7641 - 7650 of 8818 Results
Title
Year
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OPENTitle: Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expressionJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 25End Page: 25Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-024-00636-yBest OA location URL: https://www.nature.com/articles/s41531-024-00636-y.pdfCitation Count: 16
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder2024RESTRICTEDTitle: Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: RESTRICTEDLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae363Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae363/61226784/awae363.pdfCitation Count: 0
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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
- Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies2024OPENTitle: Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathiesJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 6Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae163Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae163/58040219/fcae163.pdfCitation Count: 1
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OPENTitle: Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencingJournal Name: Genome BiologyPublisher: Springer Science and Business Media LLCVol: 18Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13059-017-1147-9Best OA location URL: https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-017-1147-9Citation Count: 114
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OPENTitle: Decreased Water Mobility Contributes To Increased α‐Synuclein Aggregation**Journal Name: Angewandte ChemiePublisher: WileyVol: 135Issue #: 7Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ange.202212063Best OA location URL: https://doi.org/10.1002/ange.202212063Citation Count: 4
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OPENTitle: Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysisJournal Name: BMC GenomicsPublisher: Springer Science and Business Media LLCVol: 19Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s12864-018-4804-9Best OA location URL: https://bmcgenomics.biomedcentral.com/track/pdf/10.1186/s12864-018-4804-9.pdfCitation Count: 42
- Gait Progression Over 6 Years in Parkinson’s Disease: Effects of Age, Medication, and Pathology2020OPENTitle: Gait Progression Over 6 Years in Parkinson’s Disease: Effects of Age, Medication, and PathologyJournal Name: Frontiers in Aging NeurosciencePublisher: Frontiers Media SAVol: 12Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.3389/fnagi.2020.577435Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnagi.2020.577435/pdfCitation Count: 71
- Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly2023OPENTitle: Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyJournal Name: European Journal of Human GeneticsPublisher: Springer Science and Business Media LLCVol: 32Issue #: 1Start Page: 52End Page: 60Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41431-023-01461-2Best OA location URL: https://www.nature.com/articles/s41431-023-01461-2.pdfCitation Count: 9