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International Journal of Molecular Sciences|July 27, 2024
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.EMBO Molecular Medicine|September 24, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex IAhmad Alahmad, Alessia Nasca, Juliana Heidler, et al.Annals of Clinical and Translational Neurology|August 30, 2023
Expanding the spectrum of neonatal-onset AIFM1-associated disordersAlberto A Zambon, Daniele Ghezzi, Cristina Baldoli, et al.Annals of Clinical and Translational Neurology|May 15, 2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseasesChiara Cavestro, Francesca Morra, Andrea Legati, et al.Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.EMBO Molecular Medicine|January 14, 2014
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsElena Perli, Carla Giordano, Annalinda Pisano, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.Orphanet Journal of Rare Diseases|May 13, 2017
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsAlessia Nasca, Teresa Rizza, Mara Doimo, et al.Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.Pageof 4