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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
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O'Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O'Connell MR. Broly M, et al. Among authors: leon a. Am J Hum Genet. 2022 Apr 7;109(4):587-600. doi: 10.1016/j.ajhg.2022.02.001. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196516 Free PMC article.
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.
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.
Disseminated Mycobacterial Infection With Reactive Polyarthritis (Poncet's Disease) During Immune-suppressive Treatment Including Ustekinumab for Pediatric Crohn's Disease.
Minotti C, Costenaro P, Donà D, Zuliani M, Bosa L, Leon A, Perilongo G, Gaio P, Martini G, Cananzi M. Minotti C, et al. Among authors: leon a. Pediatr Infect Dis J. 2024 Jun 1;43(6):543-549. doi: 10.1097/INF.0000000000004277. Epub 2024 Feb 20. Pediatr Infect Dis J. 2024. PMID: 38377462
2,455 results