Silvia Marchet Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Biography Publications Institution JoVE Articles Silvia Marchet has not added a biography. If you are Silvia Marchet and would like to personalize this page please email our Author Liaison for assistance. Publications Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases Journal of Clinical Medicine. May, 2021 | Pubmed ID: 34065803 Response To: "Heterogeneous Phenotypic Expression of C1QBP Variants is Attributable to Variable Heteroplasmy of Secondary MtDNA Deletions and MtDNA Copy Number" Human Mutation. 11, 2020 | Pubmed ID: 33113594 Homozygous Mutations in C1QBP As Cause of Progressive External Ophthalmoplegia (PEO) and Mitochondrial Myopathy with Multiple MtDNA Deletions Human Mutation. 10, 2020 | Pubmed ID: 32652806 Alteration of Mitochondrial Membrane Inner Potential in Three Italian Patients with Megaconial Congenital Muscular Dystrophy Carrying New Mutations in CHKB Gene Mitochondrion. 07, 2019 | Pubmed ID: 30986505 Clinical-genetic Features and Peculiar Muscle Histopathology in Infantile DNM1L-related Mitochondrial Epileptic Encephalopathy Human Mutation. 05, 2019 | Pubmed ID: 30801875 Homozygous Variant in OTX2 and Possible Genetic Modifiers Identified in a Patient with Combined Pituitary Hormone Deficiency, Ocular Involvement, Myopathy, Ataxia, and Mitochondrial Impairment American Journal of Medical Genetics. Part A. 05, 2019 | Pubmed ID: 30773800 Pure Myopathy with Enlarged Mitochondria Associated to a New Mutation in Gene Molecular Genetics and Metabolism Reports. Mar, 2017 | Pubmed ID: 28070494 An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model Andrea Cavaliere*1, Silvia Marchet*1, Ivano Di Meo1, Valeria Tiranti1 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta JoVE 63452 Genetics
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model Andrea Cavaliere*1, Silvia Marchet*1, Ivano Di Meo1, Valeria Tiranti1 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta JoVE 63452 Genetics
