7726 - 7750 of 9117 Results
Title
Year
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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: 110
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OPENTitle: NeuroSuite for Long‐Term Functional and Structural Studies of Air‐Liquid Interface Cerebral OrganoidsJournal Name: Advanced SciencePublisher: WileyVol:Issue #:Start Page: e19893End Page: e19893Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1002/advs.202519893Best OA location URL: https://doi.org/10.1002/advs.202519893Citation Count: 0
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OPENTitle: The Anthelmintic Drug Niclosamide and Its Analogues Activate the Parkinson's Disease Associated Protein Kinase PINK1Journal Name: ChemBioChemPublisher: WileyVol: 19Issue #: 5Start Page: 425End Page: 429Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/cbic.201700500Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/cbic.201700500Citation Count: 63
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OPENTitle: GTP binding controls complex formation by the human ROCO protein MASL1Journal Name: The FEBS JournalPublisher: WileyVol: 281Issue #: 1Start Page: 261End Page: 274Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1111/febs.12593Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/febs.12593Citation Count: 13
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OPENTitle: Alzheimer's disease pathology explains association between dementia with Lewy bodies and APOE‐ε4/TOMM40 long poly‐T repeat allele variantsJournal Name: Alzheimer's & Dementia: Translational Research & Clinical InterventionsPublisher: WileyVol: 5Issue #: 1Start Page: 814End Page: 824Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.trci.2019.08.005Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.trci.2019.08.005Citation Count: 22
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OPENTitle: Intracellular Thermometry to Study Protein Aggregation Related to Neurodegenerative DiseasesJournal Name: Trends in Biochemical SciencesPublisher: Elsevier BVVol: 46Issue #: 3Start Page: 251End Page: 252Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.tibs.2020.12.003Best OA location URL: http://www.cell.com/article/S096800042030308X/pdfCitation Count: 2
- Diagnostic and other biomarkers of dementia with Lewy bodies: from research to clinical settings2025OPENTitle: Diagnostic and other biomarkers of dementia with Lewy bodies: from research to clinical settingsJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 24Issue #: 12Start Page: 1053End Page: 1065Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/s1474-4422(25)00314-xBest OA location URL: https://resolver.sub.uni-goettingen.de/purl?gro-2/152824Citation Count: 11
- Olfaction inParkinsingle and compound heterozygotes in a cohort of young onset Parkinson's disease patients2015RESTRICTEDTitle: Olfaction inParkinsingle and compound heterozygotes in a cohort of young onset Parkinson's disease patientsJournal Name: Acta Neurologica ScandinavicaPublisher: WileyVol: 134Issue #: 4Start Page: 271End Page: 276Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1111/ane.12538Citation Count: 24
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RESTRICTEDTitle: Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling studyJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 14Issue #: 10Start Page: 1002End Page: 1009Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1016/s1474-4422(15)00178-7Best OA location URL: http://doi.org/10.1016/S1474-4422(15)00178-7Citation Count: 224
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OPENTitle: Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association dataJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 15Issue #: 6Start Page: 585End Page: 596Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/s1474-4422(16)00071-5Best OA location URL: http://www.thelancet.com/article/S1474442216000715/pdfCitation Count: 97
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OPENTitle: Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohortsJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 16Issue #: 8Start Page: 620End Page: 629Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/s1474-4422(17)30122-9Best OA location URL: https://www.repository.cam.ac.uk/handle/1810/267006Citation Count: 189
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OPENTitle: Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association studyJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 17Issue #: 6Start Page: 548End Page: 558Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/s1474-4422(18)30126-1Best OA location URL: https://research.vumc.nl/en/publications/57d02919-2cda-42ec-b013-51bcf8175201Citation Count: 130
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OPENTitle: Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association studyJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 17Issue #: 1Start Page: 64End Page: 74Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/s1474-4422(17)30400-3Best OA location URL: https://kclpure.kcl.ac.uk/ws/files/148223504/Investigating_the_genetic_architecture_of_dementia_TROAKES_Publishedonline16December2017_GREEN_AAM.pdfCitation Count: 292
- Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia2023OPENTitle: Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxiaJournal Name: European Journal of NeurologyPublisher: WileyVol: 30Issue #: 12Start Page: 3828End Page: 3833Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1111/ene.16039Citation Count: 41
- Contingent negative variation: a biomarker of abnormal attention in functional movement disorders2020OPENTitle: Contingent negative variation: a biomarker of abnormal attention in functional movement disordersJournal Name: European Journal of NeurologyPublisher: WileyVol: 27Issue #: 6Start Page: 985End Page: 994Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1111/ene.14189Best OA location URL: https://escholarship.org/uc/item/4kw389mzCitation Count: 24
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OPENTitle: Purification of Recombinant α-synuclein: A Comparison of Commonly Used ProtocolsJournal Name: BiochemistryPublisher: American Chemical Society (ACS)Vol: 59Issue #: 48Start Page: 4563End Page: 4572Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.biochem.0c00725Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.biochem.0c00725Citation Count: 30
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OPENTitle: Weighted Protein Interaction Network Analysis of Frontotemporal DementiaJournal Name: Journal of Proteome ResearchPublisher: American Chemical Society (ACS)Vol: 16Issue #: 2Start Page: 999End Page: 1013Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.jproteome.6b00934Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.jproteome.6b00934Citation Count: 45
- PINK1-Dependent Mitophagy Inhibits Elevated Ubiquitin Phosphorylation Caused by Mitochondrial Damage2023OPENTitle: PINK1-Dependent Mitophagy Inhibits Elevated Ubiquitin Phosphorylation Caused by Mitochondrial DamageJournal Name: Journal of Medicinal ChemistryPublisher: American Chemical Society (ACS)Vol: 66Issue #: 11Start Page: 7645End Page: 7656Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.jmedchem.3c00555Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.jmedchem.3c00555Citation Count: 31
- The Isolation and Deep Sequencing of Mitochondrial DNA2021RESTRICTEDTitle: The Isolation and Deep Sequencing of Mitochondrial DNAJournal Name: Methods in Molecular BiologyPublisher: Springer USVol:Issue #:Start Page: 433End Page: 447Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1007/978-1-0716-1270-5_27Citation Count: 8
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OPENTitle: The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neuronsJournal Name: Acta NeuropathologicaPublisher: Springer Science and Business Media LLCVol: 127Issue #: 2Start Page: 283End Page: 295Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1007/s00401-013-1219-1Best OA location URL: https://link.springer.com/content/pdf/10.1007/s00401-013-1219-1.pdfCitation Count: 35
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OPENTitle: Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiersJournal Name: Acta NeuropathologicaPublisher: Springer Science and Business Media LLCVol: 133Issue #: 5Start Page: 839End Page: 856Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s00401-017-1685-yBest OA location URL: http://doi.org/10.1007/s00401-017-1685-yCitation Count: 252
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OPENTitle: Impairment of neuronal activity occurs at the early stages of the aggregation cascade of Aβ1-42 and mutant TauJournal Name: Disease Models & MechanismsPublisher: The Company of BiologistsVol: 19Issue #: 3Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1242/dmm.052295Best OA location URL: https://doi.org/10.1242/dmm.052295Citation Count: 0
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OPENTitle: Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6Journal Name: Movement DisordersPublisher: WileyVol: 29Issue #: 2Start Page: 252End Page: 255Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/mds.25706Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/6551218Citation Count: 66
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OPENTitle: Clinical and demographic characteristics related to onset site and spread of cervical dystoniaJournal Name: Movement DisordersPublisher: WileyVol: 31Issue #: 12Start Page: 1874End Page: 1882Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/mds.26817Best OA location URL: http://doi.org/10.1002/mds.26817Citation Count: 47
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OPENTitle: Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down SyndromeJournal Name: JAMA Network OpenPublisher: American Medical Association (AMA)Vol: 3Issue #: 9Start Page: e2018221End Page: e2018221Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1001/jamanetworkopen.2020.18221Best OA location URL: https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2770878/dsouza_2020_oi_200657_1605807465.21177.pdfCitation Count: 11