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288 results

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Page 1
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
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.
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.
New findings about neuropathological outcomes in the PKU mouse throughout lifespan.
Bregalda A, Carducci C, Pascucci T, Ambrogini P, Sartini S, Pierigè F, di Carlo E, Fiori E, Ielpo D, Pagliarini M, Leuzzi V, Magnani M, Rossi L. Bregalda A, et al. Among authors: leuzzi v. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108543. doi: 10.1016/j.ymgme.2024.108543. Epub 2024 Jul 19. Mol Genet Metab. 2024. PMID: 39047302
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Among authors: leuzzi v. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.
Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Domínguez Carral J, et al. Among authors: leuzzi v. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. eCollection 2024. Front Neurol. 2024. PMID: 38903163 Free PMC article.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V. Galosi S, et al. Among authors: leuzzi v. Mov Disord. 2024 Jul;39(7):1225-1231. doi: 10.1002/mds.29795. Epub 2024 Apr 30. Mov Disord. 2024. PMID: 38685873
288 results