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Year | Number of Results |
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2020 | 1 |
2021 | 3 |
2022 | 1 |
2024 | 1 |
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Page 1
Risdiplam in Type 1 Spinal Muscular Atrophy.
N Engl J Med. 2021 Mar 11;384(10):915-923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24.
N Engl J Med. 2021.
PMID: 33626251
Clinical Trial.
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Servais L, Xiong H, Zanoteli E, Baranello G, Bruno C, Day JW, Deconinck N, Klein A, Mercuri E, Vlodavets D, Wang Y, Dodman A, El-Khairi M, Gorni K, Jaber B, Kletzl H, Gaki E, Fontoura P, Darras BT; FIREFISH Study Group.
Masson R, et al.
Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14.
Lancet Neurol. 2022.
PMID: 36244364
Clinical Trial.
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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.
N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047.
N Engl J Med. 2021.
PMID: 34320287
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E.
Mendonça RH, et al. Among authors: matsui c jr.
Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct.
Neurol Genet. 2020.
PMID: 33062891
Free PMC article.
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Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations.
Mendonça RH, Machado LMS, Heise CO, Polido GJ, Matsui C Jr, Silva AMS, Reed UC, Zanoteli E.
Mendonça RH, et al. Among authors: matsui c jr.
Neuromuscul Disord. 2021 Jun;31(6):498-504. doi: 10.1016/j.nmd.2021.02.019. Epub 2021 Feb 28.
Neuromuscul Disord. 2021.
PMID: 33824074
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Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E, Araujo APQC, Becker MM, Fortes CPDD, França MC Jr, Machado-Costa MC, Marques W Jr, Matsui C Jr, Mendonça RH, Nardes F, Oliveira ASB, Pessoa ALS, Saute JAM, Sgobbi P, Van der Linden H Jr, Gurgel-Giannetti J.
Zanoteli E, et al. Among authors: matsui c jr.
Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5.
Arq Neuropsiquiatr. 2024.
PMID: 38316428
Free PMC article.
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