rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Exome sequencing of the three CJD patients with E200K and 11 of the family of one patient (case1) were performed using the Illumina HiSeq 2000.
|
25149502 |
2014 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate possible selection biases or confounding factors related to anticipation in E200K CJD patients belonging to a cluster in Southern Italy.
|
23565236 |
2013 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To this effect, we subjected blood mRNA from E200K PrP CJD patients and corresponding family members to global arrays and found that the expression of Snord3A, a non-coding RNA transcript, was elevated several times in CJD patients as compared to controls, while asymptomatic carriers presented intermediate Snord3A levels.
|
23349890 |
2013 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
|
20730466 |
2010 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.
|
20514992 |
2010 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation.
|
19822779 |
2009 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Prions from E200K and classical CJD M129 homozygous patients, transmitted disease with equivalent efficiencies and short incubation periods in human PrP 200K, 129M transgenic mice.
|
19218199 |
2009 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An identical pathogenic mutation at the homologous codon position (E200K) in the human Prnp has been described as the most common cause of genetic CJD.
|
18787697 |
2008 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.
|
11839833 |
2002 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)).
|
10360778 |
1999 |
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied prion proteins (PrP) in skin and brains of Libyan Jews carrying the E200K mutation who died of familial Creutzfeldt-Jakob disease (CJD).
|
8564843 |
1996 |