Showing results (11-20 of 251) with videos related to
Sort By:
Pageof 26
Biotech (Basel (Switzerland))|February 21, 2025
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNAMarco Barresi, Giulia Dal Santo, Rossella Izzo, et al.JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.Orphanet Journal of Rare Diseases|May 16, 2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studiesDaniele Sala, Silvia Marchet, Lorenzo Nanetti, et al.Biomolecules|September 27, 2025
A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic NeuropathyAlessia Nasca, Alessia Catania, Andrea Legati, et al.Biochemical Society Transactions|December 3, 2016
Toward a therapy for mitochondrial diseaseCarlo ViscomiMetabolic Brain Disease|January 24, 2018
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutationsIrene Toldo, Margherita Nosadini, Chiara Boscardin, 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.American Journal of Medical Genetics. Part A|August 24, 2016
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsyFederico Raviglione, Giorgio Conte, Daniele Ghezzi, et al.Handbook of Clinical Neurology|February 22, 2023
Experimental therapy for mitochondrial diseasesCarlo Viscomi, Massimo ZevianiPageof 26