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Molecular Therapy : the Journal of the American Society of Gene Therapy|January 23, 2014
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIEJavier Torres-Torronteras, Carlo Viscomi, Raquel Cabrera-Pérez, et al.
Molecular Cell|July 5, 2017
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex IIIEmanuela Bottani, Raffaele Cerutti, Michael E Harbour, et al.
Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 3, 2014
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunctionDaniele Ghezzi, Carlotta Canavese, Gordana Kovacevic, 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.
EMBO Reports|June 14, 2022
CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7BMichele Brischigliaro, Alfredo Cabrera-Orefice, Mattia Sturlese, 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.
The Biochemical Journal|June 10, 2014
Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responsesDaniel A Pulliam, Sathyaseelan S Deepa, Yuhong Liu, et al.
Human Mutation|March 3, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRoberta R Lemos, Eliana M Ramos, Andrea Legati, et al.
Life Sciences|October 23, 2025
Vertebral bone marrow clot breakthrough: a powerful osteogenic and antibacterial scaffold for spinal fusion surgeryFrancesca Salamanna, Giuseppe Tedesco, Daniele Ghezzi, et al.
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