Condition: Creutzfeldt-Jakob disease


rs4921542 in MTMR7;LOC102724838 gene and Creutzfeldt-Jakob disease PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

rs3863150 in PLCXD3 gene and Creutzfeldt-Jakob disease PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

rs1799990 in PRNP gene and Creutzfeldt-Jakob disease PMID 19081515 2009 Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.

PMID 7902693 1993 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

PMID 7913755 1994 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.

PMID 8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1975028 1990 Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.

PMID 1671440 1991 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 7906019 1994 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

PMID 8909447 1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

PMID 14761942 2004 The effect of disease-associated mutations on the folding pathway of human prion protein.

PMID 23176099 2012 Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years.

rs16840647 in RGS7 gene and Creutzfeldt-Jakob disease PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

rs8074026 in SERPINF2 gene and Creutzfeldt-Jakob disease PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.