|
rs74315407
|
|
|
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
|
|
|
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
|
|
|
0.870 |
GeneticVariation |
BEFREE |
MRI provides useful information in E200K and V210I gCJD patients.
|
22407223 |
2013 |
|
rs74315407
|
|
|
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
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
rs74315407
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs74315407
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
|
rs74315407
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
|
7906019 |
1994 |
|
rs74315407
|
|
|
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
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
|
rs74315407
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
|
rs74315407
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
rs74315407
|
|
|
0.870 |
GeneticVariation |
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
|
rs74315407
|
|
|
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
|
|
A |
0.870 |
CausalMutation |
CLINVAR |
|
|
|