The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era.

Kounidas, Georgios; Cruickshank, Heather; Kastora, Stavroula; Sihlabela, Stella; Miedzybrodzka, Zosia

Kounidas, Georgios; Cruickshank, Heather; Kastora, Stavroula; Sihlabela, Stella; Miedzybrodzka, Zosia.

Afiliação

Kounidas G; Medical Genetics Group, School of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, Aberdeen, AB25 2ZD, UK.
Cruickshank H; North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Clinical Genetics Centre, Foresterhill, Aberdeen, AB25 2ZA, UK.
Kastora S; North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Clinical Genetics Centre, Foresterhill, Aberdeen, AB25 2ZA, UK.
Sihlabela S; Medical Genetics Group, School of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, Aberdeen, AB25 2ZD, UK.
Miedzybrodzka Z; North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Clinical Genetics Centre, Foresterhill, Aberdeen, AB25 2ZA, UK.

J Neurol ; 268(11): 4170-4177, 2021 Nov.

Article em En | MEDLINE | ID: mdl-33856548

Assuntos

Doença de Huntington; Estudos Transversais; Feminino; Heterozigoto; Humanos; Doença de Huntington/epidemiologia; Doença de Huntington/genética; Masculino; Prevalência; Escócia/epidemiologia

Palavras-chave

General practice; Huntington Disease; Prevalence; Scotland

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Huntington Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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