Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series (2024)
- Authors:
- Autor USP: ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1007/s00415-023-12070-w
- Subjects: DOENÇAS CONGÊNITAS; MIASTENIA GRAVIS; MUTAÇÃO GENÉTICA; DOENÇAS GENÉTICAS
- Agências de fomento:
- Canadian Institutes of Health Research
- Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C)
- Canada Foundation for Innovation
- Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health)
- CIHR Postdoctoral fellowships
- European Regional Development Fund (ERDF
- project NME-GPS)
- German Society for Muscular Diseases (DGM)
- Ministerium fur Kultur und Wissenschaft des Landes Nordrhein-Westfalen
- Regierenden Buergermeister von Berlin-Senatskanzlei Wissenschaft und Forschung
- Bundesministerium fur Bildung und Forschung
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2024
- Source:
- Título: JOURNAL OF NEUROLOGY
- ISSN: 0340-5354
- Volume/Número/Paginação/Ano: v. 271, n. 3, p. 1331-1341, 2024
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
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: 30 dez. 2025. -
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 2025 dez. 30 ] 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 2025 dez. 30 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58924 - Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report
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Informações sobre o DOI: 10.1007/s00415-023-12070-w (Fonte: oaDOI API)
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