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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones, Emma; Hummerich, Holger; Viré, Emmanuelle; Uphill, James; Dimitriadis, Athanasios; Speedy, Helen; Campbell, Tracy; Norsworthy, Penny; Quinn, Liam; Whitfield, Jerome; Linehan, Jacqueline; Jaunmuktane, Zane; Brandner, Sebastian; Jat, Parmjit; Nihat, Akin; How Mok, Tze; Ahmed, Parvin; Collins, Steven; Stehmann, Christiane; Sarros, Shannon; Kovacs, Gabor G; Geschwind, Michael D; Golubjatnikov, Aili; Frontzek, Karl; Budka, Herbert; Aguzzi, Adriano; Karamujic-Comic, Hata; van der Lee, Sven J; Ibrahim-Verbaas, Carla A; van Duijn, Cornelia M; Sikorska, Beata; Golanska, Ewa; Liberski, Pawel P; Calero, Miguel; Calero, Olga; Sanchez-Juan, Pascual; Salas, Antonio; Martinón-Torres, Federico; Bouaziz-Amar, Elodie; Haïk, Stéphane; Laplanche, Jean-Louis; Brandel, Jean-Phillipe; Amouyel, Phillipe; Lambert, Jean-Charles; Parchi, Piero; Bartoletti-Stella, Anna; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Pocchiari, Maurizio.
Afiliación
  • Jones E; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Hummerich H; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Viré E; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Uphill J; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Dimitriadis A; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Speedy H; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Campbell T; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Norsworthy P; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Quinn L; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Whitfield J; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Linehan J; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Jaunmuktane Z; Division of Neuropathology, University College London Hospitals National Health Service Foundation Trust, London, UK; Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, University College London Queen Square Institute of Neurology, London, UK.
  • Brandner S; Division of Neuropathology, University College London Hospitals National Health Service Foundation Trust, London, UK; Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, London, UK.
  • Jat P; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Nihat A; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK; National Prion Clinic, University College London Hospitals National Health Service Foundation Trust, London, UK.
  • How Mok T; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK; National Prion Clinic, University College London Hospitals National Health Service Foundation Trust, London, UK.
  • Ahmed P; Medical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.
  • Collins S; Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
  • Stehmann C; Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
  • Sarros S; Australian National Creutzfeldt-Jakob Disease Registry, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
  • Kovacs GG; Institute of Neurology, Medical University of Vienna, Vienna, Austria; Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, ON, Canada; Laboratory Medicine Program, Krembil Brain Institute, University Health Net
  • Geschwind MD; University of California San Francisco Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
  • Golubjatnikov A; University of California San Francisco Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
  • Frontzek K; Institute of Neuropathology, University of Zurich, Zurich, Switzerland.
  • Budka H; Institute of Neuropathology, University of Zurich, Zurich, Switzerland; Medical University Vienna, Vienna, Austria.
  • Aguzzi A; Institute of Neuropathology, University of Zurich, Zurich, Switzerland.
  • Karamujic-Comic H; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • van der Lee SJ; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Ibrahim-Verbaas CA; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • van Duijn CM; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  • Sikorska B; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.
  • Golanska E; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.
  • Liberski PP; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.
  • Calero M; Chronic Disease Programme (UFIEC-CROSADIS) and Network Centre for Biomedical Research in Neurodegenerative Diseases (CIBERNED), and Alzheimer Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Centre, Instituto de Salud Carlos III, Madrid, Spain.
  • Calero O; Chronic Disease Programme (UFIEC-CROSADIS) and Network Centre for Biomedical Research in Neurodegenerative Diseases (CIBERNED), and Alzheimer Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Centre, Instituto de Salud Carlos III, Madrid, Spain.
  • Sanchez-Juan P; Neurology Service, University Hospital Marqués de Valdecilla, University of Cantabria, CIBERNED and IDIVAL, Santander, Spain.
  • Salas A; Unidade de Xenética, Instituto de Ciencias Forenses (INCIFOR), Facultade de Medicina, Universidade de Santiago de Compostela, and GenPoB Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago (SERGAS), Galicia, Spain.
  • Martinón-Torres F; Translational Paediatrics and Infectious Diseases, Department of Paediatrics, Hospital Clínico Universitario de Santiago de Compostela, Galicia, Spain.
  • Bouaziz-Amar E; Department of Biochemistry and Molecular Biology, Lariboisière Hospital, AP-HP, University of Paris, Paris, France.
  • Haïk S; Sorbonne Université, INSERM U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Cellule nationale de référence des maladies de Creutzfeldt-Jakob, AP-HP, University Hospital Pitié-Salpêtrière, Paris, France.
  • Laplanche JL; Department of Biochemistry and Molecular Biology, Lariboisière Hospital, AP-HP, University of Paris, Paris, France.
  • Brandel JP; Sorbonne Université, INSERM U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Cellule nationale de référence des maladies de Creutzfeldt-Jakob, AP-HP, University Hospital Pitié-Salpêtrière, Paris, France.
  • Amouyel P; INSERM, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Labex DISTALZ, University of Lille, Lille, France.
  • Lambert JC; INSERM, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Labex DISTALZ, University of Lille, Lille, France.
  • Parchi P; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Bartoletti-Stella A; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Capellari S; IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Poleggi A; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
  • Ladogana A; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
  • Pocchiari M; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
Lancet Neurol ; 19(10): 840-848, 2020 10.
Article en En | MEDLINE | ID: mdl-32949544

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Creutzfeldt-Jakob / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Sitios Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Lancet Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Creutzfeldt-Jakob / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Sitios Genéticos Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Lancet Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido