New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family

Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD

John Collinge, Katie Sidle, Julie Meads et al. · Nature · 1996 · 1.7K citations

Veterinary Medicine, Genetics, Molecular Genetics +15

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

Lev G. Goldfarb, Robert B. Petersen, Massimo Tabaton et al. · Science · 1992 · 718 citations

Life Sciences, Genetics, Molecular Genetics +17

Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease.

Tetsuyuki Kitamoto, R W Shin, Katsumi Doh‐ura et al. · PubMed · 1992 · 270 citations

Life Sciences, Neurology, Neuroscience +12

Codon 219 lys allele of PRNP is not found in sporadic Creutzfeldt‐Jakob disease

Satoshi Shibuya, June Higuchi, Ryong‐Woon Shin et al. · Annals of Neurology · 1998 · 162 citations

Life Sciences, Genetics, Molecular Genetics +11

Human prion diseases with variant prion protein

Tetsuyuki Kitamoto, Jun Tateishi · Philosophical Transactions of the Royal Society B Biological Sciences · 1994 · 90 citations

Life Sciences, Genetics, Neurology +16