|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
|
27803826 |
2016 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Quantifying prion disease penetrance using large population control cohorts.
|
26791950 |
2016 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
|
25522698 |
2015 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population.
|
25064618 |
2014 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach.
|
23723004 |
2013 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease.
|
23296137 |
2013 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Codon 200 mutation of the prion gene: genotype-phenotype correlations.
|
22584955 |
2012 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival.
|
23132868 |
2012 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease.
|
22318125 |
2012 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells.
|
21298055 |
2011 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.
|
20593190 |
2011 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease.
|
22072968 |
2011 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein.
|
20139714 |
2010 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.
|
20514992 |
2010 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.
|
17494694 |
2007 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
"[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a ""sporadic"" case]."
|
15366237 |
2004 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
When sporadic disease is not sporadic: the potential for genetic etiology.
|
14967768 |
2004 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.
|
11839833 |
2002 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.
|
11756597 |
2001 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
|
10360778 |
1999 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Familial mutations and the thermodynamic stability of the recombinant human prion protein.
|
9813003 |
1998 |
|
HUNTINGTON DISEASE-LIKE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.
|
2572450 |
1989 |