5351 - 5375 of 6433 Results
Title
Year
-
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-byDOI - Digital Object Identifier: 10.1002/ana.25879Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879Citation Count: 93
- LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages2018OPENTitle: LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophagesJournal Name: The EMBO JournalPublisher: Springer Science and Business Media LLCVol: 37Issue #: 12Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.15252/embj.201798694Best OA location URL: https://doi.org/10.15252/embj.201798694Citation Count: 164
-
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:End Page:Publication 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: 0
-
OPENTitle: Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromesJournal Name: Journal of Neurology, Neurosurgery & PsychiatryPublisher: BMJVol: 90Issue #: 7Start Page: 768End Page: 773Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1136/jnnp-2018-320151Best OA location URL: https://jnnp.bmj.com/content/jnnp/90/7/768.full.pdfCitation Count: 50
- Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity2022OPENTitle: Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicityJournal Name: Nature NeurosciencePublisher: Springer Science and Business Media LLCVol: 25Issue #: 9Start Page: 1134End Page: 1148Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41593-022-01140-3Best OA location URL: https://www.nature.com/articles/s41593-022-01140-3.pdfCitation Count: 172
-
OPENTitle: Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative diseaseJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41598-020-72190-5Best OA location URL: https://www.nature.com/articles/s41598-020-72190-5.pdfCitation Count: 22
- A Comparative Study of High-Contrast Fluorescence Lifetime Probes for Imaging Amyloid in Tissue2021OPENTitle: A Comparative Study of High-Contrast Fluorescence Lifetime Probes for Imaging Amyloid in TissueJournal Name: The Journal of Physical Chemistry BPublisher: American Chemical Society (ACS)Vol: 125Issue #: 50Start Page: 13710End Page: 13717Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1021/acs.jpcb.1c07762Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7615715Citation Count: 6
-
OPENTitle: The effect of LRRK2 loss-of-function variants in humansJournal Name: Nature MedicinePublisher: Springer Science and Business Media LLCVol: 26Issue #: 6Start Page: 869End Page: 877Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41591-020-0893-5Best OA location URL: https://www.nature.com/articles/s41591-020-0893-5.pdfCitation Count: 103
-
OPENTitle: Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 5Issue #: 5Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcad222Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcad222/51119555/fcad222.pdfCitation Count: 4
-
OPENTitle: Short hydrogen bonds enhance nonaromatic protein-related fluorescenceJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 118Issue #: 21Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1073/pnas.2020389118Best OA location URL: https://doi.org/10.1073/pnas.2020389118Citation Count: 39
-
OPENTitle: Molecular Mechanisms of Cationic Fusogenic Liposome Interactions with Bacterial EnvelopesJournal Name: Journal of the American Chemical SocietyPublisher: American Chemical Society (ACS)Vol: 145Issue #: 51Start Page: 28240End Page: 28250Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1021/jacs.3c11463Best OA location URL: https://doi.org/10.1021/jacs.3c11463Citation Count: 28
-
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-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: 17
-
OPENTitle: powerEQTL: an R package and shiny application for sample size and power calculation of bulk tissue and single-cell eQTL analysisJournal Name: BioinformaticsPublisher: Oxford University Press (OUP)Vol: 37Issue #: 22Start Page: 4269End Page: 4271Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/bioinformatics/btab385Best OA location URL: https://doi.org/10.1093/bioinformatics/btab385Citation Count: 27
- L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression2019OPENTitle: L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progressionJournal Name: Parkinsonism & Related DisordersPublisher: Elsevier BVVol: 65Issue #:Start Page: 55End Page: 61Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.parkreldis.2019.05.022Best OA location URL: https://www.repository.cam.ac.uk/handle/1810/294951Citation Count: 28
-
OPENTitle: Intracellular Aβ42 Aggregation Leads to Cellular ThermogenesisJournal Name: Journal of the American Chemical SocietyPublisher: American Chemical Society (ACS)Vol: 144Issue #: 22Start Page: 10034End Page: 10041Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/jacs.2c03599Best OA location URL: https://doi.org/10.1021/jacs.2c03599Citation Count: 23
-
OPENTitle: Millisecond Hydrogen/Deuterium-Exchange Mass Spectrometry Approach to Correlate Local Structure and Aggregation in α-SynucleinJournal Name: Analytical ChemistryPublisher: American Chemical Society (ACS)Vol: 94Issue #: 48Start Page: 16711End Page: 16719Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1021/acs.analchem.2c03183Best OA location URL: https://doi.org/10.1021/acs.analchem.2c03183Citation Count: 20
-
OPENTitle: ARSA variants in α-synucleinopathiesJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 142Issue #: 12Start Page: e70End Page: e70Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awz340Best OA location URL: https://academic.oup.com/brain/article-pdf/142/12/e70/31499429/awz340.pdfCitation Count: 19
-
OPENTitle: Mitophagy bridges glucose metabolism, inflammation and neuroprotection in astrocytesJournal Name: AutophagyPublisher: Informa UK LimitedVol:Issue #:Start Page: 1End Page: 3Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1080/15548627.2026.2623987Best OA location URL: https://doi.org/10.1080/15548627.2026.2623987Citation Count: 0
- B lymphocyte responses in Parkinson’s disease and their possible significance in disease progression2023OPENTitle: B lymphocyte responses in Parkinson’s disease and their possible significance in disease progressionJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 5Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcad060Best OA location URL: https://academic.oup.com/braincomms/article-pdf/5/2/fcad060/49650847/fcad060.pdfCitation Count: 23
-
OPENTitle: Label-Free Characterization of Amyloids and Alpha-Synuclein Polymorphs by Exploiting Their Intrinsic Fluorescence PropertyJournal Name: Analytical ChemistryPublisher: American Chemical Society (ACS)Vol: 94Issue #: 13Start Page: 5367End Page: 5374Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-ndDOI - Digital Object Identifier: 10.1021/acs.analchem.1c05651Best OA location URL: https://doi.org/10.1021/acs.analchem.1c05651Citation Count: 17
-
OPENTitle: Optical Structural Analysis of Individual α‐Synuclein OligomersJournal Name: Angewandte Chemie International EditionPublisher: WileyVol: 57Issue #: 18Start Page: 4886End Page: 4890Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1002/anie.201710779Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/anie.201710779Citation Count: 42
-
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: 52
-
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:End Page:Publication 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: 19
-
OPENTitle: Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicityJournal Name: Acta Neuropathologica CommunicationsPublisher: Springer Science and Business Media LLCVol: 8Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1186/s40478-020-01004-6Best OA location URL: https://actaneurocomms.biomedcentral.com/track/pdf/10.1186/s40478-020-01004-6Citation Count: 19
-
OPENTitle: Comparison of Patient and Expert Perceptions of the Attainment of Research Milestones in Parkinson's DiseaseJournal Name: Movement DisordersPublisher: WileyVol: 36Issue #: 1Start Page: 171End Page: 177Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1002/mds.28319Best OA location URL: https://movementdisorders.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28319Citation Count: 4