6251 - 6260 of 6433 Results
Title
Year
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OPENTitle: Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signalingJournal Name: Molecular NeurodegenerationPublisher: Springer Science and Business Media LLCVol: 12Issue #: 1Start Page: 9End Page: 9Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13024-017-0153-4Best OA location URL: https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/s13024-017-0153-4Citation Count: 52
- Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies2016OPENTitle: Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodiesJournal Name: Neurobiology of AgingPublisher: Elsevier BVVol: 49Issue #:Start Page: 214.e13End Page: 214.e15Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2016.08.023Best OA location URL: https://kclpure.kcl.ac.uk/ws/files/57187547/1_s2.0_S0197458016302019_main.pdfCitation Count: 14
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OPENTitle: Weighted Protein Interaction Network Analysis of Frontotemporal DementiaJournal Name: Journal of Proteome ResearchPublisher: American Chemical Society (ACS)Vol: 16Issue #: 2Start Page: 999End Page: 1013Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.jproteome.6b00934Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.jproteome.6b00934Citation Count: 41
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OPENTitle: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderJournal Name: Clinical GeneticsPublisher: WileyVol: 102Issue #: 2Start Page: 98End Page: 109Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1111/cge.14165Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14165Citation Count: 16
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OPENTitle: Single-cell multiomic analyses sheds light on mitochondrial mutational selectionJournal Name: Nature GeneticsPublisher: Springer Science and Business Media LLCVol: 55Issue #: 7Start Page: 1083End Page: 1085Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41588-023-01436-5Best OA location URL: https://doi.org/10.1038/s41588-023-01436-5Citation Count: 1
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OPENTitle: Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesJournal Name: Annals of NeurologyPublisher: WileyVol: 88Issue #: 5Start Page: 867End Page: 877Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ana.25879Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879Citation Count: 93
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OPENTitle: Dissociable effects of dopaminergic medications on depression symptom dimensions in Parkinson diseaseJournal Name: Nature Mental HealthPublisher: Springer Science and Business Media LLCVol: 2Issue #: 8Start Page: 916End Page: 923Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s44220-024-00256-8Best OA location URL: https://www.nature.com/articles/s44220-024-00256-8.pdfCitation Count: 6
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OPENTitle: The effect of LRRK2 loss-of-function variants in humansJournal Name: Nature MedicinePublisher: Springer Science and Business Media LLCVol: 26Issue #: 6Start Page: 869End Page: 877Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41591-020-0893-5Best OA location URL: https://www.nature.com/articles/s41591-020-0893-5.pdfCitation Count: 103
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OPENTitle: Label-Free Characterization of Amyloids and Alpha-Synuclein Polymorphs by Exploiting Their Intrinsic Fluorescence PropertyJournal Name: Analytical ChemistryPublisher: American Chemical Society (ACS)Vol: 94Issue #: 13Start Page: 5367End Page: 5374Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1021/acs.analchem.1c05651Best OA location URL: https://doi.org/10.1021/acs.analchem.1c05651Citation Count: 17
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OPENTitle: Optical Structural Analysis of Individual α‐Synuclein OligomersJournal Name: Angewandte Chemie International EditionPublisher: WileyVol: 57Issue #: 18Start Page: 4886End Page: 4890Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/anie.201710779Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/anie.201710779Citation Count: 42