A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome (2018)
- Authors:
- USP affiliated authors: MARCHIORI, PAULO EURIPEDES - FM ; REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1007/s00415-018-8736-8
- Subjects: MIASTENIA GRAVIS; MUTAÇÃO GENÉTICA; SINAIS E SINTOMAS; BRASIL
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2018
- Source:
- Título: Journal of neurology
- ISSN: 0340-5354
- Volume/Número/Paginação/Ano: v. 265, n. 3, p. 708-713, 2018
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão submetida (Pré-print)
- Acessar versão aberta:
-
ABNT
ESTEPHAN, Eduardo de Paula et al. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. Journal of neurology, v. 265, n. 3, p. 708-713, 2018Tradução . . Disponível em: https://doi.org/10.1007/s00415-018-8736-8. Acesso em: 09 maio 2026. -
APA
Estephan, E. de P., Marchiori, P. E., Reed, U. C., & Zanoteli, E. (2018). A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. Journal of neurology, 265( 3), 708-713. doi:10.1007/s00415-018-8736-8 -
NLM
Estephan E de P, Marchiori PE, Reed UC, Zanoteli E. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome [Internet]. Journal of neurology. 2018 ; 265( 3): 708-713.[citado 2026 maio 09 ] Available from: https://doi.org/10.1007/s00415-018-8736-8 -
Vancouver
Estephan E de P, Marchiori PE, Reed UC, Zanoteli E. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome [Internet]. Journal of neurology. 2018 ; 265( 3): 708-713.[citado 2026 maio 09 ] Available from: https://doi.org/10.1007/s00415-018-8736-8 - Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil
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