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Alessandra Torraco

Showing results (31-40 of 48) with videos related to

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Neurogenetics|January 5, 2011
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1Mariana Ferreira, Alessandra Torraco, Teresa Rizza, et al.
Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.
Nature Metabolism|May 8, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseAndrew Y Sung, Rachel M Guerra, Laura H Steenberge, et al.
Human Molecular Genetics|May 17, 2018
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteinsAlessandra Torraco, Oliver Stehling, Claudia Stümpfig, et al.
Mitochondrion|September 25, 2014
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, et al.
International Journal of Molecular Sciences|July 27, 2024
De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Neurogenetics|January 5, 2011
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1Mariana Ferreira, Alessandra Torraco, Teresa Rizza, et al.
Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.
Nature Metabolism|May 8, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseAndrew Y Sung, Rachel M Guerra, Laura H Steenberge, et al.
Human Molecular Genetics|May 17, 2018
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteinsAlessandra Torraco, Oliver Stehling, Claudia Stümpfig, et al.
Mitochondrion|September 25, 2014
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, et al.
International Journal of Molecular Sciences|July 27, 2024
De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Pageof 5