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Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Paucar, Martin; Laffita-Mesa, José; Niemelä, Valter; Malmgren, Helena; Nennesmo, Inger; Lagerstedt-Robinson, Kristina; Nordenskjöld, Magnus; Svenningsson, Per.
Afiliação
  • Paucar M; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: martin.paucar-arce@regionstockholm.se.
  • Laffita-Mesa J; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address: jose.laffita@ki.se.
  • Niemelä V; Institute for Medical Sciences, Uppsala University, Uppsala, Sweden.
  • Malmgren H; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: helena.malmgren@regionstockholm.se.
  • Nennesmo I; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden. Electronic address: inger.nennesmo@regionstockholm.se.
  • Lagerstedt-Robinson K; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: kristina.lagerstedt-robinson@regionstockholm.se.
  • Nordenskjöld M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Electronic address: magnus.nordenskjold@ki.se.
  • Svenningsson P; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden. Electronic address: per.svenningsson@ki.se.
J Neurol Sci ; 451: 120707, 2023 08 15.
Article em En | MEDLINE | ID: mdl-37379724
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Príons / Doenças Priônicas / Doença de Huntington / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Príons / Doenças Priônicas / Doença de Huntington / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article