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Valerio Carelli

Showing results (131-140 of 371) with videos related to

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The FEBS Journal|February 22, 2005
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathyMaura Floreani, Eleonora Napoli, Andrea Martinuzzi, et al.
Molecular Vision|January 5, 2011
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathyGavin Hudson, Patrick Yu-Wai-Man, Phillip G Griffiths, et al.
Ophthalmology|December 25, 2009
Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomographyPiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
BMC Neurology|May 23, 2024
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani familiesMuhammad Yasin, Laura Licchetta, Niamat Khan, et al.
Frontiers in Genetics|December 28, 2023
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case reportVeria Vacchiano, Flavia Palombo, Danara Ormanbekova, et al.
Stem Cell Research|August 11, 2020
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)Camille Peron, Roberta Mauceri, Tommaso Cabassi, et al.
Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|February 21, 2024
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New ParadigmPiero Barboni, Marco Battista, Luigi Brotto, et al.
European Journal of Neurology|November 13, 2025
Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral SclerosisVeria Vacchiano, Cosmanna Ragucci, Giovanni Rizzo, et al.
Frontiers in Genetics|August 13, 2025
Case Report: Novel <i>ATP13A2</i> pathogenic variants associated with early-onset parkinsonism and a mini-reviewLeonardo Affronte, Antonella Pini, Claudia Pizzoli, et al.
Pageof 38

Showing results (131-140 of 371) with videos related to

Sort By:
Pageof 38
The FEBS Journal|February 22, 2005
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathyMaura Floreani, Eleonora Napoli, Andrea Martinuzzi, et al.
Molecular Vision|January 5, 2011
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathyGavin Hudson, Patrick Yu-Wai-Man, Phillip G Griffiths, et al.
Ophthalmology|December 25, 2009
Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomographyPiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
BMC Neurology|May 23, 2024
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani familiesMuhammad Yasin, Laura Licchetta, Niamat Khan, et al.
Frontiers in Genetics|December 28, 2023
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case reportVeria Vacchiano, Flavia Palombo, Danara Ormanbekova, et al.
Stem Cell Research|August 11, 2020
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON)Camille Peron, Roberta Mauceri, Tommaso Cabassi, et al.
Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|February 21, 2024
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New ParadigmPiero Barboni, Marco Battista, Luigi Brotto, et al.
European Journal of Neurology|November 13, 2025
Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral SclerosisVeria Vacchiano, Cosmanna Ragucci, Giovanni Rizzo, et al.
Frontiers in Genetics|August 13, 2025
Case Report: Novel <i>ATP13A2</i> pathogenic variants associated with early-onset parkinsonism and a mini-reviewLeonardo Affronte, Antonella Pini, Claudia Pizzoli, et al.
Pageof 38