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Isabelle Meunier

Showing results (121-130 of 148) with videos related to

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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.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
JAMA Ophthalmology|April 9, 2026
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic AtrophyCléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
BMJ Open|February 26, 2025
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trialRenuka P Dias, Kristian Brock, Kun Hu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Pageof 15

Showing results (121-130 of 148) with videos related to

Sort By:
Pageof 15
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.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
JAMA Ophthalmology|April 9, 2026
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic AtrophyCléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
BMJ Open|February 26, 2025
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trialRenuka P Dias, Kristian Brock, Kun Hu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Pageof 15