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Valerio Carelli

Showing results (121-130 of 371) with videos related to

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Frontiers in Neurology|April 12, 2021
Case Report: A Novel Mutation in the Mitochondrial <i>MT-ND5</i> Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)Martin Engvall, Aki Kawasaki, Valerio Carelli, et al.
FEBS Letters|July 7, 2007
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Maria Lucia Valentino, Ramon Martí, Saba Tadesse, et al.
Mitochondrion|July 4, 2006
Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcriptsGino Cortopassi, Steven Danielson, Mansour Alemi, et al.
Biochimica Et Biophysica Acta|June 15, 2007
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993Alessandra Baracca, Gianluca Sgarbi, Marina Mattiazzi, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 21, 2005
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damageCeline Perier, Kim Tieu, Christelle Guégan, et al.
Journal of Neurology|September 21, 2013
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiencyRocco Liguori, Maria Pia Giannoccaro, Elena Pasini, et al.
International Journal of Biological Macromolecules|June 13, 2024
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex ILaura Rigobello, Francesca Lugli, Leonardo Caporali, et al.
Survey of Ophthalmology|October 17, 2024
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathyNancy J Newman, Valérie Biousse, Patrick Yu-Wai-Man, et al.
Neurobiology of Disease|February 28, 2018
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseasesDaniela Strobbe, Leonardo Caporali, Luisa Iommarini, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|March 17, 2015
Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathyLucia Ziccardi, Vincenzo Parisi, Daniela Giannini, et al.
Pageof 38

Showing results (121-130 of 371) with videos related to

Sort By:
Pageof 38
Frontiers in Neurology|April 12, 2021
Case Report: A Novel Mutation in the Mitochondrial <i>MT-ND5</i> Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)Martin Engvall, Aki Kawasaki, Valerio Carelli, et al.
FEBS Letters|July 7, 2007
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Maria Lucia Valentino, Ramon Martí, Saba Tadesse, et al.
Mitochondrion|July 4, 2006
Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcriptsGino Cortopassi, Steven Danielson, Mansour Alemi, et al.
Biochimica Et Biophysica Acta|June 15, 2007
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993Alessandra Baracca, Gianluca Sgarbi, Marina Mattiazzi, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 21, 2005
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damageCeline Perier, Kim Tieu, Christelle Guégan, et al.
Journal of Neurology|September 21, 2013
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiencyRocco Liguori, Maria Pia Giannoccaro, Elena Pasini, et al.
International Journal of Biological Macromolecules|June 13, 2024
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex ILaura Rigobello, Francesca Lugli, Leonardo Caporali, et al.
Survey of Ophthalmology|October 17, 2024
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathyNancy J Newman, Valérie Biousse, Patrick Yu-Wai-Man, et al.
Neurobiology of Disease|February 28, 2018
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseasesDaniela Strobbe, Leonardo Caporali, Luisa Iommarini, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|March 17, 2015
Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathyLucia Ziccardi, Vincenzo Parisi, Daniela Giannini, et al.
Pageof 38