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PARKINSON DISEASE 20, EARLY-ONSET

Known as: PARK20 
 
National Institutes of Health

Related topics

Related topics

9 relations
Autosomal recessive inheritanceBradykinesiaDysarthriaDystonia Disorders
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts
PARK20, an early onset autosomal recessive parkinsonism is due to mutations in the phosphatidylinositol-phosphatase Synaptojanin… Expand
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2019
2019
A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.
BACKGROUND Mutations in the SYNJ1 have been associated with early onset of atypical Parkinson's disease (PARK20). Patients with… Expand
2018
2018
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations
Recently, a new form of autosomal recessive early-onset parkinsonism (PARK20), due to mutations in the gene encoding the… Expand
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Highly Cited
2017
Highly Cited
2017
Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons
Parkinson's disease (PD) is characterized pathologically by the selective loss of substantia nigra (SN) dopaminergic (DAergic… Expand
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Review
2017
Review
2017
The genetic architecture of mitochondrial dysfunction in Parkinson’s disease
Mitochondrial impairment is a well-established pathological pathway implicated in Parkinson’s disease (PD). Defects of the… Expand
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2015
2015
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2… Expand
2015
2015
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers
Hyposmia is a common nonmotor symptom in Parkinson's disease (PD) and has been variably detected in monogenic parkinsonism. SYNJ1… Expand
Highly Cited
2014
Highly Cited
2014
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early… Expand
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2014
2014
The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease
Parkinson’s disease (PD) is a common neurodegenerative disorder that is caused, in some cases, by mutations in single genes, then… Expand
2011
2011
Rapid transfer of photosynthetic carbon through the plant-soil system in differently managed grasslands
Plant-soil interactions are central to short-term carbon (C) cycling through the rapid transfer of recently assimilated C from… Expand
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