PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SYNJ1 have been associated with early onset of atypical Parkinson's disease (PARK20).
|
31751865 |
2019 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
BEFREE |
Our data indicate that Synj1 plays a crucial role in regulating the homeostasis and functions of early endosomal compartments in different cell types, and highlight defective cellular pathways in PARK20.
|
29515184 |
2018 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
|
27869329 |
2017 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
|
27435091 |
2016 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
|
27496670 |
2016 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
|
27435091 |
2016 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
|
27496670 |
2016 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
|
25316601 |
2015 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20).
|
24816432 |
2014 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
|
23804563 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
|
23804577 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
|
23804577 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
|
23804563 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
|
23804563 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
|
23804577 |
2013 |
PARKINSON DISEASE 20, EARLY-ONSET
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|