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A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan, Eduardo de Paula; Sobreira, Cláudia Ferreira da Rosa; Dos Santos, André Clériston José; Tomaselli, Pedro José; Marques, Wilson; Ortega, Roberta Paiva Magalhães; Costa, Marcela Câmara Machado; da Silva, André Macedo Serafim; Mendonça, Rodrigo Holanda; Caldas, Vitor Marques; Zambon, Antonio Alberto; Abath Neto, Osório; Marchiori, Paulo Eurípedes; Heise, Carlos Otto; Reed, Umbertina Conti; Azuma, Yoshiteru; Töpf, Ana; Lochmüller, Hanns; Zanoteli, Edmar.
Affiliation
  • Estephan EP; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Sobreira CFDR; Department of Neurosciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Dos Santos ACJ; Department of Neurosciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Tomaselli PJ; Department of Neurosciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Marques W; Department of Neurosciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Ortega RPM; Neuropediatric Division, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil.
  • Costa MCM; Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brazil.
  • da Silva AMS; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Mendonça RH; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Caldas VM; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Zambon AA; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Abath Neto O; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Marchiori PE; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Heise CO; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Reed UC; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
  • Azuma Y; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Töpf A; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Lochmüller H; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil. edmar.zanoteli@usp.br.
J Neurol ; 265(3): 708-713, 2018 Mar.
Article in En | MEDLINE | ID: mdl-29383513
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Nicotinic / Myasthenic Syndromes, Congenital / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: America do sul / Brasil Language: En Journal: J Neurol Year: 2018 Document type: Article Affiliation country: Brasil Country of publication: Alemania
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Nicotinic / Myasthenic Syndromes, Congenital / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: America do sul / Brasil Language: En Journal: J Neurol Year: 2018 Document type: Article Affiliation country: Brasil Country of publication: Alemania