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2010 1
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Page 1
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: catania a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M. Brunetti D, et al. Among authors: catania a. Biomedicines. 2021 Jul 17;9(7):833. doi: 10.3390/biomedicines9070833. Biomedicines. 2021. PMID: 34356897 Free PMC article. Review.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: catania a. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
Insight into the role of microRNAs in brain tumors (review).
Catania A, Maira F, Skarmoutsou E, D'Amico F, Abounader R, Mazzarino MC. Catania A, et al. Int J Oncol. 2012 Mar;40(3):605-24. doi: 10.3892/ijo.2011.1305. Epub 2011 Dec 15. Int J Oncol. 2012. PMID: 22179098 Review.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Peverelli L, et al. Among authors: catania a. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. Vacchiano V, et al. Among authors: catania a. Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. Epub 2021 Aug 11. Mitochondrion. 2021. PMID: 34390870
17 results