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Page 1
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: maresca 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.
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody M, Maestrini E. Bacchelli E, et al. Among authors: maresca a. Res Sq [Preprint]. 2023 Oct 28:rs.3.rs-3468592. doi: 10.21203/rs.3.rs-3468592/v1. Res Sq. 2023. Update in: NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1 PMID: 37961520 Free PMC article. Updated. Preprint.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: maresca a. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 Free PMC article.
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Caporali L, et al. Among authors: maresca a. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 Free PMC article.
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto MC, Sandoni L, Baravelli I, Cameli C, Rochat MJ, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody MC, Maestrini E, Bacchelli E. Viggiano M, et al. Among authors: maresca a. NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1. NPJ Genom Med. 2024. PMID: 38519481 Free PMC article.
Proceedings from an international consensus meeting on ablation in urogenital diseases.
Iezzi R, Contegiacomo A, De Filippis A, Gunn AJ, Atwell T, Mcclure T, Jing Z, Posa A, Scrofani AR, Maresca A, Madoff DC, Goldberg SN, Kelekis A, Filippiadis D, Sala E, Ahmed M. Iezzi R, et al. Among authors: maresca a. Insights Imaging. 2024 Nov 8;15(1):267. doi: 10.1186/s13244-024-01841-2. Insights Imaging. 2024. PMID: 39514046 Free PMC article.
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.
Diquigiovanni C, Rizzardi N, Cataldi-Stagetti E, Gozzellino L, Isidori F, Valenti F, Orsini A, Astolfi A, Giangregorio T, Pironi L, Boschetti E, Arrigo S, Maresca A, Magnoni P, Costanzini A, Carelli V, Taniguchi-Ikeda M, Fato R, Bergamini C, De Giorgio R, Bonora E. Diquigiovanni C, et al. Among authors: maresca a. Gastroenterology. 2025 Jan;168(1):68-83. doi: 10.1053/j.gastro.2024.08.009. Epub 2024 Aug 21. Gastroenterology. 2025. PMID: 39173721
Hypoalbuminaemia and heart failure: A practical review of current evidence.
Biancucci M, Barbiero R, Pennella B, Cannatà A, Ageno W, Tangianu F, Maresca AM, Dentali F, Bonaventura A. Biancucci M, et al. Among authors: maresca am. Eur J Heart Fail. 2024 Jul 4. doi: 10.1002/ejhf.3363. Online ahead of print. Eur J Heart Fail. 2024. PMID: 38962822 Review.
271 results