Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy (2020)
- Authors:
- USP affiliated authors: MARQUES JÚNIOR, WILSON - FMRP ; KOK, FERNANDO - FM ; REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidades: FMRP; FM
- DOI: 10.1212/NXG.0000000000000505
- Subjects: ATROFIA MUSCULAR; FENÓTIPOS; GENES
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2020
- Source:
- Título: Neurology-genetics
- ISSN: 2376-7839
- Volume/Número/Paginação/Ano: v. 6, n. 5, article ID e505, 10p, 2020
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- PDF de acesso aberto
- Versão do Documento: Versão publicada (Published version)
-
Status: Artigo publicado em periódico de acesso aberto (Gold Open Access) -
ABNT
MENDONCA, Rodrigo de Holanda et al. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology-genetics, v. 6, n. 5, 2020Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000505. Acesso em: 15 mar. 2026. -
APA
Mendonca, R. de H., Matsui Junior, C., Polido, G. J., Silva, A. M. S., Kulikowski, L., Dias, A. T., et al. (2020). Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy. Neurology-genetics, 6( 5). doi:10.1212/NXG.0000000000000505 -
NLM
Mendonca R de H, Matsui Junior C, Polido GJ, Silva AMS, Kulikowski L, Dias AT, Zanardo EA, Marques Júnior W, Tomaselli PJ, Kok F, Reed UC, Zanoteli E. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2026 mar. 15 ] Available from: https://doi.org/10.1212/NXG.0000000000000505 -
Vancouver
Mendonca R de H, Matsui Junior C, Polido GJ, Silva AMS, Kulikowski L, Dias AT, Zanardo EA, Marques Júnior W, Tomaselli PJ, Kok F, Reed UC, Zanoteli E. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2026 mar. 15 ] Available from: https://doi.org/10.1212/NXG.0000000000000505 - A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
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