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Massimo Zeviani

Showing results (181-190 of 289) with videos related to

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Nature Genetics|May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurology|September 13, 2013
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseAndoni Echaniz-Laguna, Daniele Ghezzi, Maïté Chassagne, et al.
Mitochondrion|August 20, 2025
The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial diseaseLuisa Zupin, Valeria Capaci, Maria Teresa Bonati, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
Brain : a Journal of Neurology|February 27, 2016
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal diseaseCarlo Dionisi-Vici, Daria Diodato, Giuliano Torre, et al.
Journal of Medical Genetics|October 29, 2017
A novel de novo dominant mutation in <i>ISCU</i> associated with mitochondrial myopathyAndrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, et al.
Cell Metabolism|September 10, 2014
A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial functionDongryeol Ryu, Young Suk Jo, Giuseppe Lo Sasso, et al.
Cell Reports|April 21, 2021
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediateLuigi D'Angelo, Elisa Astro, Monica De Luise, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
EMBO Molecular Medicine|March 20, 2019
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7Karthik Mohanraj, Michal Wasilewski, Cristiane Benincá, et al.
Pageof 29

Showing results (181-190 of 289) with videos related to

Sort By:
Pageof 29
Nature Genetics|May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurology|September 13, 2013
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseAndoni Echaniz-Laguna, Daniele Ghezzi, Maïté Chassagne, et al.
Mitochondrion|August 20, 2025
The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial diseaseLuisa Zupin, Valeria Capaci, Maria Teresa Bonati, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
Brain : a Journal of Neurology|February 27, 2016
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal diseaseCarlo Dionisi-Vici, Daria Diodato, Giuliano Torre, et al.
Journal of Medical Genetics|October 29, 2017
A novel de novo dominant mutation in <i>ISCU</i> associated with mitochondrial myopathyAndrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, et al.
Cell Metabolism|September 10, 2014
A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial functionDongryeol Ryu, Young Suk Jo, Giuseppe Lo Sasso, et al.
Cell Reports|April 21, 2021
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediateLuigi D'Angelo, Elisa Astro, Monica De Luise, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
EMBO Molecular Medicine|March 20, 2019
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7Karthik Mohanraj, Michal Wasilewski, Cristiane Benincá, et al.
Pageof 29