5541 - 5550 of 6515 Results
Title
Year
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OPENTitle: Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implicationsJournal Name: Journal of Neurology, Neurosurgery & PsychiatryPublisher: BMJVol: 96Issue #: 10Start Page: 928End Page: 936Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1136/jnnp-2024-335364Best OA location URL: https://jnnp.bmj.com/content/jnnp/early/2025/02/12/jnnp-2024-335364.full.pdfCitation Count: 11
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OPENTitle: Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicingJournal Name: Acta NeuropathologicaPublisher: Springer Science and Business Media LLCVol: 149Issue #: 1Start Page: 59End Page: 59Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1007/s00401-025-02901-7Best OA location URL: https://link.springer.com/content/pdf/10.1007/s00401-025-02901-7.pdfCitation Count: 3
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OPENTitle: Altered network stability in progressive supranuclear palsyJournal Name: Neurobiology of AgingPublisher: Elsevier BVVol: 107Issue #:Start Page: 109End Page: 117Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2021.07.007Best OA location URL: https://doi.org/10.1016/j.neurobiolaging.2021.07.007Citation Count: 14
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OPENTitle: Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 4Start Page: 1197End Page: 1205Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awad434Best OA location URL: https://hal.science/hal-05121495Citation Count: 8
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OPENTitle: Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer’s disease related proteinsJournal Name: Molecular NeurodegenerationPublisher: Springer Science and Business Media LLCVol: 18Issue #: 1Start Page: 2End Page: 2Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13024-022-00592-2Best OA location URL: https://molecularneurodegeneration.biomedcentral.com/counter/pdf/10.1186/s13024-022-00592-2Citation Count: 26
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OPENTitle: MAPT haplotype–stratified GWAS reveals differential association for AD risk variantsJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 16Issue #: 7Start Page: 983End Page: 1002Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1002/alz.12099Best OA location URL: https://doi.org/10.1002/alz.12099Citation Count: 44
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OPENTitle: The Hsc70 disaggregation machinery removes monomer units directly from α-synuclein fibril endsJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 12Issue #: 1Start Page: 5999End Page: 5999Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41467-021-25966-wBest OA location URL: https://www.nature.com/articles/s41467-021-25966-w.pdfCitation Count: 83
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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: 10
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OPENTitle: Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucoseJournal Name: PLOS ONEPublisher: Public Library of Science (PLoS)Vol: 15Issue #: 5Start Page: e0230815End Page: e0230815Publication Date:Open Access(OA) Status: OPENLicense: cc0, cc0DOI - Digital Object Identifier: 10.1371/journal.pone.0230815Best OA location URL: https://escholarship.org/uc/item/01585271Citation Count: 45
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OPENTitle: α-Synuclein fibril and synaptic vesicle interactions lead to vesicle destruction and increased lipid-associated fibril uptake into iPSC-derived neuronsJournal Name: Communications BiologyPublisher: Springer Science and Business Media LLCVol: 6Issue #: 1Start Page: 526End Page: 526Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s42003-023-04884-1Best OA location URL: https://www.nature.com/articles/s42003-023-04884-1.pdfCitation Count: 19