3176 - 3200 of 8620 Results
Title
Year
- Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities2020OPENTitle: Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesJournal Name: Annals of NeurologyPublisher: WileyVol: 88Issue #: 5Start Page: 867End Page: 877Publication Date:Open Access(OA) Status: OPENLicense: cc-by, cc-byDOI - Digital Object Identifier: 10.1002/ana.25879Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879Citation Count: 92
- Multiple reaction monitoring (MRM)‐profiling for biomarker discovery applied to human polycystic ovarian syndrome2017RESTRICTEDTitle: Multiple reaction monitoring (MRM)‐profiling for biomarker discovery applied to human polycystic ovarian syndromeJournal Name: Rapid Communications in Mass SpectrometryPublisher: WileyVol: 31Issue #: 17Start Page: 1462End Page: 1470Publication Date:Open Access(OA) Status: RESTRICTEDLicense:DOI - Digital Object Identifier: 10.1002/rcm.7927Citation Count: 35
- Similar striatal D2/D3 dopamine receptor availability in adults with Tourette syndrome compared with healthy controls: A [11C]‐(+)‐PHNO and [11C]raclopride positron emission tomography imaging study2015OPENTitle: Similar striatal D2/D3 dopamine receptor availability in adults with Tourette syndrome compared with healthy controls: A [11C]‐(+)‐PHNO and [11C]raclopride positron emission tomography imaging studyJournal Name: Human Brain MappingPublisher: WileyVol: 36Issue #: 7Start Page: 2592End Page: 2601Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.22793Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hbm.22793?download=trueCitation Count: 19
- Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway2017OPENTitle: Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathwayJournal Name: HippocampusPublisher: WileyVol: 27Issue #: 7Start Page: 784End Page: 793Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hipo.22731Best OA location URL: https://europepmc.org/articles/pmc5501956?pdf=renderCitation Count: 22
- Hippocampal (subfield) volume and shape in relation to cognitive performance across the adult lifespan2015OPENTitle: Hippocampal (subfield) volume and shape in relation to cognitive performance across the adult lifespanJournal Name: Human Brain MappingPublisher: WileyVol: 36Issue #: 8Start Page: 3020End Page: 3037Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.22825Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/6869683Citation Count: 97
- Free‐water and BOLD imaging changes in Parkinson's disease patients chronically treated with a MAO‐B inhibitor2016OPENTitle: Free‐water and BOLD imaging changes in Parkinson's disease patients chronically treated with a MAO‐B inhibitorJournal Name: Human Brain MappingPublisher: WileyVol: 37Issue #: 8Start Page: 2894End Page: 2903Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.23213Citation Count: 37
- The human subthalamic nucleus and globus pallidus internus differentially encode reward during action control2017OPENTitle: The human subthalamic nucleus and globus pallidus internus differentially encode reward during action controlJournal Name: Human Brain MappingPublisher: WileyVol: 38Issue #: 4Start Page: 1952End Page: 1964Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.23496Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hbm.23496Citation Count: 29
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OPENTitle: Cortical surface‐based threshold‐free cluster enhancement and cortexwise mediationJournal Name: Human Brain MappingPublisher: WileyVol: 38Issue #: 6Start Page: 2795End Page: 2807Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.23563Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hbm.23563Citation Count: 22
- Your algorithm might think the hippocampus grows in Alzheimer's disease: Caveats of longitudinal automated hippocampal volumetry2017OPENTitle: Your algorithm might think the hippocampus grows in Alzheimer's disease: Caveats of longitudinal automated hippocampal volumetryJournal Name: Human Brain MappingPublisher: WileyVol: 38Issue #: 6Start Page: 2875End Page: 2896Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1002/hbm.23559Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hbm.23559Citation Count: 25
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OPENTitle: Parkinson disease loci in the mid-western AmishJournal Name: Human GeneticsPublisher: Springer Science and Business Media LLCVol: 132Issue #: 11Start Page: 1213End Page: 1221Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1007/s00439-013-1316-1Best OA location URL: http://doi.org/10.1007/s00439-013-1316-1Citation Count: 16
- PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity2011OPENTitle: PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrityJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 21Issue #: 8Start Page: 1725End Page: 1743Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddr606Best OA location URL: https://academic.oup.com/hmg/article-pdf/21/8/1725/17258592/ddr606.pdfCitation Count: 158
- Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy2012OPENTitle: Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagyJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 21Issue #: 10Start Page: 2245End Page: 2262Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/dds040Best OA location URL: https://academic.oup.com/hmg/article-pdf/21/10/2245/17254728/dds040.pdfCitation Count: 268
- Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases2012OPENTitle: Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 21Issue #: 15Start Page: 3500End Page: 3512Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/dds161Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/3392107Citation Count: 223
- LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP62012OPENTitle: LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6Journal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 21Issue #: 22Start Page: 4966End Page: 4979Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/dds342Best OA location URL: https://academic.oup.com/hmg/article-pdf/21/22/4966/17257652/dds342.pdfCitation Count: 99
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OPENTitle: LRRK2 secretion in exosomes is regulated by 14-3-3Journal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 22Issue #: 24Start Page: 4988End Page: 5000Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddt346Best OA location URL: https://academic.oup.com/hmg/article-pdf/22/24/4988/14140078/ddt346.pdfCitation Count: 161
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OPENTitle: Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicityJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 22Issue #: 2Start Page: 328End Page: 344Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/dds431Best OA location URL: https://academic.oup.com/hmg/article-pdf/22/2/328/1857445/dds431.pdfCitation Count: 76
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OPENTitle: In vitro-differentiated neural cell cultures progress towards donor-identical brain tissueJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 22Issue #: 17Start Page: 3534End Page: 3546Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddt208Citation Count: 23
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OPENTitle: Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegenerationJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 17Start Page: 4621End Page: 4638Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddu178Best OA location URL: https://academic.oup.com/hmg/article-pdf/23/17/4621/2215861/ddu178.pdfCitation Count: 148
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OPENTitle: DNAJC13 mutations in Parkinson diseaseJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 7Start Page: 1794End Page: 1801Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddt570Best OA location URL: http://doi.org/10.1093/hmg/ddt570Citation Count: 300
- Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies2014OPENTitle: Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodiesJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 23Start Page: 6139End Page: 6146Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddu334Best OA location URL: http://doi.org/10.1093/hmg/ddu334Citation Count: 215
- Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily2013OPENTitle: Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamilyJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 8Start Page: 2055End Page: 2077Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/hmg/ddt600Best OA location URL: https://academic.oup.com/hmg/article-pdf/23/8/2055/14143078/ddt600.pdfCitation Count: 124
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OPENTitle: Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypesJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 17Start Page: 4693End Page: 4702Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddu158Best OA location URL: https://academic.oup.com/hmg/article-pdf/23/17/4693/2193406/ddu158.pdfCitation Count: 61
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OPENTitle: Membrane recruitment of endogenous LRRK2 precedes its potent regulation of autophagyJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 23Issue #: 16Start Page: 4201End Page: 4214Publication Date:Open Access(OA) Status: OPENLicense:DOI - Digital Object Identifier: 10.1093/hmg/ddu138Best OA location URL: https://academic.oup.com/hmg/article-pdf/23/16/4201/1737006/ddu138.pdfCitation Count: 220
- Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance2016OPENTitle: Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritanceJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol:Issue #:Start Page: ddw348End Page: ddw348Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/hmg/ddw348Best OA location URL: https://academic.oup.com/hmg/article-pdf/25/24/5483/10408585/ddw348.pdfCitation Count: 50
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OPENTitle: NEDD4-mediated HSF1 degradation underlies α-synucleinopathyJournal Name: Human Molecular GeneticsPublisher: Oxford University Press (OUP)Vol: 25Issue #: 2Start Page: 211End Page: 222Publication Date:Open Access(OA) Status: OPENLicense: cc-byDOI - Digital Object Identifier: 10.1093/hmg/ddv445Best OA location URL: https://academic.oup.com/hmg/article-pdf/25/2/211/18526601/ddv445.pdfCitation Count: 84