The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations (2019)
- Authors:
- USP affiliated authors: ZANOTELI, EDMAR - FM ; REED, UMBERTINA CONTI - FM
- Unidade: FM
- DOI: 10.1093/brain/awz107
- Subjects: DOENÇAS DA JUNÇÃO NEUROMUSCULAR; PROTEÍNAS DE MATRIZ EXTRACELULARES; SINAPSE; MUTAÇÃO GENÉTICA; RECEPTORES ADRENÉRGICOS; AMINAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
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ABNT
CRUZ, Pedro M. Rodriguez et al. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, v. 142, p. 1547-1560, 2019Tradução . . Disponível em: https://doi.org/10.1093/brain/awz107. Acesso em: 24 fev. 2026. -
APA
Cruz, P. M. R., Cossins, J., Estephan, E. de P., Munell, F., Selby, K., Hirano, M., et al. (2019). The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain, 142, 1547-1560. doi:10.1093/brain/awz107 -
NLM
Cruz PMR, Cossins J, Estephan E de P, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Zanoteli E, Reed UC. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations [Internet]. Brain. 2019 ; 142 1547-1560.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1093/brain/awz107 -
Vancouver
Cruz PMR, Cossins J, Estephan E de P, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Zanoteli E, Reed UC. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations [Internet]. Brain. 2019 ; 142 1547-1560.[citado 2026 fev. 24 ] Available from: https://doi.org/10.1093/brain/awz107 - Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
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Informações sobre o DOI: 10.1093/brain/awz107 (Fonte: oaDOI API)
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