6131 - 6140 of 6467 Results
Title
Year
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OPENTitle: Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 7Issue #: 5Start Page: fcaf369End Page: fcaf369Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcaf369Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcaf369/64356002/fcaf369.pdfCitation Count: 1
- Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases2024OPENTitle: Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseasesJournal Name: Acta NeuropathologicaPublisher: Springer Science and Business Media LLCVol: 147Issue #: 1Start Page: 17End Page: 17Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s00401-023-02661-2Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC11812622/pdf/nihms-2035454.pdfCitation Count: 18
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OPENTitle: Mitofusin 2 displays fusion-independent roles in proteostasis surveillanceJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 16Issue #: 1Start Page: 1501End Page: 1501Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41467-025-56673-5Best OA location URL: https://doi.org/10.1038/s41467-025-56673-5Citation Count: 16
- The Amplification of Alpha‐Synuclein Amyloid Fibrils is Suppressed under Fully Quiescent Conditions2024OPENTitle: The Amplification of Alpha‐Synuclein Amyloid Fibrils is Suppressed under Fully Quiescent ConditionsJournal Name: Angewandte Chemie International EditionPublisher: WileyVol: 64Issue #: 7Start Page: e202419173End Page: e202419173Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1002/anie.202419173Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/anie.202419173Citation Count: 7
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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: 16
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OPENTitle: Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathwayJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 10Start Page: 3514End Page: 3522Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awaf202Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf202/63419094/awaf202.pdfCitation Count: 3
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OPENTitle: Impact of excessive daytime sleepiness on the progression of freezing of gait in de novo Parkinson’s disease: a cohort studyJournal Name: Neurological SciencesPublisher: Springer Science and Business Media LLCVol: 46Issue #: 2Start Page: 723End Page: 731Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s10072-024-07738-8Best OA location URL: https://link.springer.com/content/pdf/10.1007/s10072-024-07738-8.pdfCitation Count: 3
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OPENTitle: Splicing accuracy varies across human introns, tissues, age and diseaseJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 16Issue #: 1Start Page: 1068End Page: 1068Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41467-024-55607-xBest OA location URL: https://www.nature.com/articles/s41467-024-55607-x.pdfCitation Count: 19
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OPENTitle: Protocol for live imaging of axonal transport in iPSC-derived iNeuronsJournal Name: STAR ProtocolsPublisher: Elsevier BVVol: 6Issue #: 1Start Page: 103556End Page: 103556Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.xpro.2024.103556Best OA location URL: https://doi.org/10.1016/j.xpro.2024.103556Citation Count: 3
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OPENTitle: Interactions of Oligodendrocyte Precursor Cells and Dopaminergic Neurons in the Mouse Substantia NigraJournal Name: Journal of NeurochemistryPublisher: WileyVol: 169Issue #: 1Start Page: e16298End Page: e16298Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1111/jnc.16298Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jnc.16298Citation Count: 9