2581 - 2590 of 6230 Results
Title
Year
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OPENTitle: Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in DystoniaJournal Name: Movement DisordersPublisher: WileyVol: 40Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/mds.30066Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/11832811Citation Count: 3
- Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease2025OPENTitle: Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s diseaseJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 11Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41531-025-00881-9Best OA location URL: https://www.nature.com/articles/s41531-025-00881-9.pdfCitation Count: 8
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OPENTitle: Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease riskJournal Name: Nature AgingPublisher: Springer Science and Business Media LLCVol: 5Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1038/s43587-024-00760-7Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/11839463Citation Count: 5
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OPENTitle: Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brainJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 122Issue #: 5Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2412029122Best OA location URL: https://pnas.org/doi/pdf/10.1073/pnas.2412029122Citation Count: 3
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OPENTitle: Sex‐specific mechanisms of cerebral microvascular BKCa dysfunction in a mouse model of Alzheimer's diseaseJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 21Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/alz.14438Best OA location URL: https://alz-journals.onlinelibrary.wiley.com/doi/pdf/10.1002/alz.14438Citation Count: 1
- Psychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementia2024OPENTitle: Psychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementiaJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 21Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/alz.14448Best OA location URL: https://escholarship.org/content/qt0tm1495f/qt0tm1495f.pdfCitation Count: 0
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OPENTitle: [125I]IPPI for Tau Imaging: Binding Studies in Postmortem Human Alzheimer's Disease Hippocampus‐Subiculum and Evaluation of Drug EffectsJournal Name: SynapsePublisher: WileyVol: 79Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/syn.70024Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/syn.70024Citation Count: 0
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OPENTitle: Reduction in [18F]Nifene Binding, a PET imaging Probe for α4β2* Nicotinic acetylcholinergic receptors in Hippocampus-Subiculum of postmortem human Alzheimer’s disease brainJournal Name: Brain ResearchPublisher: Elsevier BVVol: 1857Issue #:Start Page: 149600End Page: 149600Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.brainres.2025.149600Best OA location URL: https://doi.org/10.1016/j.brainres.2025.149600Citation Count: 1
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OPENTitle: ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyJournal Name: Genetics in MedicinePublisher: Elsevier BVVol: 27Issue #: 9Start Page: 101506End Page: 101506Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.gim.2025.101506Best OA location URL: https://doi.org/10.1016/j.gim.2025.101506Citation Count: 0
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OPENTitle: Interpretable deep learning framework for understanding molecular changes in human brains with Alzheimer’s disease: implications for microglia activation and sex differencesJournal Name: npj AgingPublisher: Springer Science and Business Media LLCVol: 11Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1038/s41514-025-00258-5Best OA location URL: https://www.nature.com/articles/s41514-025-00258-5.pdfCitation Count: 0