3541 - 3550 of 8823 Results
Title
Year
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OPENTitle: Impact ofGBA1variants on long-term clinical progression and mortality in incident Parkinson’s diseaseJournal Name: Journal of Neurology, Neurosurgery & PsychiatryPublisher: BMJVol: 91Issue #: 7Start Page: 695End Page: 702Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1136/jnnp-2020-322857Best OA location URL: https://jnnp.bmj.com/content/jnnp/91/7/695.full.pdfCitation Count: 91
- Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease2021OPENTitle: Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s diseaseJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 7Issue #: 1Start Page: 39End Page: 39Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-021-00182-xBest OA location URL: https://www.nature.com/articles/s41531-021-00182-x.pdfCitation Count: 30
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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: 108
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OPENTitle: Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJournal Name: NeuronPublisher: Elsevier BVVol: 109Issue #: 3Start Page: 448End Page: 460.e4Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neuron.2020.11.005Best OA location URL: https://hdl.handle.net/2292/65532Citation Count: 82
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OPENTitle: Dysregulated Wnt and NFAT signaling in a Parkinson’s disease LRRK2 G2019S knock-in modelJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 14Issue #: 1Start Page: 12393End Page: 12393Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41598-024-63130-8Best OA location URL: https://www.nature.com/articles/s41598-024-63130-8.pdfCitation Count: 15
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OPENTitle: Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 6Issue #: 6Start Page: fcae377End Page: fcae377Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae377Best OA location URL: https://doi.org/10.1093/braincomms/fcae377Citation Count: 6
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OPENTitle: Parkinson’s disease neurons exhibit alterations in mitochondrial quality control proteinsJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 9Issue #: 1Start Page: 120End Page: 120Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-023-00564-3Best OA location URL: https://www.nature.com/articles/s41531-023-00564-3.pdfCitation Count: 43
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OPENTitle: Alzheimer's Disease Sequencing Project release 4 whole genome sequencing datasetJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 21Issue #: 5Start Page: e70237End Page: e70237Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc, cc-by-ncDOI - Digital Object Identifier: 10.1002/alz.70237Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.70237Citation Count: 14
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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-by, cc-byDOI - Digital Object Identifier: 10.1016/j.gim.2025.101506Best OA location URL: https://doi.org/10.1016/j.gim.2025.101506Citation Count: 2
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OPENTitle: Optical Structural Analysis of Individual α‐Synuclein OligomersJournal Name: Angewandte ChemiePublisher: WileyVol: 130Issue #: 18Start Page: 4980End Page: 4984Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ange.201710779Best OA location URL: https://doi.org/10.1002/ange.201710779Citation Count: 0