8651 - 8675 of 8818 Results
Title
Year
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OPENTitle: Optical Structural Analysis of Individual α‐Synuclein OligomersJournal Name: Angewandte ChemiePublisher: WileyVol: 130Issue #: 18Start Page: 4980End Page: 4984Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ange.201710779Best OA location URL: https://doi.org/10.1002/ange.201710779Citation Count: 0
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OPENTitle: Personalised regional modelling predicts tau progression in the human brainJournal Name: PLOS BiologyPublisher: Public Library of Science (PLoS)Vol: 23Issue #: 7Start Page: e3003241End Page: e3003241Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1371/journal.pbio.3003241Best OA location URL: https://doi.org/10.1371/journal.pbio.3003241Citation Count: 0
- Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly2023OPENTitle: Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyJournal Name: European Journal of Human GeneticsPublisher: Springer Science and Business Media LLCVol: 32Issue #: 1Start Page: 52End Page: 60Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41431-023-01461-2Best OA location URL: https://www.nature.com/articles/s41431-023-01461-2.pdfCitation Count: 9
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OPENTitle: Stratification of candidate genes for Parkinson’s disease using weighted protein-protein interaction network analysisJournal Name: BMC GenomicsPublisher: Springer Science and Business Media LLCVol: 19Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s12864-018-4804-9Best OA location URL: https://bmcgenomics.biomedcentral.com/track/pdf/10.1186/s12864-018-4804-9.pdfCitation Count: 42
- Self-supervised learning for human activity recognition using 700,000 person-days of wearable data2024OPENTitle: Self-supervised learning for human activity recognition using 700,000 person-days of wearable dataJournal Name: npj Digital MedicinePublisher: Springer Science and Business Media LLCVol: 7Issue #: 1Start Page: 91End Page: 91Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41746-024-01062-3Best OA location URL: https://www.nature.com/articles/s41746-024-01062-3.pdfCitation Count: 72
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OPENTitle: Excessive burden of lysosomal storage disorder gene variants in Parkinson’s diseaseJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 140Issue #: 12Start Page: 3191End Page: 3203Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awx285Best OA location URL: https://academic.oup.com/brain/article-pdf/140/12/3191/24174748/awx285.pdfCitation Count: 413
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OPENTitle: The Liquid State of RIM1α and RBP Condensates is Maintained by LipidsJournal Name: ACS NanoPublisher: American Chemical Society (ACS)Vol: 19Issue #: 48Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1021/acsnano.5c07661Best OA location URL: https://doi.org/10.1021/acsnano.5c07661Citation Count: 0
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OPENTitle: New Developments in Cholinergic Imaging in Alzheimer and Lewy Body DisordersJournal Name: Current Behavioral Neuroscience ReportsPublisher: Springer Science and Business Media LLCVol: 7Issue #: 4Start Page: 278End Page: 286Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s40473-020-00221-6Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7992054Citation Count: 8
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OPENTitle: Normative vs. patient-specific brain connectivity in deep brain stimulationJournal Name: NeuroImagePublisher: Elsevier BVVol: 224Issue #:Start Page: 117307End Page: 117307Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.neuroimage.2020.117307Best OA location URL: https://doi.org/10.1016/j.neuroimage.2020.117307Citation Count: 121
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RESTRICTEDTitle: Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 148Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: RESTRICTEDLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae312Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae312/59644388/awae312.pdfCitation Count: 1
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders2024OPENTitle: The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 8Start Page: 2775End Page: 2790Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae056Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae056/56907442/awae056.pdfCitation Count: 7
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OPENTitle: Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJournal Name: NeuronPublisher: Elsevier BVVol: 109Issue #: 3Start Page: 448End Page: 460.e4Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.neuron.2020.11.005Best OA location URL: https://hdl.handle.net/2292/65532Citation Count: 72
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OPENTitle: Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expressionJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 25End Page: 25Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-024-00636-yBest OA location URL: https://www.nature.com/articles/s41531-024-00636-y.pdfCitation Count: 16
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OPENTitle: Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeJournal Name: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePublisher: Elsevier BVVol: 1872Issue #: 4Start Page: 168184End Page: 168184Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1016/j.bbadis.2026.168184Best OA location URL: https://doi.org/10.1016/j.bbadis.2026.168184Citation Count: 0
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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: cc-byDOI - 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: Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencingJournal Name: Genome BiologyPublisher: Springer Science and Business Media LLCVol: 18Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s13059-017-1147-9Best OA location URL: https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-017-1147-9Citation Count: 114
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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
- Structural remodeling of the mitochondrial protein biogenesis machinery under proteostatic stress2026OPENTitle: Structural remodeling of the mitochondrial protein biogenesis machinery under proteostatic stressJournal Name: Science AdvancesPublisher: American Association for the Advancement of Science (AAAS)Vol: 12Issue #: 10Start Page: eaed3579End Page: eaed3579Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1126/sciadv.aed3579Best OA location URL: https://doi.org/10.1126/sciadv.aed3579Citation Count: 0
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OPENTitle: Nanostars Carrying Multifunctional Neurotrophic Dendrimers Protect Neurons in Preclinical In Vitro Models of Neurodegenerative DisordersJournal Name: ACS Applied Materials & InterfacesPublisher: American Chemical Society (ACS)Vol: 14Issue #: 42Start Page: 47445End Page: 47460Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acsami.2c14220Best OA location URL: https://doi.org/10.1021/acsami.2c14220Citation Count: 18
- 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: 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
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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
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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:End Page:Publication 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: 0
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OPENTitle: Shared Genetics of Multiple System Atrophy and Inflammatory Bowel DiseaseJournal Name: Movement DisordersPublisher: WileyVol: 36Issue #: 2Start Page: 449End Page: 459Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/mds.28338Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28338Citation Count: 19
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OPENTitle: Inhibition of striatal dopamine release by the L‐type calcium channel inhibitor isradipine co‐varies with risk factors for Parkinson'sJournal Name: European Journal of NeurosciencePublisher: WileyVol: 59Issue #: 6Start Page: 1242End Page: 1259Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1111/ejn.16180Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/ejn.16180Citation Count: 5