rs756677845
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism.
|
18524835 |
2008 |
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized.
|
18473170 |
2008 |
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
|
16700027 |
2006 |
rs74315360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
From the clinical information available for the index case, the phenotype of mild, slowly-progressive Parkinsonism is consistent with previous reports of p.A217D disease and of PINK1 disease phenotype more generally.
|
28789629 |
2017 |
rs1426868527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism.
|
27592010 |
2016 |
rs45467995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%).
|
18685134 |
2008 |
rs45539432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%).
|
18685134 |
2008 |
rs775809722
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism.
|
18286320 |
2008 |
rs28940285
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1.
|
17055324 |
2007 |