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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-25279981
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Priones / Sesgo / Síndrome de Creutzfeldt-Jakob / Edad de Inicio / Anticipación Genética / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Priones / Sesgo / Síndrome de Creutzfeldt-Jakob / Edad de Inicio / Anticipación Genética / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos