Associated Papers
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Creutzfeldt-Jakob disease presenting as psychiatric disorder: case presentation and systematic review.
Huang B et al.
Frontiers in Neurology, 2024
Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases.
Areškevičiūtė A et al.
Journal of Neuropathology and Experimental Neurology, 2019
Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder.
Jiang AA et al.
Bmj Case Reports, 2019
Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism.
Areškeviciute A et al.
Journal of Neuropathology and Experimental Neurology, 2018
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.
Yu SL et al.
European Journal of Human Genetics : Ejhg, 2004
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