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

Valerio Carelli

Showing results (281-290 of 332) with videos related to

Pageof 34
Sort By:
Brain : a Journal of Neurology|November 9, 2022
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathyNancy J Newman, Patrick Yu-Wai-Man, Prem S Subramanian, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, 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.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, 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.
Parkinsonism & Related Disorders|March 29, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson diseaseGiada Cuconato, Ilaria Palmieri, Marco Percetti, et al.
Geroscience|December 18, 2021
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian populationMaria Giulia Bacalini, Flavia Palombo, Paolo Garagnani, et al.
Human Molecular Genetics|January 28, 2020
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolismAlessandra Maresca, Valentina Del Dotto, Mariantonietta Capristo, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 34

Showing results (281-290 of 332) with videos related to

Sort By:
Pageof 34
Brain : a Journal of Neurology|November 9, 2022
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathyNancy J Newman, Patrick Yu-Wai-Man, Prem S Subramanian, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, 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.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, 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.
Parkinsonism & Related Disorders|March 29, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson diseaseGiada Cuconato, Ilaria Palmieri, Marco Percetti, et al.
Geroscience|December 18, 2021
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian populationMaria Giulia Bacalini, Flavia Palombo, Paolo Garagnani, et al.
Human Molecular Genetics|January 28, 2020
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolismAlessandra Maresca, Valentina Del Dotto, Mariantonietta Capristo, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 34