8771 - 8780 of 8819 Results
Title
Year
-
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: 0
-
OPENTitle: Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202AsnJournal Name: Annals of Clinical and Translational NeurologyPublisher: WileyVol: 10Issue #: 10Start Page: 1910End Page: 1916Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/acn3.51874Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51874Citation Count: 3
-
OPENTitle: Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar DegenerationJournal Name: Archives of NeurologyPublisher: American Medical Association (AMA)Vol: 68Issue #: 4Start Page: 488End Page: 488Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1001/archneurol.2011.53Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/3160280Citation Count: 120
-
OPENTitle: Pharmacological rescue of impaired mitophagy in Parkinson’s disease-related LRRK2 G2019S knock-in miceJournal Name: eLifePublisher: eLife Sciences Publications, LtdVol: 10Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.7554/elife.67604Best OA location URL: https://doi.org/10.7554/elife.67604Citation Count: 129
-
OPENTitle: Temporal order of clinical and biomarker changes in familial frontotemporal dementiaJournal Name: Nature MedicinePublisher: Springer Science and Business Media LLCVol: 28Issue #: 10Start Page: 2194End Page: 2206Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1038/s41591-022-01942-9Best OA location URL: https://www.nature.com/articles/s41591-022-01942-9.pdfCitation Count: 129
-
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: 574End Page: 574Publication 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: 12
-
OPENTitle: Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's diseaseJournal Name: Nature GeneticsPublisher: Springer Science and Business Media LLCVol: 49Issue #: 9Start Page: 1373End Page: 1384Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1038/ng.3916Best OA location URL: https://kclpure.kcl.ac.uk/ws/files/122612978/Rare_coding_variants_in_SIMS_Accepted16June2017Publishedonline17July2017_GREEN_AAM.pdfCitation Count: 1083
-
OPENTitle: Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage InferenceJournal Name: Nature CommunicationsPublisher: Springer Science and Business Media LLCVol: 9Issue #: 1Start Page: 4273End Page: 4273Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1038/s41467-018-05892-0Best OA location URL: http://hdl.handle.net/10316/107788Citation Count: 557
-
OPENTitle: Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65Journal Name: Biochemical JournalPublisher: Portland Press Ltd.Vol: 460Issue #: 1Start Page: 127End Page: 141Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1042/bj20140334Best OA location URL: https://portlandpress.com/biochemj/article-pdf/460/1/127/678769/bj4600127.pdfCitation Count: 803
-
OPENTitle: Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation studyJournal Name: PLOS MedicinePublisher: Public Library of Science (PLoS)Vol: 14Issue #: 6Start Page: e1002314End Page: e1002314Publication Date:Open Access(OA) Status: OPENLicense: cc0DOI - Digital Object Identifier: 10.1371/journal.pmed.1002314Best OA location URL: https://journals.plos.org/plosmedicine/article/file?id=10.1371/journal.pmed.1002314&type=printableCitation Count: 184