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Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E, Pesini A, Biella F, Sobreira CFR, Emmanuele V, Brescia G, Lopez LC, Tadesse S, Hirano M, Comi GP, Quinzii CM, Di Fonzo A. Monfrini E, et al. Among authors: pesini a. Neurol Genet. 2023 Mar 14;9(2):e200058. doi: 10.1212/NXG.0000000000200058. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090936 Free PMC article.
Brain pyrimidine nucleotide synthesis and Alzheimer disease.
Pesini A, Iglesias E, Bayona-Bafaluy MP, Garrido-Pérez N, Meade P, Gaudó P, Jiménez-Salvador I, Andrés-Benito P, Montoya J, Ferrer I, Pesini P, Ruiz-Pesini E. Pesini A, et al. Aging (Albany NY). 2019 Sep 27;11(19):8433-8462. doi: 10.18632/aging.102328. Epub 2019 Sep 27. Aging (Albany NY). 2019. PMID: 31560653 Free PMC article.