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Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase.
Loffredo L, Soresina A, Cinicola BL, Capponi M, Salvatori F, Bartimoccia S, Picchio V, Forte M, Caputi C, Poscia R, Leuzzi V, Spalice A, Pignatelli P, Badolato R, Duse M, Violi F, Carnevale R, Zicari AM; AT study group. Loffredo L, et al. Among authors: leuzzi v. Redox Biol. 2024 Nov;77:103347. doi: 10.1016/j.redox.2024.103347. Epub 2024 Sep 12. Redox Biol. 2024. PMID: 39326070 Free PMC article.
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: leuzzi v. Eur J Hum Genet. 2024 Oct 11. doi: 10.1038/s41431-024-01703-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39394465
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.
Zielen S, Crawford T, Benatti L, Magnani M, Kieslich M, Ryan M, Meyts I, Gulati S, Borgohain R, Yadav R, Pal P, Hegde A, Kumar S, Venkateswar A, Udani V, Vinayan KP, Nissenkorn A, Fazzi E, Leuzzi V, Stray-Pedersen A, Pietrucha B, Pascual SI, Gouider R, Koenig MK, Wu S, Perlman S, Thye D, Janhofer G, Horn B, Whitehouse W, Lederman H. Zielen S, et al. Among authors: leuzzi v. Lancet Neurol. 2024 Sep;23(9):871-882. doi: 10.1016/S1474-4422(24)00220-5. Lancet Neurol. 2024. PMID: 39152028 Clinical Trial.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Galosi S, Novelli M, Di Rocco M, Flex E, Messina E, Pollini L, Parrini E, Pisani F, Guerrini R, Leuzzi V, Martinelli S. Galosi S, et al. Among authors: leuzzi v. Mov Disord. 2023 Dec;38(12):2313-2314. doi: 10.1002/mds.29585. Epub 2023 Aug 26. Mov Disord. 2023. PMID: 37632268 No abstract available.
288 results