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Nanomedicine (London, England)|December 22, 2016
Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalanceIlaria Pezzini, Attilio Marino, Serena Del Turco, et al.
Clinical Genetics|November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotypeChiara Ticci, Claudia Nesti, Anna Rubegni, et al.
Italian Journal of Pediatrics|October 17, 2022
Long term follow-up in two siblings with Sengers syndrome: Case reportChiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, et al.
American Journal of Medical Genetics. Part A|October 15, 2019
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expressionFilomena Napolitano, Chiara Terracciano, Giorgia Bruno, et al.
Human Molecular Genetics|January 27, 2024
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblastsPaola Zanfardino, Alessandro Amati, Stefano Doccini, et al.
Neuropediatrics|May 12, 2020
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic VariantThea Giacomini, Alessandra Gamucci, Livia Pisciotta, et al.
Neuroscience Letters|August 19, 2008
Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotypeMichelangelo Mancuso, Lorenzo Kiferle, Lucia Petrozzi, et al.
Clinical Genetics|March 6, 2025
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical PhenotypesCamilla Meossi, Alessandro De Falco, Marco Marchi, et al.
Frontiers in Neurology|September 15, 2018
Reversible Valproate-Induced Subacute Encephalopathy Associated With a Giovanna De Michele, Pierpaolo Sorrentino, Claudia Nesti, et al.
Biochemical and Biophysical Research Communications|February 15, 2015
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutationGiacomo Brisca, Chiara Fiorillo, Claudia Nesti, et al.
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