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Artigo de periodico
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations (2019)
Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Zanoteli, Edmar ; Reed, Umbertina Conti
Source: Brain. Unidade: FM
Subjects: DOENÇAS DA JUNÇÃO NEUROMUSCULAR, PROTEÍNAS DE MATRIZ EXTRACELULARES, SINAPSE, MUTAÇÃO GENÉTICA, RECEPTORES ADRENÉRGICOS, AMINAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 15 out. 2024.
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 2024 out. 15 ] 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 2024 out. 15 ] Available from: https://doi.org/10.1093/brain/awz107
Artigo de periodico
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil (2018)
Estephan, Eduardo de Paula; Zambon, Antonio Alberto; Marchiori, Paulo Euripedes; Silva, Andre Macedo Serafim da; Caldas, Vitor Marques; Moreno, Cristiane Araujo Martins; Reed, Umbertina Conti; Horvath, Rita; Topf, Ana; Lochmueller, Hanns
Source: Neuromuscular disorders. Unidade: FM
Subjects: DOENÇAS DA JUNÇÃO NEUROMUSCULAR, RECEPTORES DE ACETILCOLINA, ESTUDOS DE COORTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ESTEPHAN, Eduardo de Paula et al. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular disorders, v. 28, n. 11, p. 961-964, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2018.08.007. Acesso em: 15 out. 2024.
APA
Estephan, E. de P., Zambon, A. A., Marchiori, P. E., Silva, A. M. S. da, Caldas, V. M., Moreno, C. A. M., et al. (2018). Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular disorders, 28( 11), 961-964. doi:10.1016/j.nmd.2018.08.007
NLM
Estephan E de P, Zambon AA, Marchiori PE, Silva AMS da, Caldas VM, Moreno CAM, Reed UC, Horvath R, Topf A, Lochmueller H. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil [Internet]. Neuromuscular disorders. 2018 ; 28( 11): 961-964.[citado 2024 out. 15 ] Available from: https://doi.org/10.1016/j.nmd.2018.08.007
Vancouver
Estephan E de P, Zambon AA, Marchiori PE, Silva AMS da, Caldas VM, Moreno CAM, Reed UC, Horvath R, Topf A, Lochmueller H. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil [Internet]. Neuromuscular disorders. 2018 ; 28( 11): 961-964.[citado 2024 out. 15 ] Available from: https://doi.org/10.1016/j.nmd.2018.08.007
Artigo de periodico
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome (2018)
Estephan, Eduardo de Paula; Marchiori, Paulo Euripedes; Reed, Umbertina Conti; Zanoteli, Edmar
Source: Journal of neurology. Unidade: FM
Subjects: MIASTENIA GRAVIS, MUTAÇÃO GENÉTICA, SINAIS E SINTOMAS, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 15 out. 2024.
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 2024 out. 15 ] 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 2024 out. 15 ] Available from: https://doi.org/10.1007/s00415-018-8736-8

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