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Massimo Zeviani

Showing results (91-100 of 289) with videos related to

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American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
Journal of the Neurological Sciences|October 15, 2010
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutationEttore Salsano, Anna Rita Giovagnoli, Lucia Morandi, et al.
Nature Medicine|July 27, 2010
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathyCarlo Viscomi, Alberto B Burlina, Imad Dweikat, et al.
Human Molecular Genetics|January 1, 2010
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona, René Massimiliano Marsano, Paola Arzuffi, et al.
Mitochondrion|March 15, 2011
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHONGavin Hudson, Patrick Yu-Wai-Man, Philip G Griffiths, et al.
Human Molecular Genetics|May 8, 2007
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley, Susan Adams, Abdelhamid Slama, et al.
Human Mutation|September 10, 2013
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activityFederica Invernizzi, Marco Tigano, Cristina Dallabona, et al.
Proteomics|February 13, 2016
Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiencyNavid Sahebekhtiari, Michelle M Thomsen, Jens J Sloth, et al.
Metabolic Brain Disease|July 22, 2015
Severe early onset ethylmalonic encephalopathy with West syndromeLaura Papetti, Giacomo Garone, Livia Schettini, et al.
Journal of Child Neurology|March 23, 2006
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile caseSimona Orcesi, Ksenija Gorni, Cristiano Termine, et al.
Pageof 29

Showing results (91-100 of 289) with videos related to

Sort By:
Pageof 29
American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
Journal of the Neurological Sciences|October 15, 2010
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutationEttore Salsano, Anna Rita Giovagnoli, Lucia Morandi, et al.
Nature Medicine|July 27, 2010
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathyCarlo Viscomi, Alberto B Burlina, Imad Dweikat, et al.
Human Molecular Genetics|January 1, 2010
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona, René Massimiliano Marsano, Paola Arzuffi, et al.
Mitochondrion|March 15, 2011
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHONGavin Hudson, Patrick Yu-Wai-Man, Philip G Griffiths, et al.
Human Molecular Genetics|May 8, 2007
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley, Susan Adams, Abdelhamid Slama, et al.
Human Mutation|September 10, 2013
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activityFederica Invernizzi, Marco Tigano, Cristina Dallabona, et al.
Proteomics|February 13, 2016
Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiencyNavid Sahebekhtiari, Michelle M Thomsen, Jens J Sloth, et al.
Metabolic Brain Disease|July 22, 2015
Severe early onset ethylmalonic encephalopathy with West syndromeLaura Papetti, Giacomo Garone, Livia Schettini, et al.
Journal of Child Neurology|March 23, 2006
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile caseSimona Orcesi, Ksenija Gorni, Cristiano Termine, et al.
Pageof 29