6301 - 6350 of 6431 Results
Title
Year
-
OPENTitle: Weighted Protein Interaction Network Analysis of Frontotemporal DementiaJournal Name: Journal of Proteome ResearchPublisher: American Chemical Society (ACS)Vol: 16Issue #: 2Start Page: 999End Page: 1013Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.jproteome.6b00934Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.jproteome.6b00934Citation Count: 41
-
OPENTitle: Resting state functional MRI in Parkinson’s disease: the impact of deep brain stimulation on ‘effective’ connectivityJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 137Issue #: 4Start Page: 1130End Page: 1144Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1093/brain/awu027Best OA location URL: https://academic.oup.com/brain/article-pdf/137/4/1130/13799493/awu027.pdfCitation Count: 213
-
OPENTitle: Dysregulation of glucose metabolism is an early event in sporadic Parkinson's diseaseJournal Name: Neurobiology of AgingPublisher: Elsevier BVVol: 35Issue #: 5Start Page: 1111End Page: 1115Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2013.11.001Best OA location URL: https://doi.org/10.1016/j.neurobiolaging.2013.11.001Citation Count: 210
-
OPENTitle: Microelectrode Arrays for Simultaneous Electrophysiology and Advanced Optical MicroscopyJournal Name: Advanced SciencePublisher: WileyVol: 8Issue #: 13Start Page: 2004434End Page: 2004434Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/advs.202004434Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/advs.202004434Citation Count: 66
- Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease2021OPENTitle: Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s diseaseJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 7Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-021-00182-xBest OA location URL: https://www.nature.com/articles/s41531-021-00182-x.pdfCitation Count: 27
-
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:DOI - Digital Object Identifier: 10.1016/j.bbadis.2026.168184Best OA location URL: https://doi.org/10.1016/j.bbadis.2026.168184Citation Count: 0
-
OPENTitle: Neurofilament light levels predict clinical progression and death in multiple system atrophyJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 145Issue #: 12Start Page: 4398End Page: 4408Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/brain/awac253Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac253/46502457/awac253.pdfCitation Count: 68
- 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
-
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
-
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
-
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
-
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
-
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: 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
-
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
-
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
-
OPENTitle: Development and characterization of phospho-ubiquitin antibodies to monitor PINK1-PRKN signaling in cells and tissueJournal Name: AutophagyPublisher: Informa UK LimitedVol: 20Issue #: 9Start Page: 2076End Page: 2091Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1080/15548627.2024.2356490Best OA location URL: https://www.tandfonline.com/doi/pdf/10.1080/15548627.2024.2356490?needAccess=trueCitation Count: 5
- 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
-
OPENTitle: Purification of Recombinant α-synuclein: A Comparison of Commonly Used ProtocolsJournal Name: BiochemistryPublisher: American Chemical Society (ACS)Vol: 59Issue #: 48Start Page: 4563End Page: 4572Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1021/acs.biochem.0c00725Best OA location URL: https://pubs.acs.org/doi/pdf/10.1021/acs.biochem.0c00725Citation Count: 21
-
OPENTitle: Associations between contralesional neuroplasticity and motor impairment through deep learning-derived MRI regional brain age in chronic stroke (ENIGMA): a multicohort, retrospective, observational studyJournal Name: The Lancet Digital HealthPublisher: Elsevier BVVol: 8Issue #: 1Start Page: 100942End Page: 100942Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1016/j.landig.2025.100942Best OA location URL: https://www.thelancet.com/pdfs/journals/landig/PIIS2589-7500(25)00124-4.pdfCitation Count: 0
-
OPENTitle: An enhanced mountain climbing search algorithm to enable fast and accurate autofocusing in high resolution fluorescence microscopyJournal Name: Methods and Applications in FluorescencePublisher: IOP PublishingVol: 13Issue #: 4Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1088/2050-6120/ae008fBest OA location URL: https://doi.org/10.1088/2050-6120/ae008fCitation Count: 0
-
OPENTitle: Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicityJournal Name: Acta Neuropathologica CommunicationsPublisher: Springer Science and Business Media LLCVol: 8Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/s40478-020-01004-6Best OA location URL: https://actaneurocomms.biomedcentral.com/track/pdf/10.1186/s40478-020-01004-6Citation Count: 19
-
OPENTitle: Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain AgingJournal Name: Cell ReportsPublisher: Elsevier BVVol: 18Issue #: 2Start Page: 557End Page: 570Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.celrep.2016.12.011Best OA location URL: http://www.cell.com/article/S2211124716316849/pdfCitation Count: 381
- Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans2024OPENTitle: Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in transJournal Name: eLifePublisher: eLife Sciences Publications, LtdVol: 13Issue #:Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.7554/elife.96699.3Best OA location URL: https://doi.org/10.7554/elife.96699.3Citation Count: 3
- LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophages2018OPENTitle: LRRK2 is a negative regulator of Mycobacterium tuberculosis phagosome maturation in macrophagesJournal Name: The EMBO JournalPublisher: Springer Science and Business Media LLCVol: 37Issue #: 12Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.15252/embj.201798694Best OA location URL: https://doi.org/10.15252/embj.201798694Citation Count: 164
-
OPENTitle: Virtual house calls for Parkinson disease (Connect.Parkinson): study protocol for a randomized, controlled trialJournal Name: TrialsPublisher: Springer Science and Business Media LLCVol: 15Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1186/1745-6215-15-465Best OA location URL: https://trialsjournal.biomedcentral.com/counter/pdf/10.1186/1745-6215-15-465Citation Count: 25
-
OPENTitle: Group patient visits for Parkinson diseaseJournal Name: NeurologyPublisher: Ovid Technologies (Wolters Kluwer Health)Vol: 76Issue #: 18Start Page: 1542End Page: 1547Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1212/wnl.0b013e3182194badBest OA location URL: https://n.neurology.org/content/neurology/76/18/1542.full.pdfCitation Count: 22
-
OPENTitle: powerEQTL: an R package and shiny application for sample size and power calculation of bulk tissue and single-cell eQTL analysisJournal Name: BioinformaticsPublisher: Oxford University Press (OUP)Vol: 37Issue #: 22Start Page: 4269End Page: 4271Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/bioinformatics/btab385Best OA location URL: https://doi.org/10.1093/bioinformatics/btab385Citation Count: 27
-
OPENTitle: Faster disease progression in Parkinson’s disease with type 2 diabetes is not associated with increased α‐synuclein, tau, amyloid‐β or vascular pathologyJournal Name: Neuropathology and Applied NeurobiologyPublisher: WileyVol: 47Issue #: 7Start Page: 1080End Page: 1091Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1111/nan.12728Citation Count: 30
-
OPENTitle: Crowdsourcing digital health measures to predict Parkinson’s disease severity: the Parkinson’s Disease Digital Biomarker DREAM ChallengeJournal Name: npj Digital MedicinePublisher: Springer Science and Business Media LLCVol: 4Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41746-021-00414-7Best OA location URL: https://www.nature.com/articles/s41746-021-00414-7.pdfCitation Count: 50
-
OPENTitle: African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1Journal Name: Nature Structural & Molecular BiologyPublisher: Springer Science and Business Media LLCVol: 31Issue #: 12Start Page: 1955End Page: 1963Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41594-024-01423-2Best OA location URL: https://www.nature.com/articles/s41594-024-01423-2.pdfCitation Count: 5
-
OPENTitle: AI-based differential diagnosis of dementia etiologies on multimodal dataJournal Name: Nature MedicinePublisher: Springer Science and Business Media LLCVol: 30Issue #: 10Start Page: 2977End Page: 2989Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41591-024-03118-zBest OA location URL: https://www.nature.com/articles/s41591-024-03118-z.pdfCitation Count: 85
-
OPENTitle: Association of vitamin K with cognitive decline and neuropathology in community‐dwelling older personsJournal Name: Alzheimer's & Dementia: Translational Research & Clinical InterventionsPublisher: WileyVol: 8Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/trc2.12255Best OA location URL: https://doi.org/10.1002/trc2.12255Citation Count: 42
-
OPENTitle: Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged MitochondriaJournal Name: Developmental CellPublisher: Elsevier BVVol: 44Issue #: 4Start Page: 484End Page: 499.e6Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.devcel.2018.01.007Best OA location URL: http://www.cell.com/article/S1534580718300078/pdfCitation Count: 101
-
OPENTitle: Alzheimer's Disease Sequencing Project release 4 whole genome sequencing datasetJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 21Issue #: 5Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by-ncDOI - Digital Object Identifier: 10.1002/alz.70237Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.70237Citation Count: 3
-
OPENTitle: GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10‐Year Population‐Based StudyJournal Name: Movement DisordersPublisher: WileyVol: 37Issue #: 5Start Page: 1016End Page: 1027Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/mds.28932Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28932Citation Count: 90
-
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: 2
-
OPENTitle: SARS-CoV-2 infection causes dopaminergic neuron senescenceJournal Name: Cell Stem CellPublisher: Elsevier BVVol: 31Issue #: 2Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1016/j.stem.2023.12.012Best OA location URL: https://doi.org/10.1016/j.stem.2023.12.012Citation Count: 75
- Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup2024OPENTitle: Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association WorkgroupJournal Name: Alzheimer's & DementiaPublisher: WileyVol: 20Issue #: 8Start Page: 5143End Page: 5169Publication Date:Open Access(OA) Status: OPENLicense: cc-by-nc-nd, cc-by-nc-ndDOI - Digital Object Identifier: 10.1002/alz.13859Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.13859Citation Count: 971
-
OPENTitle: CURTAIN—A unique web-based tool for exploration and sharing of MS-based proteomics dataJournal Name: Proceedings of the National Academy of SciencesPublisher: Proceedings of the National Academy of SciencesVol: 121Issue #: 7Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1073/pnas.2312676121Best OA location URL: https://www.pnas.org/doi/pdf/10.1073/pnas.2312676121Citation Count: 14
-
OPENTitle: Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950–2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of Disease Study 2021Journal Name: The LancetPublisher: Elsevier BVVol: 403Issue #: 10440Start Page: 1989End Page: 2056Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1016/s0140-6736(24)00476-8Best OA location URL: https://doi.org/10.1016/s0140-6736(24)00476-8Citation Count: 401
-
OPENTitle: Identifying and characterising sources of variability in digital outcome measures in Parkinson’s diseaseJournal Name: npj Digital MedicinePublisher: Springer Science and Business Media LLCVol: 5Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41746-022-00643-4Best OA location URL: https://www.nature.com/articles/s41746-022-00643-4.pdfCitation Count: 18
-
OPENTitle: Using a smartwatch and smartphone to assess early Parkinson’s disease in the WATCH-PD studyJournal Name: npj Parkinson's DiseasePublisher: Springer Science and Business Media LLCVol: 9Issue #: 1Start Page:End Page:Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1038/s41531-023-00497-xBest OA location URL: https://www.nature.com/articles/s41531-023-00497-x.pdfCitation Count: 60
-
OPENTitle: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationJournal Name: BrainPublisher: Oxford University Press (OUP)Vol: 143Issue #: 11Start Page: 3242End Page: 3261Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/brain/awaa304Best OA location URL: https://academic.oup.com/brain/article-pdf/143/11/3242/36134972/awaa304.pdfCitation Count: 86
-
OPENTitle: Structure-based design and characterization of Parkin-activating mutationsJournal Name: Life Science AlliancePublisher: Life Science Alliance, LLCVol: 6Issue #: 6Start Page: e202201419End Page: e202201419Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.26508/lsa.202201419Best OA location URL: https://www.life-science-alliance.org/content/lsa/6/6/e202201419.full.pdfCitation Count: 23
-
OPENTitle: A safety mechanism enables tissue-specific resistance to protein aggregation during aging in C. elegansJournal Name: PLOS BiologyPublisher: Public Library of Science (PLoS)Vol: 21Issue #: 9Start Page: e3002284End Page: e3002284Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1371/journal.pbio.3002284Best OA location URL: https://doi.org/10.1371/journal.pbio.3002284Citation Count: 7
-
OPENTitle: Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cellsJournal Name: Open BiologyPublisher: The Royal SocietyVol: 12Issue #: 1Start Page: 210264End Page: 210264Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1098/rsob.210264Best OA location URL: https://doi.org/10.1098/rsob.210264Citation Count: 38
- 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-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: 8
-
OPENTitle: Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairmentJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 7Issue #: 1Start Page: fcae453End Page: fcae453Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae453Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae453/61218229/fcae453.pdfCitation Count: 2