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MJFF Publications

2901 - 2925 of 9030 Results
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  • Summary Details
    OPEN
    Title: The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.27864
    Citation Count: 70
  • Summary Details
    OPEN
    Title: Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer’s disease related proteins
    Journal Name: Molecular Neurodegeneration
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1186/s13024-022-00592-2
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies
    Journal Name: Molecular Neurodegeneration
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1186/s13024-015-0010-2
    Citation Count: 145
  • Summary Details
    OPEN
    Title: A Neo-Substrate that Amplifies Catalytic Activity of Parkinson’s-Disease-Related Kinase PINK1
    Journal Name: Cell
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/j.cell.2013.07.030
    Citation Count: 271
  • Summary Details
    OPEN
    Title: Abrogation of LRRK2 dependent Rab10 phosphorylation with TLR4 activation and alterations in evoked cytokine release in immune cells
    Journal Name: Neurochemistry International
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/j.neuint.2021.105070
    Citation Count: 29
  • Summary Details
    OPEN
    Title: Altered network stability in progressive supranuclear palsy
    Journal Name: Neurobiology of Aging
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2021.07.007
    Citation Count: 14
  • Summary Details
    OPEN
    Title: Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy
    Journal Name: Parkinsonism & Related Disorders
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd, cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1016/j.parkreldis.2020.06.030
    Citation Count: 13
  • Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
    2021
    Summary Details
    RESTRICTED
    Title: Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
    Journal Name: Journal of Medical Genetics
    Publisher: BMJ
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1136/jmedgenet-2021-107758
    Citation Count: 6
  • Summary Details
    OPEN
    Title: LRRK2: an éminence grise of Wnt-mediated neurogenesis?
    Journal Name: Frontiers in Cellular Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.3389/fncel.2013.00082
    Citation Count: 31
  • Summary Details
    OPEN
    Title: Parkin is activated by PINK1-dependent phosphorylation of ubiquitin at Ser65
    Journal Name: Biochemical Journal
    Publisher: Portland Press Ltd.
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1042/bj20140334
    Citation Count: 808
  • Summary Details
    OPEN
    Title: Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser910/Ser935, disruption of 14-3-3 binding and altered cytoplasmic localization
    Journal Name: Biochemical Journal
    Publisher: Portland Press Ltd.
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1042/bj20100784
    Citation Count: 385
  • Summary Details
    OPEN
    Title: Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
    Journal Name: Human Molecular Genetics
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/hmg/ddu334
    Citation Count: 240
  • Summary Details
    OPEN
    Title: Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
    Journal Name: Human Molecular Genetics
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/hmg/ddw348
    Citation Count: 59
  • Summary Details
    OPEN
    Title: A novel resource for studying function and dysfunction of α-synuclein: mouse lines for modulation of endogenous Snca gene expression
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1038/srep16615
    Citation Count: 28
  • Summary Details
    OPEN
    Title: GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd, cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1038/srep00695
    Citation Count: 13
  • Summary Details
    OPEN
    Title: Genetic impact on cognition and brain function in newly diagnosed Parkinson’s disease: ICICLE-PD study
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awu201
    Citation Count: 147
  • Summary Details
    OPEN
    Title: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awu179
    Citation Count: 198
  • Summary Details
    OPEN
    Title: Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus
    Journal Name: PLoS ONE
    Publisher: Public Library of Science (PLoS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1371/journal.pone.0070724
    Citation Count: 46
  • Summary Details
    OPEN
    Title: Computational analysis of the LRRK2 interactome
    Journal Name: PeerJ
    Publisher: PeerJ
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.7717/peerj.778
    Citation Count: 58
  • Summary Details
    OPEN
    Title: The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons
    Journal Name: Acta Neuropathologica
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1007/s00401-013-1219-1
    Citation Count: 35
  • Summary Details
    OPEN
    Title: GTP binding controls complex formation by the human ROCO protein MASL1
    Journal Name: The FEBS Journal
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1111/febs.12593
    Citation Count: 13
  • Summary Details
    OPEN
    Title: Pantothenate kinase‐associated neurodegeneration is not a synucleinopathy
    Journal Name: Neuropathology and Applied Neurobiology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: unspecified-oa, unspecified-oa
    DOI - Digital Object Identifier: 10.1111/j.1365-2990.2012.01269.x
    Citation Count: 55
  • Summary Details
    OPEN
    Title: Editorial: Non-neuronal cell heterogeneity in the nervous system during health and disease
    Journal Name: Frontiers in Cellular Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.3389/fncel.2022.1047296
    Citation Count: 1
  • Summary Details
    OPEN
    Title: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awaa304
    Citation Count: 110
  • Summary Details
    OPEN
    Title: Falls Risk in Relation to Activity Exposure in High-Risk Older Adults
    Journal Name: The Journals of Gerontology: Series A
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/gerona/glaa007
    Citation Count: 84
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