8711 - 8720 of 8818 Results
Title
Year
-
OPENTitle: Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersJournal Name: Genetics in MedicinePublisher: Elsevier BVVol: 26Issue #: 6Start Page: 101117End Page: 101117Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.gim.2024.101117Best OA location URL: https://doi.org/10.1016/j.gim.2024.101117Citation Count: 2
-
OPENTitle: Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder PatientsJournal Name: Movement DisordersPublisher: WileyVol: 40Issue #: 7Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/mds.30242Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30242Citation Count: 0
- Contingent negative variation: a biomarker of abnormal attention in functional movement disorders2020OPENTitle: Contingent negative variation: a biomarker of abnormal attention in functional movement disordersJournal Name: European Journal of NeurologyPublisher: WileyVol: 27Issue #: 6Start Page: 985End Page: 994Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1111/ene.14189Best OA location URL: https://escholarship.org/uc/item/4kw389mzCitation Count: 23
-
OPENTitle: An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synucleinJournal Name: Cell ReportsPublisher: Elsevier BVVol: 35Issue #: 10Start Page: 109189End Page: 109189Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.celrep.2021.109189Best OA location URL: http://www.cell.com/article/S2211124721005350/pdfCitation Count: 11
-
OPENTitle: MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association studyJournal Name: The Lancet NeurologyPublisher: Elsevier BVVol: 23Issue #: 5Start Page: 487End Page: 499Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1016/s1474-4422(24)00083-8Best OA location URL: http://www.thelancet.com/article/S1474442224000838/pdfCitation Count: 15
-
OPENTitle: Short hydrogen bonds enhance nonaromatic protein-related fluorescenceJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 118Issue #: 21Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2020389118Best OA location URL: https://doi.org/10.1073/pnas.2020389118Citation Count: 39
-
OPENTitle: Using a stable protein scaffold to display peptides that bind to alpha‐synuclein fibrilsJournal Name: Protein SciencePublisher: WileyVol: 34Issue #: 6Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/pro.70150Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pro.70150Citation Count: 0
-
OPENTitle: Molecular Mechanisms of Cationic Fusogenic Liposome Interactions with Bacterial EnvelopesJournal Name: Journal of the American Chemical SocietyPublisher: American Chemical Society (ACS)Vol: 145Issue #: 51Start Page: 28240End Page: 28250Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/jacs.3c11463Best OA location URL: https://doi.org/10.1021/jacs.3c11463Citation Count: 28
-
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
-
OPENTitle: Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brainJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 122Issue #: 5Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2412029122Best OA location URL: https://doi.org/10.1073/pnas.2412029122Citation Count: 3