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Patrick Yu

Showing results (161-170 of 183) with videos related to

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Neuro-Ophthalmology (Aeolus Press)|January 7, 2021
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)Axel Petzold, Valerie Biousse, Lulu Bursztyn, et al.
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.
American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, 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.
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.
Ophthalmology and Therapy|November 30, 2022
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 MutationValerio Carelli, Nancy J Newman, Patrick Yu-Wai-Man, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
Cell Reports. Medicine|March 1, 2024
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trialPatrick Yu-Wai-Man, Valerio Carelli, Nancy J Newman, et al.
Pageof 19

Showing results (161-170 of 183) with videos related to

Sort By:
Pageof 19
Neuro-Ophthalmology (Aeolus Press)|January 7, 2021
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)Axel Petzold, Valerie Biousse, Lulu Bursztyn, et al.
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.
American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, 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.
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.
Ophthalmology and Therapy|November 30, 2022
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 MutationValerio Carelli, Nancy J Newman, Patrick Yu-Wai-Man, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
Cell Reports. Medicine|March 1, 2024
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trialPatrick Yu-Wai-Man, Valerio Carelli, Nancy J Newman, et al.
Pageof 19