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Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez, Daniela; Polese-Bonatto, Márcia; Scudeiro, Laís Alves Jacinto; Björkhem, Ingemar; Schöls, Ludger; Jardim, Laura Bannach; Matte, Ursula; Saraiva-Pereira, Maria Luiza; Siebert, Marina; Saute, Jonas Alex Morales.
Afiliação
  • Burguez D; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Polese-Bonatto M; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Scudeiro LAJ; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Björkhem I; Karolinska University Hospital Huddinge, Karolinska Institute, Stockholm, Sweden.
  • Schöls L; Center for Neurology, Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, Tübingen, Germany.
  • Jardim LB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Gra
  • Matte U; Unit of Molecular and Protein Analysis (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do
  • Saraiva-Pereira ML; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Biochemistry, Universidade Federal do Rio Grande do Sul, Porto
  • Siebert M; Unit of Molecular and Protein Analysis (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Saute JAM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgrad
J Neurol Sci ; 383: 18-25, 2017 Dec 15.
Article em En | MEDLINE | ID: mdl-29246610

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil