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

Isabelle Audo

Showing results (71-80 of 234) with videos related to

Pageof 24
Sort By:
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy|February 10, 2021
Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL StudyCatherine Vignal-Clermont, Jean-François Girmens, Isabelle Audo, et al.
JAMA Ophthalmology|October 20, 2022
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar CellsVasily M Smirnov, Matthieu P Robert, Christel Condroyer, et al.
Retina (Philadelphia, Pa.)|August 23, 2020
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHYMarco Nassisi, Juliette Wohlschlegel, Bingqian Liu, et al.
Investigative Ophthalmology & Visual Science|April 2, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyAlessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, et al.
Human Mutation|November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
International Journal of Molecular Sciences|June 24, 2022
Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal DystrophyVasily M Smirnov, Baptiste Wilmet, Marco Nassisi, et al.
The European Journal of Neuroscience|May 23, 2015
LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formationMarion Neuillé, Catherine W Morgans, Yan Cao, et al.
American Journal of Ophthalmology|July 12, 2023
Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual RealityColas Nils Authié, Mylène Poujade, Alireza Talebi, et al.
American Journal of Ophthalmology|August 30, 2019
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular DystrophyEdouard Augstburger, Raphaëlle Orès, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science|April 27, 2011
Copy-number variations in EYS: a significant event in the appearance of arRPJuan I Pieras, Isabel Barragán, Salud Borrego, et al.
Pageof 24

Showing results (71-80 of 234) with videos related to

Sort By:
Pageof 24
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy|February 10, 2021
Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL StudyCatherine Vignal-Clermont, Jean-François Girmens, Isabelle Audo, et al.
JAMA Ophthalmology|October 20, 2022
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar CellsVasily M Smirnov, Matthieu P Robert, Christel Condroyer, et al.
Retina (Philadelphia, Pa.)|August 23, 2020
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHYMarco Nassisi, Juliette Wohlschlegel, Bingqian Liu, et al.
Investigative Ophthalmology & Visual Science|April 2, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyAlessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, et al.
Human Mutation|November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
International Journal of Molecular Sciences|June 24, 2022
Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal DystrophyVasily M Smirnov, Baptiste Wilmet, Marco Nassisi, et al.
The European Journal of Neuroscience|May 23, 2015
LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formationMarion Neuillé, Catherine W Morgans, Yan Cao, et al.
American Journal of Ophthalmology|July 12, 2023
Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual RealityColas Nils Authié, Mylène Poujade, Alireza Talebi, et al.
American Journal of Ophthalmology|August 30, 2019
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular DystrophyEdouard Augstburger, Raphaëlle Orès, Saddek Mohand-Said, et al.
Investigative Ophthalmology & Visual Science|April 27, 2011
Copy-number variations in EYS: a significant event in the appearance of arRPJuan I Pieras, Isabel Barragán, Salud Borrego, et al.
Pageof 24