Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. - Wikidata - wikimedia - TriplyDB

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

http://www.wikidata.org/entity/Q45039594

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration.Parkin-dependent degradation of the F-box protein Fbw7β promotes neuronal survival in response to oxidative stress by stabilizing Mcl-1 Dopamine covalently modifies and functionally inactivates parkin Analyzing the roles of multi-functional proteins in cells: The case of arrestins and GRKs The genetics and neuropathology of Parkinson's disease Pathologic and therapeutic implications for the cell biology of parkin Genetics of Parkinson's disease - a clinical perspective Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts Modelling idiopathic Parkinson disease as a complex illness can inform incidence rate in healthy adults: the PREDIGT score In Silico Analysis of SNPs in PARK2 and PINK1 Genes That Potentially Cause Autosomal Recessive Parkinson Disease.Parkin disease: a clinicopathologic entity?The curious case of phenocopies in families with genetic Parkinson's disease.LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary.Bacterial artificial chromosome transgenic mice expressing a truncated mutant parkin exhibit age-dependent hypokinetic motor deficits, dopaminergic neuron degeneration, and accumulation of proteinase K-resistant alpha-synuclein.Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype.Olfaction in Parkin carriers in Chinese patients with Parkinson disease Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.Parkinson's disease: insights from pathways.REM sleep behavior disorder: Updated review of the core features, the REM sleep behavior disorder-neurodegenerative disease association, evolving concepts, controversies, and future directions.HSPA1A-independent suppression of PARK2 C289G protein aggregation by human small heat shock proteins Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.The genetics of Parkinson disease.Genetic neuropathology of Parkinson's disease.Ubiquitination increases parkin activity to promote autophagic α-synuclein clearance.A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study.Understanding the susceptibility of dopamine neurons to mitochondrial stressors in Parkinson's disease.Recessive Parkinson's disease.Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease α-Synuclein oligomers and clinical implications for Parkinson disease.The parkin protein as a therapeutic target in Parkinson's disease.Parkin disease and the Lewy body conundrum Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.

P2860

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P2860

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

http://www.wikidata.org/entity/Q45039594

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

@zh-hant

name

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@en

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@nl

type

label

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@en

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@nl

prefLabel

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@en

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@nl

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P1433

Annals of Neurology

P1476

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

@en

P2093

Cordula Eskelson

http://www.w3.org/2001/XMLSchema#string

Francesco Scaravilli

http://www.w3.org/2001/XMLSchema#string

Imelda Pepivani

http://www.w3.org/2001/XMLSchema#string

Katja Hedrich

http://www.w3.org/2001/XMLSchema#string

Melissa Gonzales-McNeal

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Michael G Schlossmacher

http://www.w3.org/2001/XMLSchema#string

Patricia L Kramer

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Peter P Pramstaller

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Rüdiger Hilker

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Susanna Adel

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P2860

A comparison of clinical and pathological features of young- and old-onset Parkinson's disease.

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms.

Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies.

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

P304

411-422

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scholarly article

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10.1002/ANA.20587

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3

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58

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Christine Klein

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2005-09-01T00:00:00Z

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P698

16130111

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P921

Parkinson's disease