Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. - Wikidata - awgldk - TriplyDB

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

http://www.wikidata.org/entity/Q37385032

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Visual dysfunction in Parkinson's disease Exploring the Effects of Genetic Variants on Clinical Profiles of Parkinson's Disease Assessed by the Unified Parkinson's Disease Rating Scale and the Hoehn-Yahr Stage Neuropsychiatric characteristics of GBA-associated Parkinson disease.Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data.LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives Genetic markers of Restless Legs Syndrome in Parkinson disease Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.The Parkinson's Disease-Associated Mutation LRRK2-G2019S Impairs Synaptic Plasticity in Mouse Hippocampus.Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations Novel recruitment strategy to enrich for LRRK2 mutation carriers Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation.REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.Estimation of genetic risk function with covariates in the presence of missing genotypes.A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers.Clinical Features of LRRK2 Carriers with Parkinson's Disease.Ser(P)-1292 LRRK2 in urinary exosomes is elevated in idiopathic Parkinson's disease.Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease.Increased peripheral inflammation in asymptomatic leucine-rich repeat kinase 2 mutation carriers.Arm swing as a potential new prodromal marker of Parkinson's disease.DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.Inventory of real world data sources in Parkinson's disease.Elevated LRRK2 autophosphorylation in brain-derived and peripheral exosomes in LRRK2 mutation carriers.Progression in the LRRK2-Asssociated Parkinson Disease Population.Intact working memory in non-manifesting LRRK2 carriers--an fMRI study.The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study.Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls.Clinical Heterogeneity Among Variants in Parkinson's Disease: A Meta-Analysis Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

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Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

http://www.wikidata.org/entity/Q37385032

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

@tr

scientific article published on 15 October 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@en

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@nl

type

label

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@en

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@nl

prefLabel

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@en

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

@nl

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Movement Disorders

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Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

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Anat Bar Shira

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Anat Mirelman

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Andres Deik

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Ann L Hunt

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Avner Thaler

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Blair Ford

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Brooke Johannes

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Cheryl Waters

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Christina Palmese

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Deborah Raymond

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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment

Accuracy of family history data on Parkinson's disease.

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease

Changes in motor subtype and risk for incident dementia in Parkinson's disease.

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

Gender differences in the risk of familial parkinsonism: beyond LRRK2?

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10.1002/MDS.25647

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14

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28

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Matthew J Barrett

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2013-10-15T00:00:00Z

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24243757

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Parkinson's disease

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