Quantifying prion disease penetrance using large population control cohorts

Abstract

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Keywords

Affiliated Institutions

• Jichi Medical University JP
• Harvard University US
• Assistance Publique – Hôpitaux de Paris FR
• The University of Melbourne AU
• Boston Children's Hospital US
• Hôpital Lariboisière FR
• Sorbonne Université FR
• National Center of Neurology and Psychiatry JP
• Broad Institute US
• Tokyo Medical and Dental University JP
• University of North Carolina at Chapel Hill US
• Icahn School of Medicine at Mount Sinai US
• Erasmus MC NL
• Ludwig-Maximilians-Universität München DE
• Western General Hospital GB
• Karolinska Institutet SE
• Erasmus University Rotterdam NL
• Istituto Superiore di Sanità IT
• Massachusetts General Hospital US
• Centre National de la Recherche Scientifique FR
• University of Bologna IT
• University Hospitals Cleveland Medical Center US
• Centro de Investigación Biomédica en Red ES
• Inserm FR
• University of Eastern Finland FI
• 23andMe (United States) US
• Kuopio University Hospital FI
• Massachusetts Institute of Technology US
• Instituto de Salud Carlos III ES
• University of Michigan US
• Institute of Neurological Sciences IT
• University Medical Center Utrecht NL
• Kanazawa University JP
• Prion Alliance US
• Institut du Cerveau FR
• Tohoku University JP

Related Publications