6001 - 6050 of 6456 Results
Title
Year
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OPENTitle: Early α-synuclein aggregation decreases corticostriatal glutamate drive and synapse densityJournal Name: Neurobiology of DiseasePublisher: Elsevier BVVol: 210Issue #:Start Page: 106918End Page: 106918Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.nbd.2025.106918Best OA location URL: https://doi.org/10.1016/j.nbd.2025.106918Citation Count: 9
- Higher Risk, Higher Reward? Self‐Reported Effects of Real‐World Cannabis Use in Parkinson's Disease2022OPENTitle: Higher Risk, Higher Reward? Self‐Reported Effects of Real‐World Cannabis Use in Parkinson's DiseaseJournal Name: Movement Disorders Clinical PracticePublisher: WileyVol: 9Issue #: 3Start Page: 340End Page: 350Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1002/mdc3.13414Best OA location URL: https://doi.org/10.1002/mdc3.13414Citation Count: 22
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OPENTitle: HFE H63D Limits Nigral Vulnerability to Paraquat in Agricultural WorkersJournal Name: Toxicological SciencesPublisher: Oxford University Press (OUP)Vol: 181Issue #: 1Start Page: 47End Page: 57Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/toxsci/kfab020Best OA location URL: https://academic.oup.com/toxsci/article-pdf/181/1/47/37464453/kfab020.pdfCitation Count: 6
- Temporal discrimination threshold and blink reflex recovery cycle in cervical dystonia – two sides of the same coin?2019OPENTitle: Temporal discrimination threshold and blink reflex recovery cycle in cervical dystonia – two sides of the same coin?Journal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 68Issue #:Start Page: 4End Page: 7Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.09.028Citation Count: 7
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OPENTitle: Heat Shock Protein 70 as a Sex-Skewed Regulator of α-SynucleinopathyJournal Name: NeurotherapeuticsPublisher: Elsevier BVVol: 18Issue #: 4Start Page: 2541End Page: 2564Publication Date:Open Access(OA) Status: OPENLicense: other-oaDOI - Digital Object Identifier: 10.1007/s13311-021-01114-6Best OA location URL: https://link.springer.com/content/pdf/10.1007/s13311-021-01114-6.pdfCitation Count: 10
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OPENTitle: Crohn’s and Parkinson’s Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex VivoJournal Name: Journal of Neuroimmune PharmacologyPublisher: Springer Science and Business Media LLCVol: 15Issue #: 4Start Page: 794End Page: 800Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s11481-020-09909-8Best OA location URL: https://link.springer.com/content/pdf/10.1007/s11481-020-09909-8.pdfCitation Count: 24
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OPENTitle: Altered Differentiation Potential of Gaucher’s Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin DownregulationJournal Name: Stem Cell ReportsPublisher: Elsevier BVVol: 9Issue #: 6Start Page: 1853End Page: 1867Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.stemcr.2017.10.029Best OA location URL: http://www.cell.com/article/S2213671117304848/pdfCitation Count: 54
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OPENTitle: Revealing and Exploiting the Biochemistry of O -GlcNAc through Protein SemisynthesisJournal Name: BiochemistryPublisher: American Chemical Society (ACS)Vol: 65Issue #: 7Start Page: 801End Page: 811Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1021/acs.biochem.6c00095Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC13035441/Citation Count: 0
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OPENTitle: Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson’s disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)Journal Name: Stem Cell ResearchPublisher: Elsevier BVVol: 61Issue #:Start Page: 102765End Page: 102765Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.scr.2022.102765Best OA location URL: https://doi.org/10.1016/j.scr.2022.102765Citation Count: 3
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OPENTitle: Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinIONJournal Name: Molecular Genetics & Genomic MedicinePublisher: WileyVol: 7Issue #: 3Start Page: e564End Page: e564Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1002/mgg3.564Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.564Citation Count: 93
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OPENTitle: A comparative study of Lrrk2 function in primary neuronal culturesJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 16Issue #: 10Start Page: 650End Page: 655Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2010.08.018Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/3159957Citation Count: 78
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OPENTitle: Survival and maturation of human induced pluripotent stem cell-derived dopaminergic progenitors in the parkinsonian rat brain is enhanced by transplantation in a neurotrophin-enriched hydrogelJournal Name: Journal of Neural EngineeringPublisher: IOP PublishingVol: 21Issue #: 2Start Page: 024002End Page: 024002Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1088/1741-2552/ad33b2Best OA location URL: https://iopscience.iop.org/article/10.1088/1741-2552/ad33b2/pdfCitation Count: 15
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OPENTitle: Delivery of immunoglobulin G antibodies to the rat nervous system following intranasal administration: Distribution, dose-response, and mechanisms of deliveryJournal Name: Journal of Controlled ReleasePublisher: Elsevier BVVol: 286Issue #:Start Page: 467End Page: 484Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.jconrel.2018.08.006Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7234798Citation Count: 96
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OPENTitle: Tau immunoreactivity in peripheral tissues of human aging and select tauopathiesJournal Name: Neuroscience LettersPublisher: Elsevier BVVol: 696Issue #:Start Page: 132End Page: 139Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neulet.2018.12.031Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7357994Citation Count: 59
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OPENTitle: Efficient cosine-windowed cross-correlation for intermediate deformable image registrationJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 16Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1038/s41598-026-40961-1Best OA location URL: https://www.nature.com/articles/s41598-026-40961-1.pdfCitation Count: 0
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OPENTitle: Protocol to study synapse density or volume—SynDOVE—in brain using confocal microscopy and Imaris three-dimensional surface rendering softwareJournal Name: STAR ProtocolsPublisher: Elsevier BVVol: 7Issue #: 2Start Page: 104465End Page: 104465Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.xpro.2026.104465Best OA location URL: https://doi.org/10.1016/j.xpro.2026.104465Citation Count: 0
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OPENTitle: Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3Journal Name: neurogeneticsPublisher: Springer Science and Business Media LLCVol: 18Issue #: 3Start Page: 121End Page: 133Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s10048-017-0514-8Best OA location URL: https://link.springer.com/content/pdf/10.1007%2Fs10048-017-0514-8.pdfCitation Count: 77
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OPENTitle: UniProtExtractR: an app and R package for easily extracting protein-specific UniProtKB information and fine-tuning organelle resolutionJournal Name: Bioinformatics AdvancesPublisher: Oxford University Press (OUP)Vol: 3Issue #: 1Start Page: vbad157End Page: vbad157Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/bioadv/vbad157Best OA location URL: https://academic.oup.com/bioinformaticsadvances/advance-article-pdf/doi/10.1093/bioadv/vbad157/52713955/vbad157.pdfCitation Count: 1
- Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease2019OPENTitle: Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's diseaseJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 74Issue #:Start Page: 76End Page: 77Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.11.006Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7374981Citation Count: 15
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OPENTitle: Modulatory Effects of Levodopa on Cerebellar Connectivity in Parkinson’s DiseaseJournal Name: The CerebellumPublisher: Springer Science and Business Media LLCVol: 18Issue #: 2Start Page: 212End Page: 224Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s12311-018-0981-yBest OA location URL: https://link.springer.com/content/pdf/10.1007/s12311-018-0981-y.pdfCitation Count: 25
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OPENTitle: Association between Physical Activity, Depression Severity and Parkinson's Symptoms in Older Adults with Parkinson's disease: A Cross-Sectional StudyJournal Name: Annals of Geriatric Medicine and ResearchPublisher: The Korean Geriatrics SocietyVol: 29Issue #: 3Start Page: 360End Page: 367Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.4235/agmr.25.0034Best OA location URL: https://www.e-agmr.org/upload/pdf/agmr-25-0034.pdfCitation Count: 0
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OPENTitle: Deletion of DJ-1 in rats affects protein abundance and mitochondrial function at the synapseJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 13719End Page: 13719Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41598-020-70486-0Best OA location URL: https://www.nature.com/articles/s41598-020-70486-0.pdfCitation Count: 19
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OPENTitle: Association of Structural Measurements of Brain Reserve With Motor Progression in Patients With Parkinson DiseaseJournal Name: NeurologyPublisher: Ovid Technologies (Wolters Kluwer Health)Vol: 99Issue #: 10Start Page: e977End Page: e988Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1212/wnl.0000000000200814Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7613818Citation Count: 16
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OPENTitle: The potential of biomaterials for central nervous system cellular repairJournal Name: Neurochemistry InternationalPublisher: Elsevier BVVol: 144Issue #:Start Page: 104971End Page: 104971Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.neuint.2021.104971Best OA location URL: https://doi.org/10.1016/j.neuint.2021.104971Citation Count: 37
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OPENTitle: Dopamine Receptor D3 Expression Is Altered in CD4+ T-Cells From Parkinson's Disease Patients and Its Pharmacologic Inhibition Attenuates the Motor Impairment in a Mouse ModelJournal Name: Frontiers in ImmunologyPublisher: Frontiers Media SAVol: 10Issue #:Start Page: 981End Page: 981Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.3389/fimmu.2019.00981Best OA location URL: https://www.frontiersin.org/articles/10.3389/fimmu.2019.00981/pdfCitation Count: 57
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OPENTitle: Identification and in vitro characterization of C05-01, a PBB3 derivative with improved affinity for alpha-synucleinJournal Name: Brain ResearchPublisher: Elsevier BVVol: 1749Issue #:Start Page: 147131End Page: 147131Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.brainres.2020.147131Best OA location URL: https://doi.org/10.1016/j.brainres.2020.147131Citation Count: 32
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OPENTitle: Gait variability is linked to the atrophy of the Nucleus Basalis of Meynert and is resistant to STN DBS in Parkinson's diseaseJournal Name: Neurobiology of DiseasePublisher: Elsevier BVVol: 146Issue #:Start Page: 105134End Page: 105134Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.nbd.2020.105134Best OA location URL: https://doi.org/10.1016/j.nbd.2020.105134Citation Count: 45
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OPENTitle: Cerebral white matter rarefaction has both neurodegenerative and vascular causes and may primarily be a distal axonopathyJournal Name: Journal of Neuropathology & Experimental NeurologyPublisher: Oxford University Press (OUP)Vol: 82Issue #: 6Start Page: 457End Page: 466Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/jnen/nlad026Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10209646/pdf/nlad026.pdfCitation Count: 24
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OPENTitle: Is Freezing of Gait in Parkinson's Disease a Result of Multiple Gait Impairments? Implications for TreatmentJournal Name: Parkinson's DiseasePublisher: WileyVol: 2012Issue #:Start Page: 1End Page: 8Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1155/2012/459321Best OA location URL: https://downloads.hindawi.com/journals/pd/2012/459321.pdfCitation Count: 113
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OPENTitle: Protocol of a single group prospective observational study on the diagnostic value of 3T susceptibility weighted MRI of nigrosome-1 in patients with parkinsonian symptoms: the N3iPD study (nigrosomalironimagingin Parkinson’s disease)Journal Name: BMJ OpenPublisher: BMJVol: 7Issue #: 12Start Page: e016904End Page: e016904Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1136/bmjopen-2017-016904Best OA location URL: https://bmjopen.bmj.com/content/bmjopen/7/12/e016904.full.pdfCitation Count: 8
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OPENTitle: Distribution of cholinergic nerve terminals in the aged human brain measured with [18F]FEOBV PET and its correlation with histological dataJournal Name: NeuroImagePublisher: Elsevier BVVol: 269Issue #:Start Page: 119908End Page: 119908Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.neuroimage.2023.119908Best OA location URL: https://ars.els-cdn.com/content/image/1-s2.0-S1053811923000563-ga1_lrg.jpgCitation Count: 24
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OPENTitle: T2-Imaging Changes in the Nigrosome-1 Relate to Clinical Measures of Parkinson’s DiseaseJournal Name: Frontiers in NeurologyPublisher: Frontiers Media SAVol: 7Issue #:Start Page: 174End Page: 174Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.3389/fneur.2016.00174Best OA location URL: https://www.frontiersin.org/articles/10.3389/fneur.2016.00174/pdfCitation Count: 11
- PET imaging of alpha-synuclein: from radiotracer design through in vitro and in vivo translation2026OPENTitle: PET imaging of alpha-synuclein: from radiotracer design through in vitro and in vivo translationJournal Name: European Journal of Nuclear Medicine and Molecular ImagingPublisher: Springer Science and Business Media LLCVol: 53Issue #: 6Start Page: 4211End Page: 4239Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s00259-025-07695-0Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC13121216/Citation Count: 2
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OPENTitle: Reduction in GABAB on glia induce Alzheimer’s disease related changesJournal Name: Brain, Behavior, and ImmunityPublisher: Elsevier BVVol: 110Issue #:Start Page: 260End Page: 275Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.bbi.2023.03.002Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10115139/pdf/nihms-1886012.pdfCitation Count: 18
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OPENTitle: 5-Hydroxy-tryptophan for the treatment of l-DOPA-induced dyskinesia in the rat Parkinson's disease modelJournal Name: Neurobiology of DiseasePublisher: Elsevier BVVol: 60Issue #:Start Page: 108End Page: 114Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.nbd.2013.08.014Best OA location URL: https://doaj.org/article/65cb9c949d0049cbaa552f3b16529335Citation Count: 55
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OPENTitle: Mechanisms of Alpha-Synuclein-Seeded Aggregation in Neurons Revealed by Fluorescence Lifetime ImagingJournal Name: ACS Chemical NeurosciencePublisher: American Chemical Society (ACS)Vol: 16Issue #: 11Start Page: 2128End Page: 2140Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1021/acschemneuro.5c00236Best OA location URL: https://doi.org/10.1021/acschemneuro.5c00236Citation Count: 1
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OPENTitle: Keep calm and beam on? Unmet needs in radiotherapy and deep brain stimulationJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 71Issue #:Start Page: 15End Page: 16Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2020.01.005Best OA location URL: http://www.prd-journal.com/article/S1353802020300055/pdfCitation Count: 2
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OPENTitle: The importance of a healthy mouth in Parkinson's diseaseJournal Name: The LancetPublisher: Elsevier BVVol: 402Issue #: 10411Start Page: 1419End Page: 1420Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/s0140-6736(23)01466-6Best OA location URL: http://www.thelancet.com/article/S0140673623014666/pdfCitation Count: 6
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OPENTitle: Cognitive processes that indirectly affect olfactory dysfunction in Parkinson's diseaseJournal Name: Clinical Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 1Issue #:Start Page: 13End Page: 20Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.prdoa.2019.07.003Best OA location URL: https://doi.org/10.1016/j.prdoa.2019.07.003Citation Count: 7
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OPENTitle: Inter-assay and Inter-site Performance of Alpha-Synuclein Seed Amplification Assays in Synucleinopathies: A Multicenter 2 × 2 Protocol ComparisonJournal Name: Neurology and TherapyPublisher: Springer Science and Business Media LLCVol:Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s40120-026-00965-5Best OA location URL: https://link.springer.com/content/pdf/10.1007/s40120-026-00965-5.pdfCitation Count: 0
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OPENTitle: Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's diseaseJournal Name: Neurobiology of AgingPublisher: Elsevier BVVol: 88Issue #:Start Page: 156.e11End Page: 156.e14Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2019.12.011Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7085451Citation Count: 20
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OPENTitle: Characterization of a Cul9–Parkin double knockout mouse model for Parkinson’s diseaseJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 16886End Page: 16886Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41598-020-73854-yBest OA location URL: https://www.nature.com/articles/s41598-020-73854-y.pdfCitation Count: 9
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OPENTitle: Inhibitory basal ganglia nuclei differentially innervate pedunculopontine nucleus subpopulations and evoke differential motor and valence behaviorsJournal 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.102308.3Best OA location URL: https://doi.org/10.7554/elife.102308.3Citation Count: 1
- Aberrant striatal firing mediates impulsive decision-making in a mouse model of Parkinson's disease2025OPENTitle: Aberrant striatal firing mediates impulsive decision-making in a mouse model of Parkinson's diseaseJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 149Issue #: 1Start Page: 238End Page: 251Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awaf312Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf312/64204407/awaf312.pdfCitation Count: 2
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OPENTitle: Enhanced Parkinson’s Disease Tremor Severity Classification by Combining Signal Processing with Resampling TechniquesJournal Name: SN Computer SciencePublisher: Springer Science and Business Media LLCVol: 3Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s42979-021-00953-6Best OA location URL: https://link.springer.com/content/pdf/10.1007/s42979-021-00953-6.pdfCitation Count: 26
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OPENTitle: Transglutaminase 2 Depletion Attenuates α-Synuclein Mediated Toxicity in MiceJournal Name: NeurosciencePublisher: Elsevier BVVol: 441Issue #:Start Page: 58End Page: 64Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.neuroscience.2020.05.047Best OA location URL: https://doi.org/10.1016/j.neuroscience.2020.05.047Citation Count: 22
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OPENTitle: LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's diseaseJournal Name: Neurobiology of AgingPublisher: Elsevier BVVol: 103Issue #:Start Page: 142.e1End Page: 142.e5Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2021.02.018Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/8178224Citation Count: 25
- Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism2020OPENTitle: Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonismJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 72Issue #:Start Page: 75End Page: 79Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2020.02.003Best OA location URL: http://hdl.handle.net/11577/3350481Citation Count: 21
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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: Amygdalar and hippocampal volume loss in limbic-predominant age-related TDP-43 encephalopathyJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 11Start Page: 3913End Page: 3923Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/brain/awaf201Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf201/63485731/awaf201.pdfCitation Count: 11