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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.Scientific Reports|November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside contentRodolfo Tonin, Anna Caciotti, Elena Procopio, et al.Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 15, 2018
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disordersAmbra Rizzo, Enrico Alfei, Federica Zibordi, et al.Neurobiology of Disease|April 29, 2020
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assemblyMichela Di Nottia, Maria Marchese, Daniela Verrigni, 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.Journal of Clinical Immunology|September 28, 2023
Antibody Deficiency in Patients with Biallelic KARS1 MutationsFrancesco Saettini, Fabiola Guerra, Grazia Fazio, et al.Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.Neurogenetics|January 5, 2020
Mitochondrial epilepsy: a cross-sectional nationwide Italian surveyChiara Ticci, Federico Sicca, Anna Ardissone, et al.Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.Pageof 7