Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. - sprookjes - yvandenbroek - TriplyDB

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

http://www.wikidata.org/entity/Q48298527

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alpha-Synuclein and neuronal cell death Parkinson's disease: from monogenic forms to genetic susceptibility factors Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update α-Synuclein propagates from mouse brain to grafted dopaminergic neurons and seeds aggregation in cultured human cells.Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders Genetics of Parkinson's disease Genetically engineered mouse models of Parkinson's disease Alpha-synuclein biology in Lewy body diseases Genetics of Parkinson's disease - a clinical perspective Alpha-synuclein cell-to-cell transfer and seeding in grafted dopaminergic neurons in vivo Elevated α-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells The contribution of alpha synuclein to neuronal survival and function - Implications for Parkinson's disease Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance Identification of TMEM230 mutations in familial Parkinson's disease Targeting the intrinsically disordered structural ensemble of α-synuclein by small molecules as a potential therapeutic strategy for Parkinson's disease Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.α-Synuclein mutations cluster around a putative protein loop.Axon degeneration and PGC-1α-mediated protection in a zebrafish model of α-synuclein toxicity Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.Microglia acquire distinct activation profiles depending on the degree of alpha-synuclein neuropathology in a rAAV based model of Parkinson's disease.Rationale for therapeutic silencing of alpha-synuclein in Parkinson's disease Structure, Distribution, and Genetic Profile of α-Synuclein and Their Potential Clinical Application in Parkinson's Disease.The neurobiological basis of cognitive impairment in Parkinson's disease.Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease.Towards translational therapies for multiple system atrophy Levels of cerebrospinal fluid α-synuclein oligomers are increased in Parkinson's disease with dementia and dementia with Lewy bodies compared to Alzheimer's disease Progressive neurodegeneration or endogenous compensation in an animal model of Parkinson's disease produced by decreasing doses of alpha-synuclein.Parkinson's disease: insights from pathways.Orchestrated increase of dopamine and PARK mRNAs but not miR-133b in dopamine neurons in Parkinson's disease.Region-specific tauopathy and synucleinopathy in brain of the alpha-synuclein overexpressing mouse model of Parkinson's disease Copy number variation in human health, disease, and evolution.A soluble α-synuclein construct forms a dynamic tetramer.The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.Multiple system atrophy as emerging template for accelerated drug discovery in α-synucleinopathies Parkinson's disease: Exit toxins, enter genetics The mitochondrial chaperone protein TRAP1 mitigates α-Synuclein toxicity Alpha-synuclein mutations impair axonal regeneration in models of Parkinson's disease.The diagnosis of young-onset dementia.

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P2860

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

http://www.wikidata.org/entity/Q48298527

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