rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia.
26268049
2016
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
In genetic CJD associated with V210I or R208H PrP substitutions, the pathogenic role of mutant residues is still poorly understood.
25450391
2014
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
MRI provides useful information in E200K and V210I gCJD patients.
22407223
2013
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
In this work, we describe the NMR solution-state structure of the truncated recombinant human PrP (HuPrP) carrying the pathological V210I mutation linked to genetic Creutzfeldt-Jakob disease .
21839748
2011
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
19927125
2010
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
20298421
2010
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
Six percent of all patients had a PRNP mutation, mainly D178N-129M (FFI), E200K and V210I .Iatrogenic CJD was a rare phenomenon.
17472986
2007
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu) both associated to familial CJD .
10936643
2000
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
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
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
BEFREE
Mutation at codon 210 (V210I ) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease .
10526198
1999
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
8909447
1996
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
7906019
1994
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
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
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
7902693
1993
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
8461023
1993
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
1439789
1992
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
1671440
1991
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.870
GeneticVariation
UNIPROT
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
1975028
1990
rs74315407
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
A
0.870
CausalMutation
CLINVAR