Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. - Wikidata - awgldk - TriplyDB

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

http://www.wikidata.org/entity/Q37180477

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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.Gaucher disease and comorbidities: B-cell malignancy and parkinsonism Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease Developmental exposure to organophosphates triggers transcriptional changes in genes associated with Parkinson's disease in vitro and in vivo How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative Neuropsychiatric characteristics of GBA-associated Parkinson disease.Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathology Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.The risk of Parkinson's disease in type 1 Gaucher disease.Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.Gaucher disease: insights from a rare Mendelian disorder.The link between the GBA gene and parkinsonism Gaucher disease and its treatment options.The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.Genetic and non-genetic determinants of raltegravir penetration into cerebrospinal fluid: a single arm pharmacokinetic study.CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.Exploring the link between glucocerebrosidase mutations and parkinsonism Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders Newborn screening for lysosomal storage disorders in hungary.Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A.The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.Variation in GIGYF2 is not associated with Parkinson disease.The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.Genetic determinants of circulating sphingolipid concentrations in European populations.Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

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P2860

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

http://www.wikidata.org/entity/Q37180477

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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2008年學術文章

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name

Mutations in GBA are associate ...... sceptibility and age at onset.

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Mutations in GBA are associate ...... sceptibility and age at onset.

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type

label

Mutations in GBA are associate ...... sceptibility and age at onset.

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Mutations in GBA are associate ...... sceptibility and age at onset.

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prefLabel

Mutations in GBA are associate ...... sceptibility and age at onset.

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Mutations in GBA are associate ...... sceptibility and age at onset.

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Mutations in GBA are associate ...... sceptibility and age at onset.

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P2093

A Rudolph

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C A Halter

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D K Marek

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J Wojcieszek

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M W Pauciulo

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Parkinson Study Group-PROGENI Investigators

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R F Pfeiffer

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T Foroud

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V E Elsaesser

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W C Nichols

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P2860

“Mini-mental state”

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

Glucocerebrosidase mutations in subjects with parkinsonism

Parkinsonism: onset, progression and mortality

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Development and validation of a geriatric depression screening scale: a preliminary report

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Gaucher's disease: a paradigm for interventional genetics.

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Gaucher disease: complexity in a "simple" disorder.

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310-316

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10.1212/01.WNL.0000327823.81237.D1

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4

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Nathan Pankratz

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23454571

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18987351

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Parkinson's disease

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2677501

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