Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Pharmaceutics|June 24, 2022
Gene Therapy for Mitochondrial Diseases: Current Status and Future PerspectiveAlessia Di Donfrancesco, Giulia Massaro, Ivano Di Meo, et al.
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.
Frontiers in Cellular Neuroscience|July 5, 2022
PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron AccumulationMaddalena Ripamonti, Paolo Santambrogio, Gabriella Racchetti, et al.
Frontiers in Neurology|June 25, 2021
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future PerspectivesCamille Peron, Alessandra Maresca, Andrea Cavaliere, et al.
Frontiers in Cellular Neuroscience|September 20, 2024
CoA synthase plays a critical role in neurodevelopment and neurodegenerationChiara Cavestro, Marco D'Amato, Maria Nicol Colombo, et al.
Molecular Genetics and Metabolism|May 23, 2026
Clinical and biochemical footprints of inherited cofactor disordersIvano Di Meo, Carlos R Ferreira, Thomas Opladen, et al.
Glia|March 19, 2025
Fibroblasts and hiPS-Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent PhenotypeAnna Cozzi, Paolo Santambrogio, Andrea Stefano Moro, et al.
Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.
Cell Death & Disease|February 26, 2022
Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotypePaolo Santambrogio, Maddalena Ripamonti, Anna Cozzi, et al.
Orphanet Journal of Rare Diseases|May 20, 2021
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patientGiorgia Olivieri, Diego Martinelli, Daniela Longo, et al.
Pageof 5