Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetic PrP Prion Diseases.
|
28778873 |
2018 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Prion diseases.
|
28987186 |
2017 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetics of prion diseases.
|
23518043 |
2013 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
|
21911696 |
2011 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The genetics of prion diseases.
|
20216075 |
2010 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).
|
16769939 |
2006 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
|
16831973 |
2006 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Prion disease genetics.
|
16391566 |
2006 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.
|
15824374 |
2005 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
High incidence of genetic human transmissible spongiform encephalopathies in Italy.
|
15883322 |
2005 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations of the prion protein gene phenotypic spectrum.
|
12420099 |
2002 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.
|
12451207 |
2002 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
|
11709001 |
2001 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetic influence on the structural variations of the abnormal prion protein.
|
10963679 |
2000 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.
|
10408557 |
1999 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.
|
10541874 |
1999 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The prion diseases.
|
9669700 |
1998 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
|
7699395 |
1994 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis.
|
8250529 |
1993 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.
|
7902972 |
1993 |