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
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 24 fev. 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 fev. 24 ] 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 fev. 24 ] Available from: https://doi.org/10.1007/s00415-018-8736-8 - Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
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Informações sobre o DOI: 10.1007/s00415-018-8736-8 (Fonte: oaDOI API)
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