331 - 340 of 5662 Results
Title
Year
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome2024OPENTitle: Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 5Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae010Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae010/55676562/awae010.pdfCitation Count: 4
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OPENTitle: Immunological shifts during early-stage Parkinson’s disease identified with DNA methylation data on longitudinally collected blood samplesJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41531-023-00626-6Best OA location URL: https://www.nature.com/articles/s41531-023-00626-6.pdfCitation Count: 4
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OPENTitle: Systems-level analyses dissociate genetic regulators of reactive oxygen species and energy productionJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 121Issue #: 3Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2307904121Best OA location URL: https://www.pnas.org/doi/pdf/10.1073/pnas.2307904121Citation Count: 1
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OPENTitle: Disruption of lysosomal proteolysis in astrocytes facilitates midbrain organoid proteostasis failure in an early-onset Parkinson’s disease modelJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 15Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41467-024-44732-2Best OA location URL: https://www.nature.com/articles/s41467-024-44732-2.pdfCitation Count: 9
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OPENTitle: Neural heterogeneity controls computations in spiking neural networksJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 121Issue #: 3Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2311885121Best OA location URL: https://www.pnas.org/doi/pdf/10.1073/pnas.2311885121Citation Count: 6
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OPENTitle: Toward the quantification of α-synuclein aggregates with digital seed amplification assaysJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 121Issue #: 3Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1073/pnas.2312031121Citation Count: 3
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OPENTitle: A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cellsJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41531-023-00624-8Best OA location URL: https://www.nature.com/articles/s41531-023-00624-8.pdfCitation Count: 3
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OPENTitle: Analysis of rare Parkinson’s disease variants in millions of peopleJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41531-023-00608-8Best OA location URL: https://www.nature.com/articles/s41531-023-00608-8.pdfCitation Count: 4
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OPENTitle: Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertensionJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 15Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41467-023-44683-0Best OA location URL: https://www.nature.com/articles/s41467-023-44683-0.pdfCitation Count: 1
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OPENTitle: Decreasing the intrinsically disordered protein α-synuclein levels by targeting its structured mRNA with a ribonuclease-targeting chimeraJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 121Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1073/pnas.2306682120Citation Count: 6