8681 - 8690 of 8816 Results
Title
Year
- 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
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OPENTitle: MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathyJournal Name: The American Journal of Human GeneticsPublisher: Elsevier BVVol: 113Issue #: 2Start Page: 380End Page: 391Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.ajhg.2025.12.015Best OA location URL: https://doi.org/10.1016/j.ajhg.2025.12.015Citation Count: 0
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OPENTitle: Motor Complications in Parkinson's Disease: 13‐Year Follow‐up of the CamPaIGN CohortJournal Name: Movement DisordersPublisher: WileyVol: 35Issue #: 1Start Page: 185End Page: 190Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/mds.27882Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.27882Citation Count: 65
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OPENTitle: Biofunctionalised bacterial cellulose scaffold supports the patterning and expansion of human embryonic stem cell-derived dopaminergic progenitor cellsJournal Name: Stem Cell Research & TherapyPublisher: Springer Science and Business Media LLCVol: 12Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13287-021-02639-5Best OA location URL: https://stemcellres.biomedcentral.com/track/pdf/10.1186/s13287-021-02639-5Citation Count: 11
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity2024OPENTitle: RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 7Start Page: 2334End Page: 2343Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae091Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae091/57089091/awae091.pdfCitation Count: 4
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OPENTitle: Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammationJournal Name: Genome MedicinePublisher: Springer Science and Business Media LLCVol: 14Issue #: 1Start Page: 129End Page: 129Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13073-022-01132-9Best OA location URL: https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-022-01132-9Citation Count: 16
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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-by, 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
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OPENTitle: DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimationJournal Name: PLOS ONEPublisher: Public Library of Science (PLoS)Vol: 12Issue #: 7Start Page: e0180467End Page: e0180467Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1371/journal.pone.0180467Best OA location URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0180467&type=printableCitation Count: 33
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OPENTitle: Visual Hallucinations in Eye Disease and Lewy Body DiseaseJournal Name: The American Journal of Geriatric PsychiatryPublisher: Elsevier BVVol: 24Issue #: 5Start Page: 350End Page: 358Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.jagp.2015.10.007Best OA location URL: http://www.ajgponline.org/article/S1064748115002687/pdfCitation Count: 28
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OPENTitle: Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson'sJournal Name: Annals of NeurologyPublisher: WileyVol: 80Issue #: 5Start Page: 674End Page: 685Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ana.24781Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.24781Citation Count: 248