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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: quinzii cm. Neurol Genet. 2023 Mar 14;9(2):e200058. doi: 10.1212/NXG.0000000000200058. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090936 Free PMC article.
Coenzyme Q and mitochondrial disease.
Quinzii CM, Hirano M. Quinzii CM, et al. Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Dev Disabil Res Rev. 2010. PMID: 20818733 Free PMC article. Review.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Among authors: quinzii cm. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.
Emerging therapies for mitochondrial diseases.
Hirano M, Emmanuele V, Quinzii CM. Hirano M, et al. Essays Biochem. 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 29980632 Free PMC article. Review.
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.
Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A. Monzio Compagnoni G, et al. Among authors: quinzii cm. Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18. Stem Cell Reports. 2018. PMID: 30344007 Free PMC article.
84 results