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Biochimica Et Biophysica Acta. Molecular Cell Research|September 12, 2024
WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)Barbara Garavaglia, Alessia Nasca, Stefania Mitola, et al.Molecular Genetics and Metabolism Reports|March 1, 2016
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetranceAnna Ardissone, Federica Invernizzi, Alessia Nasca, et al.The Journal of Molecular Diagnostics : JMD|March 30, 2021
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNAAndrea Legati, Nadia Zanetti, Alessia Nasca, 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.Human Molecular Genetics|September 4, 2024
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseasesSonia Figuccia, Rossella Izzo, Andrea Legati, et al.Frontiers in Genetics|July 17, 2023
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Nadia Zanetti, Alessia Nasca, et al.Neurology. Genetics|July 28, 2017
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, et al.Frontiers in Genetics|December 3, 2014
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesionsLaura Melchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, et al.Pageof 4