6281 - 6290 of 6433 Results
Title
Year
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OPENTitle: Excessive burden of lysosomal storage disorder gene variants in Parkinson’s diseaseJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 140Issue #: 12Start Page: 3191End Page: 3203Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awx285Best OA location URL: https://academic.oup.com/brain/article-pdf/140/12/3191/24174748/awx285.pdfCitation Count: 413
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OPENTitle: The Liquid State of RIM1α and RBP Condensates is Maintained by LipidsJournal Name: ACS NanoPublisher: American Chemical Society (ACS)Vol: 19Issue #: 48Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1021/acsnano.5c07661Best OA location URL: https://doi.org/10.1021/acsnano.5c07661Citation Count: 0
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OPENTitle: New Developments in Cholinergic Imaging in Alzheimer and Lewy Body DisordersJournal Name: Current Behavioral Neuroscience ReportsPublisher: Springer Science and Business Media LLCVol: 7Issue #: 4Start Page: 278End Page: 286Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s40473-020-00221-6Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7992054Citation Count: 8
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OPENTitle: Normative vs. patient-specific brain connectivity in deep brain stimulationJournal Name: NeuroImagePublisher: Elsevier BVVol: 224Issue #:Start Page: 117307End Page: 117307Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.neuroimage.2020.117307Best OA location URL: https://doi.org/10.1016/j.neuroimage.2020.117307Citation Count: 121
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders2024OPENTitle: The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 8Start Page: 2775End Page: 2790Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae056Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae056/56907442/awae056.pdfCitation Count: 7
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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: 72
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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
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OPENTitle: Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeJournal Name: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePublisher: Elsevier BVVol: 1872Issue #: 4Start Page: 168184End Page: 168184Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.bbadis.2026.168184Best OA location URL: https://doi.org/10.1016/j.bbadis.2026.168184Citation Count: 0
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OPENTitle: MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathyJournal Name: The American Journal of Human GeneticsPublisher: Elsevier BVVol: 113Issue #: 2Start Page: 380End Page: 391Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.ajhg.2025.12.015Best OA location URL: https://doi.org/10.1016/j.ajhg.2025.12.015Citation Count: 0
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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