Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Massimo Zeviani

Showing results (231-240 of 289) with videos related to

Pageof 29
Sort By:
Cell Reports|August 22, 2019
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress InductionRoberto Costa, Roberta Peruzzo, Magdalena Bachmann, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2006
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta Marongiu, Daniele Ghezzi, Tamara Ialongo, et al.
Brain : a Journal of Neurology|April 12, 2012
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutationsMarjan E Steenweg, Daniele Ghezzi, Tobias Haack, et al.
American Journal of Human Genetics|March 15, 2006
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigreesValerio Carelli, Alessandro Achilli, Maria Lucia Valentino, et al.
Nature Genetics|April 4, 2006
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAntonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, et al.
EMBO Molecular Medicine|January 14, 2014
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsElena Perli, Carla Giordano, Annalinda Pisano, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
EMBO Molecular Medicine|December 25, 2015
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationDario Brunetti, Janniche Torsvik, Cristina Dallabona, et al.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Pageof 29

Showing results (231-240 of 289) with videos related to

Sort By:
Pageof 29
Cell Reports|August 22, 2019
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress InductionRoberto Costa, Roberta Peruzzo, Magdalena Bachmann, et al.
Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2006
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta Marongiu, Daniele Ghezzi, Tamara Ialongo, et al.
Brain : a Journal of Neurology|April 12, 2012
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutationsMarjan E Steenweg, Daniele Ghezzi, Tobias Haack, et al.
American Journal of Human Genetics|March 15, 2006
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigreesValerio Carelli, Alessandro Achilli, Maria Lucia Valentino, et al.
Nature Genetics|April 4, 2006
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAntonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, et al.
EMBO Molecular Medicine|January 14, 2014
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsElena Perli, Carla Giordano, Annalinda Pisano, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
EMBO Molecular Medicine|December 25, 2015
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationDario Brunetti, Janniche Torsvik, Cristina Dallabona, et al.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Pageof 29