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Artigo de periodico
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series (2024)
Pugliese, Alessia; Marina, Adela Della; Estephan, Eduardo de Paula; Zanoteli, Edmar ; Roos, Andreas; Schara-Schmidt, Ulrike; Hentschel, Andreas; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel
Source: JOURNAL OF NEUROLOGY. Unidade: FM
Subjects: DOENÇAS CONGÊNITAS, MIASTENIA GRAVIS, MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PUGLIESE, Alessia et al. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. JOURNAL OF NEUROLOGY, v. 271, n. 3, p. 1331-1341, 2024Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/58924. Acesso em: 11 nov. 2024.
APA
Pugliese, A., Marina, A. D., Estephan, E. de P., Zanoteli, E., Roos, A., Schara-Schmidt, U., et al. (2024). Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. JOURNAL OF NEUROLOGY, 271( 3), 1331-1341. doi:10.1007/s00415-023-12070-w
NLM
Pugliese A, Marina AD, Estephan E de P, Zanoteli E, Roos A, Schara-Schmidt U, Hentschel A, Azuma Y, Topf A, Thompson R. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series [Internet]. JOURNAL OF NEUROLOGY. 2024 ; 271( 3): 1331-1341.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58924
Vancouver
Pugliese A, Marina AD, Estephan E de P, Zanoteli E, Roos A, Schara-Schmidt U, Hentschel A, Azuma Y, Topf A, Thompson R. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series [Internet]. JOURNAL OF NEUROLOGY. 2024 ; 271( 3): 1331-1341.[citado 2024 nov. 11 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58924
Artigo de periodico-carta/editorial
A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta] (2020)
Gomes, Caio Perez; Silva, Andre Macedo Serafim da; Zanoteli, Edmar ; Pesquero, Joao Bosco
Source: Acta neurologica belgica. Unidade: FM
Subjects: ACONSELHAMENTO GENÉTICO, MUTAÇÃO, GENÔMICA, EXERCÍCIO FÍSICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Caio Perez et al. A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta]. Acta neurologica belgica. Heidelberg: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1007/s13760-019-01159-7. Acesso em: 11 nov. 2024. , 2020
APA
Gomes, C. P., Silva, A. M. S. da, Zanoteli, E., & Pesquero, J. B. (2020). A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta]. Acta neurologica belgica. Heidelberg: Faculdade de Medicina, Universidade de São Paulo. doi:10.1007/s13760-019-01159-7
NLM
Gomes CP, Silva AMS da, Zanoteli E, Pesquero JB. A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta] [Internet]. Acta neurologica belgica. 2020 ; 120( 3): 705-707.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s13760-019-01159-7
Vancouver
Gomes CP, Silva AMS da, Zanoteli E, Pesquero JB. A new mutation in PYGM causing McArdle disease in a Brazilian patient [Carta] [Internet]. Acta neurologica belgica. 2020 ; 120( 3): 705-707.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s13760-019-01159-7
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: 11 nov. 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 nov. 11 ] 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 nov. 11 ] Available from: https://doi.org/10.1007/s00415-018-8736-8
Artigo de periodico
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues (2017)
Biancalana, Valérie; Zanoteli, Edmar
Source: Acta neuropathologica. Unidade: FM
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, MUTAÇÃO GENÉTICA, DIAGNÓSTICO, DOENÇAS CONGÊNITAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BIANCALANA, Valérie e ZANOTELI, Edmar. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta neuropathologica, v. 134, p. 889-904, 2017Tradução . . Disponível em: https://doi.org/10.1007/s00401-017-1748-0. Acesso em: 11 nov. 2024.
APA
Biancalana, V., & Zanoteli, E. (2017). Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta neuropathologica, 134, 889-904. doi:10.1007/s00401-017-1748-0
NLM
Biancalana V, Zanoteli E. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues [Internet]. Acta neuropathologica. 2017 ; 134 889-904.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s00401-017-1748-0
Vancouver
Biancalana V, Zanoteli E. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues [Internet]. Acta neuropathologica. 2017 ; 134 889-904.[citado 2024 nov. 11 ] Available from: https://doi.org/10.1007/s00401-017-1748-0

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