|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We describe a D178N-129M haplotype in a patient with early, severe dementia and late-onset minor insomnia, mainly presenting as the CJD phenotype.
|
25220284 |
2015 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These findings underline the clear-cut distinction between the neuropathological features of Creutzfeldt-Jakob disease associated with D178N PRNP mutation and those of fatal familial insomnia.
|
24118545 |
2014 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
|
21071944 |
2010 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Recent phenotype-genotype correlation studies revealed a considerable clinical and pathological overlap for patients with the D178N mutation, suggesting a continuous spectrum between fatal familial insomnia and Creutzfeldt-Jakob Disease phenotype.
|
19228673 |
2009 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion "strains" with diverse pathological potential.
|
12849238 |
2003 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
|
10790216 |
2000 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing point mutations corresponding to Gerstmann-Straussler-Scheinker disease (P102L), Creutzfeld-Jakob disease (E200K), and fatal familial insomnia (M129/D178N).
|
9813003 |
1998 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and CJD, was not described so far among Jews.
|
9531435 |
1998 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The D178N mutation coupled with the 129 valine codon is linked to a subtype of Creutzfeldt-Jakob disease (CJD178) with a different phenotype.
|
9669705 |
1998 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia (FFI) and a subtype of Creutzfeldt-Jakob disease (CJD178), as well as for insertional mutations associated with another CJD subtype.
|
9288728 |
1997 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).
|
8647879 |
1996 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
|
7913755 |
1994 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia and a subtype of Creutzfeldt-Jakob disease, two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asp-178-->Asn) but segregate with different genotypes determined by this mutation and the methionine-valine polymorphism at codon 129 of the prion protein gene.
|
7908444 |
1994 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
|
7906019 |
1994 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
|
1975028 |
1990 |