7721 - 7730 of 9134 Results
Title
Year
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome2024OPENTitle: Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 5Start Page: 1822End Page: 1836Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awae010Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae010/55676562/awae010.pdfCitation Count: 12
-
OPENTitle: Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 5Start Page: 1751End Page: 1767Publication Date:Open Access(OA) Status: OPENLicense: public-domain, public-domainDOI - Digital Object Identifier: 10.1093/brain/awad427Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad427/54752638/awad427.pdfCitation Count: 23
- Vaccination with structurally adapted fungal protein fibrils induces immunity to Parkinson’s disease2024OPENTitle: Vaccination with structurally adapted fungal protein fibrils induces immunity to Parkinson’s diseaseJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 147Issue #: 5Start Page: 1644End Page: 1652Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/brain/awae061Best OA location URL: https://doi.org/10.1093/brain/awae061Citation Count: 9
-
OPENTitle: Synapsin E-domain is essential for α-synuclein functionJournal Name: eLifePublisher: eLife Sciences Publications, LtdVol: 12Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.7554/elife.89687Best OA location URL: https://doi.org/10.7554/elife.89687Citation Count: 7
-
OPENTitle: The Effect of Obesity on the Availabilities of Dopamine and Serotonin TransportersJournal Name: Scientific ReportsPublisher: Springer Science and Business Media LLCVol: 8Issue #: 1Start Page: 4924End Page: 4924Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41598-018-22814-8Best OA location URL: https://www.nature.com/articles/s41598-018-22814-8.pdfCitation Count: 49
- Associations of sleep disorders with serum neurofilament light chain levels in Parkinson’s disease2024OPENTitle: Associations of sleep disorders with serum neurofilament light chain levels in Parkinson’s diseaseJournal Name: BMC NeurologyPublisher: Springer Science and Business Media LLCVol: 24Issue #: 1Start Page: 147End Page: 147Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1186/s12883-024-03642-yBest OA location URL: https://doi.org/10.1186/s12883-024-03642-yCitation Count: 7
-
OPENTitle: TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTDJournal Name: Nature NeurosciencePublisher: Springer Science and Business Media LLCVol: 21Issue #: 2Start Page: 228End Page: 239Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41593-017-0047-3Best OA location URL: https://www.nature.com/articles/s41593-017-0047-3.pdfCitation Count: 604
-
OPENTitle: Expanding the phenotype of PPP1R21 ‐related neurodevelopmental disorderJournal Name: Clinical GeneticsPublisher: WileyVol: 105Issue #: 6Start Page: 620End Page: 629Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1111/cge.14492Best OA location URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC11065596/pdf/nihms-1961168.pdfCitation Count: 6
-
OPENTitle: Structural underpinnings and long-term effects of resilience in Parkinson’s diseaseJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 94End Page: 94Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41531-024-00699-xBest OA location URL: https://www.nature.com/articles/s41531-024-00699-x.pdfCitation Count: 12
-
OPENTitle: Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s diseaseJournal Name: Alzheimer's Research & TherapyPublisher: Springer Science and Business Media LLCVol: 10Issue #: 1Start Page: 22End Page: 22Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1186/s13195-018-0349-zBest OA location URL: https://doi.org/10.1186/s13195-018-0349-zCitation Count: 38