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Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo, J; Zavala, L; Vega, P; González-Morón, D; Medina, N; Salinas, V; Rosales, J; Córdoba, M; Arakaki, T; Garretto, N; Rodríguez-Quiroga, S; Kauffman, M A.
Afiliação
  • Perez Maturo J; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Zavala L; Precision Medicine and Genomics Group, IIMT-CONICET and Faculty of Biomedical Sciences-Austral University, Buenos Aires, Argentina.
  • Vega P; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • González-Morón D; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Medina N; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Salinas V; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Rosales J; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Córdoba M; Precision Medicine and Genomics Group, IIMT-CONICET and Faculty of Biomedical Sciences-Austral University, Buenos Aires, Argentina.
  • Arakaki T; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Garretto N; Neurogenetics Unit, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Rodríguez-Quiroga S; Movement Disorders Area, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
  • Kauffman MA; Movement Disorders Area, Neurology Division, J.M. Ramos Mejía Hospital, University Center of Neurology "J. M. Ramos Mejía," Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
J Hum Genet ; 65(10): 895-902, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32488064
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Ataxia Cerebelar / Heterogeneidade Genética / Técnicas de Diagnóstico Molecular Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Humans / Middle aged País/Região como assunto: America do sul / Argentina Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Argentina
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Ataxia Cerebelar / Heterogeneidade Genética / Técnicas de Diagnóstico Molecular Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Humans / Middle aged País/Região como assunto: America do sul / Argentina Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Argentina