2024
Validity of the Short Weekly Calendar Planning Activity in patients with Parkinson disease and nonmanifesting LRRK2 and GBA carriers
Schejter‐Margalit T, Binyamin N, Thaler A, Maidan I, Cedarbaum J, Orr‐Urtreger A, Weisz M, Goldstein O, Giladi N, Mirelman A, Kizony R. Validity of the Short Weekly Calendar Planning Activity in patients with Parkinson disease and nonmanifesting LRRK2 and GBA carriers. European Journal Of Neurology 2024, 31: e16327. PMID: 38743695, PMCID: PMC11235808, DOI: 10.1111/ene.16327.Peer-Reviewed Original ResearchKnown-groups validityWeekly Calendar Planning ActivityColor Trails TestActivities of Daily Living ScaleKnown-groups construct validityIdiopathic PDPhysical Activity ScaleDaily Living ScaleEngland Activities of Daily Living ScaleNonmanifesting carriersPD to healthy controlsIdiopathic PD groupMontreal Cognitive AssessmentEcological validitySE-ADLActivity ScaleCompare personsConstruct validityOutcome measuresConvergent validityCognitive AssessmentGBA carriersEngland ActivitiesParkinson's diseaseCognitive tests
2021
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource
Iwaki H, Leonard H, Makarious M, Bookman M, Landin B, Vismer D, Casey B, Gibbs J, Hernandez D, Blauwendraat C, Vitale D, Song Y, Kumar D, Dalgard C, Sadeghi M, Dong X, Misquitta L, Scholz S, Scherzer C, Nalls M, Biswas S, Singleton A, Associates U, Group A, consortium A. Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. Movement Disorders 2021, 36: 1795-1804. PMID: 33960523, PMCID: PMC8453903, DOI: 10.1002/mds.28549.Peer-Reviewed Original ResearchConceptsWhole-genome sequencing dataSequence dataAnalysis of whole-genome sequencing dataParkinson's Disease programPolygenic risk scoresDiagnosis of participantsIdiopathic PD groupAshkenazi Jewish ancestryEvidence of dopamine deficitRNA expression dataDemocratize data accessDisease programsExpression dataCohort studyGBA variantsRisk scoreJoint genotypesPathogenic variantsPD research communityParkinson's diseaseGenetic componentLRRK2 variantsJewish ancestryPD subjectsCohort
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