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Massimo Zeviani

Showing results (161-170 of 289) with videos related to

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Human Molecular Genetics|September 13, 2005
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathyLuigi Palmieri, Simona Alberio, Isabella Pisano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 23, 2014
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIEJavier Torres-Torronteras, Carlo Viscomi, Raquel Cabrera-Pérez, et al.
Molecular Genetics and Metabolism|September 14, 2016
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh geneLaura Bianciardi, Valentina Imperatore, Erika Fernandez-Vizarra, et al.
Archives of Neurology|August 13, 2008
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola, René Santer, Orhan H Akman, et al.
Saudi Medical Journal|March 15, 2006
Stroke due to mitochondrial disorders in Saudi childrenMustafa A Salih, Abdel-Galil M Abdel-Gader, Jihad N Zahraa, et al.
Annals of Neurology|September 5, 2002
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaEleonora Lamantea, Valeria Tiranti, Andreina Bordoni, et al.
Brain : a Journal of Neurology|December 6, 2008
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy, Ettore Salsano, Charles K Abrams, et al.
Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Neurology|June 11, 2003
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndromeMarco Crimi, Sara Galbiati, Isabella Moroni, et al.
Molecular Cell|July 5, 2017
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex IIIEmanuela Bottani, Raffaele Cerutti, Michael E Harbour, et al.
Pageof 29

Showing results (161-170 of 289) with videos related to

Sort By:
Pageof 29
Human Molecular Genetics|September 13, 2005
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathyLuigi Palmieri, Simona Alberio, Isabella Pisano, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 23, 2014
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIEJavier Torres-Torronteras, Carlo Viscomi, Raquel Cabrera-Pérez, et al.
Molecular Genetics and Metabolism|September 14, 2016
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh geneLaura Bianciardi, Valentina Imperatore, Erika Fernandez-Vizarra, et al.
Archives of Neurology|August 13, 2008
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola, René Santer, Orhan H Akman, et al.
Saudi Medical Journal|March 15, 2006
Stroke due to mitochondrial disorders in Saudi childrenMustafa A Salih, Abdel-Galil M Abdel-Gader, Jihad N Zahraa, et al.
Annals of Neurology|September 5, 2002
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaEleonora Lamantea, Valeria Tiranti, Andreina Bordoni, et al.
Brain : a Journal of Neurology|December 6, 2008
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy, Ettore Salsano, Charles K Abrams, et al.
Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Neurology|June 11, 2003
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndromeMarco Crimi, Sara Galbiati, Isabella Moroni, et al.
Molecular Cell|July 5, 2017
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex IIIEmanuela Bottani, Raffaele Cerutti, Michael E Harbour, et al.
Pageof 29