et al.
Investigative Ophthalmology & Visual Science|June 12, 2019
Nicotinamide Deficiency in Primary Open-Angle GlaucomaJudith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Annals of Neurology|March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutationKaren Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Scientific Reports|August 3, 2018
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate DeficiencyCinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Disease Models & Mechanisms|June 3, 2015
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapiesJean-Paul Lasserre, Alain Dautant, Raeka S Aiyar, et al.
Pageof 20

Showing results (131-140 of 197) with videos related to

Sort By:
Pageof 20
Bioscience Reports|September 12, 2022
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatmentMeriem Hechmi, Majida Charif, Ichraf Kraoua, et al.
Journal of Immunology (Baltimore, Md. : 1950)|March 31, 2017
IL-26 Confers Proinflammatory Properties to Extracellular DNACaroline Poli, Jean François Augusto, Jonathan Dauvé, et al.
Investigative Ophthalmology & Visual Science|June 12, 2019
Nicotinamide Deficiency in Primary Open-Angle GlaucomaJudith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Annals of Neurology|March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutationKaren Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Scientific Reports|August 3, 2018
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate DeficiencyCinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Disease Models & Mechanisms|June 3, 2015
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapiesJean-Paul Lasserre, Alain Dautant, Raeka S Aiyar, et al.
Pageof 20