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Alessandra Torraco

Showing results (41-50 of 48) with videos related to

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Cell Death & Disease|October 7, 2022
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca<sup>2+</sup>-microdomains by tuning PMCA3 activityFrancesca Vallese, Lorenzo Maso, Flavia Giamogante, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Pageof 5

Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Cell Death & Disease|October 7, 2022
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca<sup>2+</sup>-microdomains by tuning PMCA3 activityFrancesca Vallese, Lorenzo Maso, Flavia Giamogante, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
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