301 - 310 of 8436 Results
Title
Year
- 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/awae363Citation Count: 0
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OPENTitle: Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairmentJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 7Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae453Best OA location URL: https://doi.org/10.1093/braincomms/fcae453Citation Count: 2
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OPENTitle: Enhanced detection of distinct honeycomb-structured neuronal SMARCC2 cytobodies in Parkinson’s Disease via Cyclic Heat-Induced Epitope Retrieval (CHIER)Journal Name: PLOS ONEPublisher: Public Library of Science (PLoS)Vol: 19Issue #: 12Start Page: e0315183End Page: e0315183Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1371/journal.pone.0315183Citation Count: 0
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OPENTitle: PINK1 is a target of T cell responses in Parkinson's diseaseJournal Name: Journal of Clinical InvestigationPublisher: American Society for Clinical InvestigationVol: 135Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1172/jci180478Best OA location URL: http://www.jci.org/articles/view/180478/files/pdfCitation Count: 0
- Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM502024OPENTitle: Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Journal Name: eLifePublisher: eLife Sciences Publications, LtdVol: 13Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.7554/elife.99914.3Citation Count: 0
- Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates2024OPENTitle: Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging CorrelatesJournal 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.30081Best OA location URL: https://doi.org/10.1002/mds.30081Citation Count: 0
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RESTRICTEDTitle: A role for lysosomal calcium channels in mitigating mitochondrial damage and oxidative stressJournal Name: Cell CalciumPublisher: Elsevier BVVol: 125Issue #:Start Page: 102986End Page: 102986Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.ceca.2024.102986Citation Count: 0
- Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders2024OPENTitle: Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disordersJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1093/brain/awae402Citation Count: 1
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OPENTitle: Mitochondrial oxidant stress promotes α-synuclein aggregation and spreading in mice with mutated glucocerebrosidaseJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-024-00842-8Citation Count: 1
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OPENTitle: –Structural Changes in Early-stage Parkinson’s Disease with Resting Tremor at Node, Edge and Network LevelJournal Name: Brain Research BulletinPublisher: Elsevier BVVol: 220Issue #:Start Page: 111169End Page: 111169Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.brainresbull.2024.111169Citation Count: 0