Showing results (1-10 of 251) with videos related to
Sort By:
Pageof 26
Methods in Molecular Biology (Clifton, N.J.)|February 22, 2023
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation SequencingAndrea Legati, Daniele Ghezzi, Carlo ViscomiHuman Molecular Genetics|January 7, 2009
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequenceDaniele Ghezzi, Carlo Viscomi, Alessandra Ferlini, et al.The Journal of Molecular Diagnostics : JMD|March 30, 2021
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNAAndrea Legati, Nadia Zanetti, Alessia Nasca, 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.Biomedicines|August 6, 2021
Role of PITRM1 in Mitochondrial Dysfunction and NeurodegenerationDario Brunetti, Alessia Catania, Carlo Viscomi, et al.Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, 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|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, 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.Pageof 26