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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Cesaroni CA, Contrò G, Spagnoli C, Cancelliere F, Caraffi SG, Leon A, Stefanini C, Frattini D, Rizzi S, Cavalli A, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: leon a. Neurogenetics. 2024 Jul;25(3):287-291. doi: 10.1007/s10048-024-00760-0. Epub 2024 Apr 23. Neurogenetics. 2024. PMID: 38652341 Review.
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Lattante S, Sabatelli M, Bisogni G, Marangi G, Doronzio PN, Martello F, Renzi AG, Del Giudice E, Leon A, Cimbolli P, Marchione D, Costantino U, Lucioli G, Bernardo D, Meleo E, Patanella AK, Romano A, Zollino M, Conte A. Lattante S, et al. Among authors: leon a. Eur J Neurol. 2023 May;30(5):1246-1255. doi: 10.1111/ene.15727. Epub 2023 Feb 23. Eur J Neurol. 2023. PMID: 36732882
Amniotic fluid stem cells improve survival and enhance repair of damaged intestine in necrotising enterocolitis via a COX-2 dependent mechanism.
Zani A, Cananzi M, Fascetti-Leon F, Lauriti G, Smith VV, Bollini S, Ghionzoli M, D'Arrigo A, Pozzobon M, Piccoli M, Hicks A, Wells J, Siow B, Sebire NJ, Bishop C, Leon A, Atala A, Lythgoe MF, Pierro A, Eaton S, De Coppi P. Zani A, et al. Among authors: leon a. Gut. 2014 Feb;63(2):300-9. doi: 10.1136/gutjnl-2012-303735. Epub 2013 Mar 24. Gut. 2014. PMID: 23525603
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Aromolo IF, Moltrasio C, Cozzaglio L, Colavito D, Leon A, Cavalli R, Tadini G, Brena M. Aromolo IF, et al. Among authors: leon a. Australas J Dermatol. 2023 Nov;64(4):576-578. doi: 10.1111/ajd.14143. Epub 2023 Aug 14. Australas J Dermatol. 2023. PMID: 37577813 Free article. No abstract available.
Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.
Roy S, Fussell A, Jordan D, Kadri S, Leon A, Schmidt RJ, Temple-Smolkin RL, Merker JD. Roy S, et al. Among authors: leon a. J Mol Diagn. 2024 Dec 27:S1525-1578(24)00315-5. doi: 10.1016/j.jmoldx.2024.12.002. Online ahead of print. J Mol Diagn. 2024. PMID: 39734030 Review.
2,454 results