Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis (2022)
- Authors:
- USP affiliated authors: MORENO, CRISTIANE DE ARAÚJO MARTINS - FM ; REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1111/ene.15173
- Subjects: DOENÇAS NEUROMUSCULARES; MIASTENIA GRAVIS; IMAGEM POR RESSONÂNCIA MAGNÉTICA; DIAGNÓSTICO POR IMAGEM
- Agências de fomento:
- National Human Genome Research InstituteUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI)
- National Eye InstituteUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Eye Institute (NEI)
- National Heart, Lung and Blood Institute grantUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI)
- National Human Genome Research InstituteUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI)
- USP
- Canadian Institutes of Health ResearchCanadian Institutes of Health Research (CIHR)
- Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant)Canadian Institutes of Health Research (CIHR)
- Canada Foundation for InnovationCanada Foundation for InnovationCGIAR
- Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health)
- Language: Inglês
- Imprenta:
- Source:
- Título: European journal of neurology
- ISSN: 1351-5101
- Volume/Número/Paginação/Ano: v. 29, n. 3, p. 833-842, 2022
- Status:
- Nenhuma versão em acesso aberto identificada
-
ABNT
ESTEPHAN, Eduardo de Paula et al. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis. European journal of neurology, v. 29, n. 3, p. 833-842, 2022Tradução . . Disponível em: https://doi.org/10.1111/ene.15173. Acesso em: 06 maio 2026. -
APA
Estephan, E. de P., Zambon, A. A., Thompson, R., Polavarapu, K., Jomaa, D., Topf, A., et al. (2022). Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis. European journal of neurology, 29( 3), 833-842. doi:10.1111/ene.15173 -
NLM
Estephan E de P, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Topf A, Helito PVP, Moreno CAM, Reed UC, Zanoteli E. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis [Internet]. European journal of neurology. 2022 ; 29( 3): 833-842.[citado 2026 maio 06 ] Available from: https://doi.org/10.1111/ene.15173 -
Vancouver
Estephan E de P, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Topf A, Helito PVP, Moreno CAM, Reed UC, Zanoteli E. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis [Internet]. European journal of neurology. 2022 ; 29( 3): 833-842.[citado 2026 maio 06 ] Available from: https://doi.org/10.1111/ene.15173 - Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders
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