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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Miranda, Marcelo; Harmuth, Florian; Bustamante, M Leonor; Rossi, Malco; Sturm, Marc; Magnusson, Ólafur Th; Bauer, Peter; Klockgether, Thomas; Ramirez, Alfredo.
Afiliação
  • Miranda M; Fundación Diagnosis, Santiago, Chile; Department of Neurology, Clinica Las Condes, Santiago, Chile.
  • Harmuth F; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Bustamante ML; Fundación Diagnosis, Santiago, Chile; Human Genetics Program, Biomedical Sciences Institute, Faculty of Medicine, University of Chile, Santiago, Chile; Department of Psychiatry and Mental Health, North Division, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Rossi M; Movement Disorders Section, Neuroscience Department, Fleni, Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Magnusson ÓT; deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland.
  • Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; Centogene AG, Am Strande 7, Rostock, Germany.
  • Klockgether T; Department of Neurology, University of Bonn, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Ramirez A; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, Medical Faculty, Cologne, Germany; Department of Neurodegenerative Diseases and Geriatric Psychiatry, University
Parkinsonism Relat Disord ; 81: 45-47, 2020 12.
Article em En | MEDLINE | ID: mdl-33049588
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / ATPases Translocadoras de Prótons / Transtornos Parkinsonianos Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: America do sul / Chile Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Chile País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / ATPases Translocadoras de Prótons / Transtornos Parkinsonianos Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: America do sul / Chile Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Chile País de publicação: Reino Unido