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Michele Carbonelli

Showing results (71-80 of 83) with videos related to

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Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 26, 2021
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy StudiesMark L Moster, Robert C Sergott, Nancy J Newman, et al.
Human Mutation|May 28, 2014
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intoleranceValeria Carossa, Anna Ghelli, Concetta Valentina Tropeano, et al.
Scientific Reports|March 18, 2020
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram SyndromeChiara La Morgia, Alessandra Maresca, Giulia Amore, et al.
Scientific Reports|June 25, 2020
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram SyndromeChiara La Morgia, Alessandra Maresca, Giulia Amore, et al.
Plos Genetics|February 15, 2018
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathyLeonardo Caporali, Luisa Iommarini, Chiara La Morgia, et al.
American Journal of Ophthalmology|December 21, 2022
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic InsightsPiero Barboni, Chiara La Morgia, Maria Lucia Cascavilla, et al.
Investigative Ophthalmology & Visual Science|December 23, 2008
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathyCarolina do V F Ramos, Costantino Bellusci, Giacomo Savini, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 26, 2021
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy StudiesMark L Moster, Robert C Sergott, Nancy J Newman, et al.
Human Mutation|May 28, 2014
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intoleranceValeria Carossa, Anna Ghelli, Concetta Valentina Tropeano, et al.
Scientific Reports|March 18, 2020
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram SyndromeChiara La Morgia, Alessandra Maresca, Giulia Amore, et al.
Scientific Reports|June 25, 2020
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram SyndromeChiara La Morgia, Alessandra Maresca, Giulia Amore, et al.
Plos Genetics|February 15, 2018
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathyLeonardo Caporali, Luisa Iommarini, Chiara La Morgia, et al.
American Journal of Ophthalmology|December 21, 2022
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic InsightsPiero Barboni, Chiara La Morgia, Maria Lucia Cascavilla, et al.
Investigative Ophthalmology & Visual Science|December 23, 2008
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathyCarolina do V F Ramos, Costantino Bellusci, Giacomo Savini, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 9