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Daniele Ghezzi

Showing results (21-30 of 143) with videos related to

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Journal of Human Genetics|February 22, 2021
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathyAlessia Nasca, Ivano Di Meo, Yakov Fellig, et al.
Human Molecular Genetics|September 4, 2024
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseasesSonia Figuccia, Rossella Izzo, Andrea Legati, et al.
Journal of Neurology|February 25, 2005
High frequency stimulation of the subthalamic nucleus is efficacious in Parkin diseaseLuigi M A Romito, Maria F Contarino, Daniele Ghezzi, et al.
Biomedicines|August 6, 2021
Role of PITRM1 in Mitochondrial Dysfunction and NeurodegenerationDario Brunetti, Alessia Catania, Carlo Viscomi, et al.
Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.
European Journal of Medical Genetics|April 6, 2018
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?Federica Invernizzi, Giovanna Zorzi, Andrea Legati, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Pageof 15

Showing results (21-30 of 143) with videos related to

Sort By:
Pageof 15
Journal of Human Genetics|February 22, 2021
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathyAlessia Nasca, Ivano Di Meo, Yakov Fellig, et al.
Human Molecular Genetics|September 4, 2024
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseasesSonia Figuccia, Rossella Izzo, Andrea Legati, et al.
Journal of Neurology|February 25, 2005
High frequency stimulation of the subthalamic nucleus is efficacious in Parkin diseaseLuigi M A Romito, Maria F Contarino, Daniele Ghezzi, et al.
Biomedicines|August 6, 2021
Role of PITRM1 in Mitochondrial Dysfunction and NeurodegenerationDario Brunetti, Alessia Catania, Carlo Viscomi, et al.
Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.
European Journal of Medical Genetics|April 6, 2018
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?Federica Invernizzi, Giovanna Zorzi, Andrea Legati, et al.
American Journal of Medical Genetics. Part A|February 19, 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairmentAlessia Catania, Andrea Legati, Lorenzo Peverelli, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Pageof 15