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 माइटोकॉन्ड्रियल डिसफंक्शन का अध्ययन करने के लिए एक इन विट्रो दृष्टिकोण: एक साइब्रिड मॉडल 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
माइटोकॉन्ड्रियल डिसफंक्शन का अध्ययन करने के लिए एक इन विट्रो दृष्टिकोण: एक साइब्रिड मॉडल 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