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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.Molecular Genetics and Metabolism|September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|November 20, 2013
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureEmanuela Bottani, Carla Giordano, Gabriele Civiletto, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 29, 2020
Awareness of rare and genetic neurological diseases among italian neurologist. A national surveyMichelangelo Mancuso, Massimiliano Filosto, Costanza Lamperti, et al.Molecular Genetics and Metabolism Reports|January 11, 2017
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 geneAlice Zanolini, Ana Potic, Franco Carrara, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 19, 2015
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patientsCostanza Lamperti, Federica Invernizzi, Roberta Solazzi, et al.Journal of Neurology|January 30, 2013
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?Ettore Salsano, Laura Farina, Costanza Lamperti, et al.Cell Metabolism|May 13, 2014
NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial diseaseRaffaele Cerutti, Eija Pirinen, Costanza Lamperti, 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.Pageof 36