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Marc Ferré

Showing results (21-30 of 40) with videos related to

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Orphanet Journal of Rare Diseases|September 11, 2019
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome databaseBastien Le Roux, Guy Lenaers, Xavier Zanlonghi, et al.
Annals of Neurology|April 21, 2007
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique Loiseau, Arnaud Chevrollier, Christophe Verny, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Scientific Data|May 7, 2026
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variantsAude Rocatcher, Xavier Dieu, Valérie Desquiret-Dumas, et al.
Journal of Clinical Medicine|January 21, 2022
A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated OrbitopathyBenjamin Billiet, Juan Manuel Chao de la Barca, Marc Ferré, et al.
Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.
Annals of Neurology|March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutationKaren Cornille, Dan Milea, Patrizia Amati-Bonneau, 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.
Investigative Ophthalmology & Visual Science|January 18, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related DisordersCinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Orphanet Journal of Rare Diseases|September 11, 2019
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome databaseBastien Le Roux, Guy Lenaers, Xavier Zanlonghi, et al.
Annals of Neurology|April 21, 2007
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique Loiseau, Arnaud Chevrollier, Christophe Verny, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Scientific Data|May 7, 2026
A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variantsAude Rocatcher, Xavier Dieu, Valérie Desquiret-Dumas, et al.
Journal of Clinical Medicine|January 21, 2022
A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated OrbitopathyBenjamin Billiet, Juan Manuel Chao de la Barca, Marc Ferré, et al.
Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.
Annals of Neurology|March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutationKaren Cornille, Dan Milea, Patrizia Amati-Bonneau, 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.
Investigative Ophthalmology & Visual Science|January 18, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related DisordersCinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, et al.
Pageof 4