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TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.
Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graça; Santo, Gustavo; Santana, Isabel; Mönkäre, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Pöyhönen, Minna; Myllykangas, Liisa; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Santos, Mariana; Guven, Gamze; Bilgic, Basar; Bras, Jose; Beule, Dieter; Dirnagl, Ulrich; Guerreiro, Rita; Sassi, Celeste.
Afiliação
  • Foddis M; Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Blumenau S; Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Holtgrewe M; Berlin Institute of Health, BIH, Core Unit Bioinformatics and Charité - Universitätsmedizin Berlin, Berlin Germany.
  • Paquette K; Department for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan.
  • Westra K; Department for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan.
  • Alonso I; CGPP and UnIGENe, Instituto Biologia Molecular Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal.
  • Macario MDC; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Morgadinho AS; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Velon AG; Department of Neurology, Centro Hospitalar Trás-os-Montes e Alto Douro, Portugal.
  • Santo G; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Centro de Neurociências e Biologia Celular da Universidade de Coimbra, Coimbra, Portugal.
  • Santana I; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal; Centro de Neurociências e Biologia Celular da Universidade de Coimbra, Coimbra, Portugal.
  • Mönkäre S; Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Turku University Hospital, Laboratory Division, Genomics, Department of Medical Genetics, Turku, Finland.
  • Kuuluvainen L; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Schleutker J; Turku University Hospital, Laboratory Division, Genomics, Department of Medical Genetics, Turku, Finland.
  • Pöyhönen M; Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
  • Myllykangas L; Department of Pathology, University of Helsinki and HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
  • Pavlovic A; Clinic of Neurology, University of Belgrade, Belgrade, Serbia; Faculty for Special Education and Rehabilitation, University of Belgrade, Belgrade.
  • Kostic V; Clinic of Neurology, University of Belgrade, Belgrade, Serbia.
  • Dobricic V; Clinic of Neurology, University of Belgrade, Belgrade, Serbia.
  • Lohmann E; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; DZNE, German Center for
  • Hanagasi H; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Santos M; UnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
  • Guven G; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Bilgic B; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Bras J; Department for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
  • Beule D; Berlin Institute of Health, BIH, Core Unit Bioinformatics and Charité - Universitätsmedizin Berlin, Berlin Germany.
  • Dirnagl U; Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Guerreiro R; Department for Neurodegenerative Science, Van Andel Research Institute, Grand Rapids, Michigan; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
  • Sassi C; Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address: celeste.sassi.10@alumni.ucl.ac.uk.
Neurobiol Aging ; 123: 208-215, 2023 03.
Article em En | MEDLINE | ID: mdl-36586737
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: CADASIL / Leucoencefalopatias / Doenças de Pequenos Vasos Cerebrais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: CADASIL / Leucoencefalopatias / Doenças de Pequenos Vasos Cerebrais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article