Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation [Carta] (2017)
- Authors:
- USP affiliated authors: ZANOTELI, EDMAR - FM ; REED, UMBERTINA CONTI - FM
- Unidade: FM
- DOI: 10.1017/cjn.2016.322
- Subjects: MUTAÇÃO GENÉTICA; MIASTENIA GRAVIS; DOENÇAS NEURODEGENERATIVAS; GENES
- Language: Inglês
- Imprenta:
- Source:
- Título: Canadian journal of neurological sciences
- ISSN: 0317-1671
- Volume/Número/Paginação/Ano: v. 44, n. 1, p. 125-127, 2017
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- PDF de acesso aberto
- Versão do Documento: Versão publicada (Published version)
-
Status: Artigo possui acesso gratuito no site do editor (Bronze Open Access) -
ABNT
ABATH NETO, Osorio et al. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation [Carta]. Canadian journal of neurological sciences. Winnipeg: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1017/cjn.2016.322. Acesso em: 11 mar. 2026. , 2017 -
APA
Abath Neto, O., Heise, C. O., Moreno, C. de A. M., Estephan, E. de P., Mesrob, L., Lechner, D., et al. (2017). Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation [Carta]. Canadian journal of neurological sciences. Winnipeg: Faculdade de Medicina, Universidade de São Paulo. doi:10.1017/cjn.2016.322 -
NLM
Abath Neto O, Heise CO, Moreno C de AM, Estephan E de P, Mesrob L, Lechner D, Boland A, Deleuze J-F, Oliveira ASB, Reed UC, Biancalana V, Laporte J, Zanoteli E. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation [Carta] [Internet]. Canadian journal of neurological sciences. 2017 ; 44( 1): 125-127.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1017/cjn.2016.322 -
Vancouver
Abath Neto O, Heise CO, Moreno C de AM, Estephan E de P, Mesrob L, Lechner D, Boland A, Deleuze J-F, Oliveira ASB, Reed UC, Biancalana V, Laporte J, Zanoteli E. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation [Carta] [Internet]. Canadian journal of neurological sciences. 2017 ; 44( 1): 125-127.[citado 2026 mar. 11 ] Available from: https://doi.org/10.1017/cjn.2016.322 - Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
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