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Spinal Muscular Atrophy.
Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Nicolau S, et al. Semin Pediatr Neurol. 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11. Semin Pediatr Neurol. 2021. PMID: 33892848 Review.
Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New.
Mackenzie SJ, Nicolau S, Connolly AM, Mendell JR. Mackenzie SJ, et al. Among authors: nicolau s. Semin Pediatr Neurol. 2021 Apr;37:100877. doi: 10.1016/j.spen.2021.100877. Epub 2021 Feb 11. Semin Pediatr Neurol. 2021. PMID: 33892842 Review.
Sporadic Late-Onset Nemaline Myopathy: Current Landscape.
Nicolau S, Milone M. Nicolau S, et al. Curr Neurol Neurosci Rep. 2023 Nov;23(11):777-784. doi: 10.1007/s11910-023-01311-0. Epub 2023 Oct 19. Curr Neurol Neurosci Rep. 2023. PMID: 37856049 Review.
Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD).
Ducharme-Smith A, Nicolau S, Chahal CAA, Ducharme-Smith K, Rehman S, Jaliparthy K, Khan N, Scott CG, St Louis EK, Liewluck T, Somers VK, Lin G, Brady PA, Milone M. Ducharme-Smith A, et al. Among authors: nicolau s. Front Neurol. 2021 May 24;12:668180. doi: 10.3389/fneur.2021.668180. eCollection 2021. Front Neurol. 2021. PMID: 34108930 Free PMC article.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: nicolau s. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
248 results