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Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.
International Journal of Molecular Sciences|October 24, 2020
Fasting Drives Nrf2-Related Antioxidant Response in Skeletal MuscleDaniele Lettieri-Barbato, Giuseppina Minopoli, Rocco Caggiano, 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.
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.
European Journal of Human Genetics : EJHG|November 23, 2024
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportGiulia Ferrera, Kevork Derderian, Rossella Izzo, 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.
Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.
Pharmacological Research|April 15, 2026
PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunctionChiara Cavestro, Floriana Cascone, Andrea Legati, et al.
Mitochondrion|March 31, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotypePiervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, et al.
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