3041 - 3050 of 6465 Results
Title
Year
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OPENTitle: Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasisJournal Name: The EMBO JournalPublisher: Springer Science and Business Media LLCVol: 41Issue #: 2Start Page: e105531End Page: e105531Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.15252/embj.2020105531Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/8762563Citation Count: 29
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OPENTitle: Neurofilament light as a biomarker for motor decline in Parkinson’s diseaseJournal Name: Frontiers in NeurosciencePublisher: Frontiers Media SAVol: 16Issue #:Start Page: 959261End Page: 959261Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.3389/fnins.2022.959261Best OA location URL: https://doi.org/10.3389/fnins.2022.959261Citation Count: 30
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OPENTitle: GRN Mutations Are Associated with Lewy Body DementiaJournal Name: Movement DisordersPublisher: WileyVol: 37Issue #: 9Start Page: 1943End Page: 1948Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/mds.29144Best OA location URL: http://orbilu.uni.lu/handle/10993/51636Citation Count: 23
- Deep Learning for Daily Monitoring of Parkinson’s Disease Outside the Clinic Using Wearable Sensors2022OPENTitle: Deep Learning for Daily Monitoring of Parkinson’s Disease Outside the Clinic Using Wearable SensorsJournal Name: SensorsPublisher: MDPI AGVol: 22Issue #: 18Start Page: 6831End Page: 6831Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.3390/s22186831Best OA location URL: https://www.mdpi.com/1424-8220/22/18/6831/pdf?version=1662721899Citation Count: 26
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OPENTitle: Fist-Palm Test (FiPaT): a bedside motor tool to screen for global cognitive statusJournal Name: Neurological SciencesPublisher: Springer Science and Business Media LLCVol: 43Issue #: 9Start Page: 5251End Page: 5258Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1007/s10072-022-06129-1Best OA location URL: https://link.springer.com/content/pdf/10.1007/s10072-022-06129-1.pdfCitation Count: 1
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OPENTitle: PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson’s disease in IrelandJournal Name: Irish Journal of Medical Science (1971 -)Publisher: Springer Science and Business Media LLCVol: 191Issue #: 2Start Page: 901End Page: 907Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s11845-021-02563-wBest OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/9376961Citation Count: 13
- 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
- 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-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: 13
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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-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: 3
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OPENTitle: Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsJournal Name: Brain CommunicationsPublisher: Oxford University Press (OUP)Vol: 6Issue #: 6Start Page: fcae377End Page: fcae377Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1093/braincomms/fcae377Best OA location URL: https://doi.org/10.1093/braincomms/fcae377Citation Count: 6