Ascertainment bias causes false signal of anticipation in genetic prion disease.

Minikel, Eric Vallabh; Zerr, Inga; Collins, Steven J; Ponto, Claudia; Boyd, Alison; Klug, Genevieve; Karch, André; Kenny, Joanna; Collinge, John; Takada, Leonel T; Forner, Sven; Fong, Jamie C; Mead, Simon; Geschwind, Michael D

Minikel, Eric Vallabh; Zerr, Inga; Collins, Steven J; Ponto, Claudia; Boyd, Alison; Klug, Genevieve; Karch, André; Kenny, Joanna; Collinge, John; Takada, Leonel T; Forner, Sven; Fong, Jamie C; Mead, Simon; Geschwind, Michael D.

Afiliação

Minikel EV; Prion Alliance, Cambridge, MA 02139, USA; Broad Institute, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: eric.minikel@prionalliance.org.
Zerr I; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany; German Center for Neurodegenerative Disease (DZNE), 37073 Goettingen, Germany.
Collins SJ; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Ponto C; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany.
Boyd A; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Klug G; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Karch A; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany.
Kenny J; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Collinge J; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Takada LT; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Forner S; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Fong JC; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Mead S; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Geschwind MD; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.

Am J Hum Genet ; 95(4): 371-82, 2014 Oct 02.

Article em En | MEDLINE | ID: mdl-25279981

Assuntos

Idade de Início; Antecipação Genética/genética; Viés; Síndrome de Creutzfeldt-Jakob/genética; Doenças Genéticas Inatas/genética; Mutação/genética; Príons/genética; Adolescente; Adulto; Idoso; Criança; Simulação por Computador; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Modelos Estatísticos; Linhagem; Proteínas Priônicas; Estudos Retrospectivos; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Príons / Viés / Síndrome de Creutzfeldt-Jakob / Idade de Início / Antecipação Genética / Doenças Genéticas Inatas / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article

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