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European Journal of Medical Genetics|April 6, 2018
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?Federica Invernizzi, Giovanna Zorzi, Andrea Legati, 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.Advanced Healthcare Materials|February 4, 2022
Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered PlatformCathleen Hagemann, Carmen Moreno Gonzalez, Ludovica Guetta, et al.JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.Orphanet Journal of Rare Diseases|May 16, 2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studiesDaniele Sala, Silvia Marchet, Lorenzo Nanetti, 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.Stem Cell Research|January 12, 2021
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndromeCamille Peron, Roberta Mauceri, Angelo Iannielli, et al.Journal of Neuropathology and Experimental Neurology|March 11, 2015
Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathyIsidre Ferrer, Andrea Legati, J Carlos García-Monco, et al.Metabolic Brain Disease|January 24, 2018
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutationsIrene Toldo, Margherita Nosadini, Chiara Boscardin, et al.Pageof 6