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Daniele Ghezzi

Showing results (1-10 of 153) with videos related to

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Advances in Experimental Medicine and Biology|June 26, 2012
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiologyDaniele Ghezzi, Massimo Zeviani
Essays in Biochemistry|July 22, 2018
Human diseases associated with defects in assembly of OXPHOS complexesDaniele Ghezzi, Massimo Zeviani
International Journal of Cell Biology|March 19, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and SyndromesDaria Diodato, Daniele Ghezzi, Valeria Tiranti
Methods in Molecular Biology (Clifton, N.J.)|February 22, 2023
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation SequencingAndrea Legati, Daniele Ghezzi, Carlo Viscomi
Seminars in Fetal & Neonatal Medicine|May 31, 2011
Infantile mitochondrial encephalopathyGraziella Uziel, Daniele Ghezzi, Massimo Zeviani
Human Mutation|October 28, 2020
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number"Costanza Lamperti, Silvia Marchet, Andrea Legati, et al.
Microbes and Environments|September 21, 2016
Diversity of Methane-Oxidizing Bacteria in Soils from "Hot Lands of Medolla" (Italy) Featured by Anomalous High-Temperatures and Biogenic CO<sub>2</sub> EmissionMartina Cappelletti, Daniele Ghezzi, Davide Zannoni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 27, 2019
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)Alessia Catania, Lorenzo Peverelli, Silvia Tabano, et al.
BMJ Case Reports|May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduriaGiulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.
Pageof 16

Showing results (1-10 of 153) with videos related to

Sort By:
Pageof 16
Advances in Experimental Medicine and Biology|June 26, 2012
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiologyDaniele Ghezzi, Massimo Zeviani
Essays in Biochemistry|July 22, 2018
Human diseases associated with defects in assembly of OXPHOS complexesDaniele Ghezzi, Massimo Zeviani
International Journal of Cell Biology|March 19, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and SyndromesDaria Diodato, Daniele Ghezzi, Valeria Tiranti
Methods in Molecular Biology (Clifton, N.J.)|February 22, 2023
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation SequencingAndrea Legati, Daniele Ghezzi, Carlo Viscomi
Seminars in Fetal & Neonatal Medicine|May 31, 2011
Infantile mitochondrial encephalopathyGraziella Uziel, Daniele Ghezzi, Massimo Zeviani
Human Mutation|October 28, 2020
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number"Costanza Lamperti, Silvia Marchet, Andrea Legati, et al.
Microbes and Environments|September 21, 2016
Diversity of Methane-Oxidizing Bacteria in Soils from "Hot Lands of Medolla" (Italy) Featured by Anomalous High-Temperatures and Biogenic CO<sub>2</sub> EmissionMartina Cappelletti, Daniele Ghezzi, Davide Zannoni, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 27, 2019
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)Alessia Catania, Lorenzo Peverelli, Silvia Tabano, et al.
BMJ Case Reports|May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduriaGiulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.
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