Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
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.
International Journal of Molecular Sciences|August 26, 2023
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) SubjectsMirko Baglivo, Alessia Nasca, Eleonora Lamantea, et al.
EMBO Molecular Medicine|April 16, 2015
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyLeonardo Bee, Alessia Nasca, Alice Zanolini, 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.
Neurogenetics|August 13, 2021
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activationChiara Cavestro, Celeste Panteghini, Chiara Reale, et al.
Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Cells|March 25, 2022
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA DeletionsAlessia Nasca, Andrea Legati, Megi Meneri, et al.
Neurology|August 24, 2014
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystoniaRoberto Cilia, Chiara Reale, Anna Castagna, et al.
American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Pageof 4