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Massimo Zeviani

Showing results (211-220 of 289) with videos related to

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Journal of Neurology|March 22, 2015
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutationsMaria A Rocca, Stefania Bianchi-Marzoli, Roberta Messina, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 31, 2017
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translationMichela Di Nottia, Arianna Montanari, Daniela Verrigni, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Archives of Neurology|September 15, 2010
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutationsRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Frontiers in Pharmacology|August 14, 2023
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from <i>PITRM1</i>-deficient patientsAlessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, et al.
Cell Metabolism|June 4, 2015
The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damageTatiana Varanita, Maria Eugenia Soriano, Vanina Romanello, et al.
The FEBS Journal|October 13, 2005
Human mitochondrial complex I assembly is mediated by NDUFAF1Rutger O Vogel, Rolf J R J Janssen, Cristina Ugalde, et al.
European Journal of Human Genetics : EJHG|August 5, 2004
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairmentHoward T Jacobs, Timothy P Hutchin, Timo Käppi, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Pageof 29

Showing results (211-220 of 289) with videos related to

Sort By:
Pageof 29
Journal of Neurology|March 22, 2015
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutationsMaria A Rocca, Stefania Bianchi-Marzoli, Roberta Messina, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 31, 2017
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translationMichela Di Nottia, Arianna Montanari, Daniela Verrigni, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Archives of Neurology|September 15, 2010
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutationsRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Frontiers in Pharmacology|August 14, 2023
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from <i>PITRM1</i>-deficient patientsAlessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, et al.
Cell Metabolism|June 4, 2015
The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damageTatiana Varanita, Maria Eugenia Soriano, Vanina Romanello, et al.
The FEBS Journal|October 13, 2005
Human mitochondrial complex I assembly is mediated by NDUFAF1Rutger O Vogel, Rolf J R J Janssen, Cristina Ugalde, et al.
European Journal of Human Genetics : EJHG|August 5, 2004
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairmentHoward T Jacobs, Timothy P Hutchin, Timo Käppi, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Pageof 29