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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Darras BT, et al. Among authors: zanoteli e. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy.
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, de Medeiros GC, Sassi FC, de Andrade CRF, Donkervoort S, Silva AMS, Dalfior-Junior L, Abath-Neto OL, Reed UC, Bönnemann C, Zanoteli E. Moreno CAM, et al. Among authors: zanoteli e. Neurol Genet. 2023 Jan 25;9(1):e200056. doi: 10.1212/NXG.0000000000200056. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36714460 Free PMC article.
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Among authors: zanoteli e. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Matching pairs difficulty in children with spinal muscular atrophy type I.
Polido GJ, Barbosa AF, Morimoto CH, Caromano FA, Favero FM, Zanoteli E, Reed UC, Voos MC. Polido GJ, et al. Among authors: zanoteli e. Neuromuscul Disord. 2017 May;27(5):419-427. doi: 10.1016/j.nmd.2017.01.017. Epub 2017 Feb 15. Neuromuscul Disord. 2017. PMID: 28302390
157 results