7251 - 7300 of 8816 Results
Title
Year
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RESTRICTEDTitle: A late-onset neurological disorder: is progression inevitable?Journal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 108Issue #:Start Page: 105092End Page: 105092Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2022.06.014Citation Count: 0
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OPENTitle: Infrared nanoimaging of neuronal ultrastructure and nanoparticle interaction with cellsJournal Name: NanoscalePublisher: Royal Society of Chemistry (RSC)Vol: 16Issue #: 12Start Page: 6190End Page: 6198Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1039/d3nr04948eBest OA location URL: https://pubs.rsc.org/en/content/articlepdf/2024/nr/d3nr04948eCitation Count: 1
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OPENTitle: Snca -GFP Knock-In Mice Reflect Patterns of Endogenous Expression and Pathological SeedingJournal Name: eneuroPublisher: Society for NeuroscienceVol: 7Issue #: 4Start Page: ENEURO.0007End Page: 20.2020Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1523/eneuro.0007-20.2020Best OA location URL: https://www.eneuro.org/content/eneuro/7/4/ENEURO.0007-20.2020.full.pdfCitation Count: 21
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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: 18
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OPENTitle: Video-based Parkinson’s disease assessments in a nationwide cohort of Fox Insight participantsJournal Name: Clinical Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 4Issue #:Start Page: 100094End Page: 100094Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.prdoa.2021.100094Best OA location URL: https://doi.org/10.1016/j.prdoa.2021.100094Citation Count: 27
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OPENTitle: 14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shorteningJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 25Issue #: 1Start Page: 109End Page: 122Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddv453Best OA location URL: https://academic.oup.com/hmg/article-pdf/25/1/109/7145789/ddv453.pdfCitation Count: 78
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RESTRICTEDTitle: Reply to: “Early Indian Age at Onset of Parkinson's: A Case for a Gene‐Environment Lens”Journal Name: Movement DisordersPublisher: WileyVol: 40Issue #: 10Start Page:End Page:Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1002/mds.70053Citation Count: 0
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OPENTitle: Genetic variants related to urate and risk of Parkinson's diseaseJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 53Issue #:Start Page: 4End Page: 9Publication Date:Open Access(OA) Status: OPENLicense: other-oaDOI - Digital Object Identifier: 10.1016/j.parkreldis.2018.04.031Best OA location URL: http://hdl.handle.net/10468/6191Citation Count: 6
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OPENTitle: Parkinson’s Patients’ Tolerance for Risk and Willingness to Wait for Potential Benefits of Novel Neurostimulation Devices: A Patient-Centered Threshold Technique StudyJournal Name: MDM Policy & PracticePublisher: SAGE PublicationsVol: 6Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1177/2381468320978407Best OA location URL: https://journals.sagepub.com/doi/pdf/10.1177/2381468320978407Citation Count: 22
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OPENTitle: Cross-platform comparison of highly sensitive immunoassay technologies for cytokine markers: Platform performance in post-traumatic stress disorder and Parkinson’s diseaseJournal Name: Cytokine: XPublisher: Elsevier BVVol: 2Issue #: 2Start Page: 100027End Page: 100027Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.cytox.2020.100027Best OA location URL: https://doi.org/10.1016/j.cytox.2020.100027Citation Count: 42
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OPENTitle: LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neuronsJournal Name: Molecular PsychiatryPublisher: Springer Science and Business Media LLCVol: 30Issue #: 10Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41380-025-03030-zBest OA location URL: https://www.nature.com/articles/s41380-025-03030-z.pdfCitation Count: 1
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OPENTitle: Cholinergic Denervation Patterns Across Cognitive Domains in Parkinson's DiseaseJournal Name: Movement DisordersPublisher: WileyVol: 36Issue #: 3Start Page: 642End Page: 650Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/mds.28360Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28360Citation Count: 78
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OPENTitle: Palliative Care and Parkinson's Disease: Time to Move Beyond CancerJournal Name: Movement DisordersPublisher: WileyVol: 36Issue #: 6Start Page: 1325End Page: 1329Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/mds.28556Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/8217287Citation Count: 22
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OPENTitle: Multi-objective particle swarm optimization for postoperative deep brain stimulation targeting of subthalamic nucleus pathwaysJournal Name: Journal of Neural EngineeringPublisher: IOP PublishingVol: 15Issue #: 6Start Page: 066020End Page: 066020Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1088/1741-2552/aae12fCitation Count: 37
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OPENTitle: Increased iron-deposition in lateral-ventral substantia nigra pars compacta: A promising neuroimaging marker for Parkinson's diseaseJournal Name: NeuroImage: ClinicalPublisher: Elsevier BVVol: 28Issue #:Start Page: 102391End Page: 102391Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.nicl.2020.102391Best OA location URL: https://doi.org/10.1016/j.nicl.2020.102391Citation Count: 35
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RESTRICTEDTitle: Ser129 phosphorylation of endogenous α-synuclein induced by overexpression of polo-like kinases 2 and 3 in nigral dopamine neurons is not detrimental to their survival and functionJournal Name: Neurobiology of DiseasePublisher: Elsevier BVVol: 78Issue #:Start Page: 100End Page: 114Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.nbd.2015.03.008Best OA location URL: https://doaj.org/article/e6cfc888a029486e90bd0c862951a4b1Citation Count: 27
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RESTRICTEDTitle: Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindredJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 19Issue #: 9Start Page: 3835End Page: 3847Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1002/alz.13021Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10514237/pdf/nihms-1876213.pdfCitation Count: 15
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OPENTitle: Immunotherapy in Parkinson’s disease: Current status and future directionsJournal Name: Neurobiology of DiseasePublisher: Elsevier BVVol: 132Issue #:Start Page: 104587End Page: 104587Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.nbd.2019.104587Best OA location URL: https://doi.org/10.1016/j.nbd.2019.104587Citation Count: 66
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RESTRICTEDTitle: Selective metabotropic glutamate receptor 2 positive allosteric modulation alleviates L-DOPA-induced psychosis-like behaviours and dyskinesia in the MPTP-lesioned marmosetJournal Name: European Journal of PharmacologyPublisher: Elsevier BVVol: 873Issue #:Start Page: 172957End Page: 172957Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.ejphar.2020.172957Citation Count: 29
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OPENTitle: Composite measures of motor performance and self-efficacy are better determinants of postural instability and gait difficulties than individual clinical measures in Parkinson's diseaseJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 107Issue #:Start Page: 105251End Page: 105251Publication Date:Open Access(OA) Status: OPENLicense: other-oaDOI - Digital Object Identifier: 10.1016/j.parkreldis.2022.105251Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC10028594/pdf/nihms-1882881.pdfCitation Count: 4
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RESTRICTEDTitle: Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA geneJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 55Issue #:Start Page: 45End Page: 49Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2018.05.009Citation Count: 116
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RESTRICTEDTitle: Hypertension and progressive supranuclear palsyJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 66Issue #:Start Page: 166End Page: 170Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.07.036Citation Count: 21
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RESTRICTEDTitle: Parallel development of Parkinson's-specific competencies for exercise professionals and criteria for exercise education programsJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 112Issue #:Start Page: 105407End Page: 105407Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2023.105407Citation Count: 3
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OPENTitle: Leucine-rich repeat kinase 2 positively regulates inflammation and down-regulates NF-κB p50 signaling in cultured microglia cellsJournal Name: Journal of NeuroinflammationPublisher: Springer Science and Business Media LLCVol: 12Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1186/s12974-015-0449-7Best OA location URL: https://jneuroinflammation.biomedcentral.com/counter/pdf/10.1186/s12974-015-0449-7Citation Count: 120
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OPENTitle: A detailed clinical study of pain in 1957 participants with early/moderate Parkinson's diseaseJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 56Issue #:Start Page: 27End Page: 32Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.parkreldis.2018.06.001Best OA location URL: http://www.prd-journal.com/article/S1353802018302608/pdfCitation Count: 119
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OPENTitle: Diffusion tensor subspace imaging of double diffusion–encoded MRI delineates small fibers and gray‐matter microstructure not visible with single encoding techniquesJournal Name: Magnetic Resonance in MedicinePublisher: WileyVol: 93Issue #: 6Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1002/mrm.30463Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mrm.30463Citation Count: 0
- Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K-SNCA mutation carriers2019OPENTitle: Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K-SNCA mutation carriersJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 65Issue #:Start Page: 139End Page: 145Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.05.038Best OA location URL: http://hdl.handle.net/10810/64481Citation Count: 21
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OPENTitle: Changes in Oxidised Phospholipids in Response to Oxidative Stress in Microtubule-Associated Protein Tau (MAPT) Mutant Dopamine NeuronsJournal Name: AntioxidantsPublisher: MDPI AGVol: 13Issue #: 5Start Page: 508End Page: 508Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.3390/antiox13050508Best OA location URL: https://www.mdpi.com/2076-3921/13/5/508/pdf?version=1713950223Citation Count: 2
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OPENTitle: Loss of Leucine-Rich Repeat Kinase 2 (LRRK2) in Rats Leads to Progressive Abnormal Phenotypes in Peripheral OrgansJournal Name: PLoS ONEPublisher: Public Library of Science (PLoS)Vol: 8Issue #: 11Start Page: e80705End Page: e80705Publication Date:Open Access(OA) Status: OPENLicense: cc0DOI - Digital Object Identifier: 10.1371/journal.pone.0080705Best OA location URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0080705&type=printableCitation Count: 180
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OPENTitle: Trichloroethylene, a ubiquitous environmental contaminant in the risk for Parkinson's diseaseJournal Name: Environmental Science: Processes & ImpactsPublisher: Royal Society of Chemistry (RSC)Vol: 22Issue #: 3Start Page: 543End Page: 554Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1039/c9em00578aBest OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7941732Citation Count: 51
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RESTRICTEDTitle: A Phase 2A Trial of the Novel mGluR5‐Negative Allosteric Modulator Dipraglurant for Levodopa‐Induced Dyskinesia in Parkinson's DiseaseJournal Name: Movement DisordersPublisher: WileyVol: 31Issue #: 9Start Page: 1373End Page: 1380Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1002/mds.26659Citation Count: 130
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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:End Page:Publication 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: 51
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OPENTitle: Heritability of hippocampal subfield volumes using a twin and non-twin siblings designJournal Name: Human Brain MappingPublisher: WileyVol: 38Issue #: 9Start Page: 4337End Page: 4352Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.23654Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hbm.23654Citation Count: 29
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RESTRICTEDTitle: How to evaluate effects of occupational therapy – lessons learned from an exploratory randomized controlled trialJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 67Issue #:Start Page: 42End Page: 47Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.09.013Citation Count: 4
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RESTRICTEDTitle: CRISPR/Cas9‐Based Functional Genomics in Human Induced Pluripotent Stem Cell–Derived Models: Can “the Stars Align” for Neurodegenerative Diseases?Journal Name: Movement DisordersPublisher: WileyVol: 37Issue #: 5Start Page: 886End Page: 890Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1002/mds.28998Citation Count: 1
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RESTRICTEDTitle: The BioFIND Study (Fox Investigation For New Discovery Of Biomarkers In Parkinson’s Disease): Design And Methodology (P4.043)Journal Name: NeurologyPublisher: Ovid Technologies (Wolters Kluwer Health)Vol: 82Issue #: 10_supplementStart Page:End Page:Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1212/wnl.82.10_supplement.p4.043Citation Count: 5
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OPENTitle: Bioinspired Theranostic Coordination Polymer Nanoparticles for Intranasal Dopamine Replacement in Parkinson’s DiseaseJournal Name: ACS NanoPublisher: American Chemical Society (ACS)Vol: 15Issue #: 5Start Page: 8592End Page: 8609Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1021/acsnano.1c00453Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acsnano.1c00453Citation Count: 79
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OPENTitle: Fidelity of frequency and phase entrainment of circuit-level spike activity during DBSJournal Name: Journal of NeurophysiologyPublisher: American Physiological SocietyVol: 114Issue #: 2Start Page: 825End Page: 834Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1152/jn.00259.2015Best OA location URL: http://doi.org/10.1152/jn.00259.2015Citation Count: 47
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RESTRICTEDTitle: The association between cigarette smoking and dementia with Lewy bodiesJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 128Issue #:Start Page: 107133End Page: 107133Publication Date:Open Access(OA) Status: RESTRICTEDLicense: other-oaDOI - Digital Object Identifier: 10.1016/j.parkreldis.2024.107133Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC11663461/pdf/nihms-2028431.pdfCitation Count: 3
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OPENTitle: Network Connectivity Alterations across the MAPT Mutation Clinical SpectrumJournal Name: Annals of NeurologyPublisher: WileyVol: 94Issue #: 4Start Page: 632End Page: 646Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1002/ana.26738Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.26738Citation Count: 4
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RESTRICTEDTitle: Evaluation of Protein Identification and Quantification by the diaPASEF Method on timsTOF SCPJournal Name: Journal of the American Society for Mass SpectrometryPublisher: American Chemical Society (ACS)Vol: 35Issue #: 6Start Page: 1253End Page: 1260Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1021/jasms.4c00067Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/12379512Citation Count: 3
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RESTRICTEDTitle: Thalamic deep brain stimulation for drug-induced tremorJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 21Issue #: 11Start Page: 1369End Page: 1370Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2015.08.033Citation Count: 7
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RESTRICTEDTitle: Corneal confocal microscopy demonstrates varying degrees of neurodegeneration in atypical parkinsonian disordersJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 117Issue #:Start Page: 105899End Page: 105899Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2023.105899Citation Count: 5
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OPENTitle: Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s diseaseJournal Name: Clinical Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 10Issue #:Start Page: 100236End Page: 100236Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.prdoa.2024.100236Best OA location URL: http://dx.doi.org/10.1016/j.prdoa.2024.100236Citation Count: 0
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OPENTitle: A History of Senile Plaques: From Alzheimer to Amyloid ImagingJournal Name: Journal of Neuropathology & Experimental NeurologyPublisher: Oxford University Press (OUP)Vol: 81Issue #: 6Start Page: 387End Page: 413Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/jnen/nlac030Best OA location URL: https://academic.oup.com/jnen/article-pdf/81/6/387/43778548/nlac030.pdfCitation Count: 26
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OPENTitle: An application of generalized matrix learning vector quantization in neuroimagingJournal Name: Computer Methods and Programs in BiomedicinePublisher: Elsevier BVVol: 197Issue #:Start Page: 105708End Page: 105708Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.cmpb.2020.105708Best OA location URL: https://doi.org/10.1016/j.cmpb.2020.105708Citation Count: 17
- Inflammasome inhibition prevents α-synuclein pathology and dopaminergic neurodegeneration in mice2018OPENTitle: Inflammasome inhibition prevents α-synuclein pathology and dopaminergic neurodegeneration in miceJournal Name: Science Translational MedicinePublisher: American Association for the Advancement of Science (AAAS)Vol: 10Issue #: 465Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1126/scitranslmed.aah4066Citation Count: 719
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OPENTitle: A lipid switch unlocks Parkinson’s disease-associated ATP13A2Journal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 112Issue #: 29Start Page: 9040End Page: 9045Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1073/pnas.1508220112Best OA location URL: https://www.pnas.org/content/pnas/112/29/9040.full.pdfCitation Count: 91
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OPENTitle: The kainate receptor antagonist UBP310 but not single deletion of GluK1, GluK2, or GluK3 subunits, inhibits MPTP-induced degeneration in the mouse midbrainJournal Name: Experimental NeurologyPublisher: Elsevier BVVol: 323Issue #:Start Page: 113062End Page: 113062Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.expneurol.2019.113062Best OA location URL: https://opus.lib.uts.edu.au/bitstream/10453/136564/4/Binder1.pdfCitation Count: 14
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OPENTitle: Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregationJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 31Issue #: 21Start Page: 3613End Page: 3628Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/hmg/ddac035Best OA location URL: https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac035/42548512/ddac035.pdfCitation Count: 25