Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

JAMA - 4 Nov 1992

Bertoni J M, Brown P, Goldfarb L G, Rubenstein R, Gajdusek D C

Abstract excerpt

OBJECTIVE: To identify a possible gene defect in a large kindred with atypical Creutzfeldt-Jakob disease (CJD). SUBJECTS: Over 360 kindred members, with and without progressive dementia. METHODS: Family, hospital, and clinic records were reviewed. The DNA was extracted from paraffin-embedded brain tissue of two deceased patients, and from blood leukocytes of nine healthy persons at risk. DNA was subjected to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Base Sequence
Share to Codon

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Single-Stranded

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1404799

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.PMID 1404799Read ↗

Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.Semantic proximity Read ↗

Codon 200 mutation of the prion gene: genotype-phenotype correlations.Semantic proximity Read ↗

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.Semantic proximity Read ↗

Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.Semantic proximity Read ↗

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.Semantic proximity Read ↗

A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody.Semantic proximity Read ↗

[Clinical features of familial Creutzfeldt-Jakob disease and the E200K mutation in Spain].Semantic proximity Read ↗

Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews.Semantic proximity Read ↗

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.