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MJFF Publications

5151 - 5175 of 9118 Results
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  • Summary Details
    OPEN
    Title: Systematic Functional Analysis of PINK1 and PRKN Coding Variants
    Journal Name: Cells
    Publisher: MDPI AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3390/cells11152426
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Fist-Palm Test (FiPaT): a bedside motor tool to screen for global cognitive status
    Journal Name: Neurological Sciences
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1007/s10072-022-06129-1
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Multimodal deep learning for Alzheimer’s disease dementia assessment
    Journal Name: Nature Communications
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41467-022-31037-5
    Citation Count: 365
  • Summary Details
    OPEN
    Title: Satellite repeat transcripts modulate heterochromatin condensates and safeguard chromosome stability in mouse embryonic stem cells
    Journal Name: Nature Communications
    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/s41467-022-31198-3
    Citation Count: 60
  • Summary Details
    OPEN
    Title: Integrating Data Directly into Publications with Augmented Reality and Web-Based Technologies – Schol-AR
    Journal Name: Scientific Data
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41597-022-01426-y
    Citation Count: 14
  • Summary Details
    OPEN
    Title: Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
    Journal Name: iScience
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1016/j.isci.2022.104476
    Citation Count: 27
  • Summary Details
    OPEN
    Title: Differential impact of individual autonomic domains on clinical outcomes in Parkinson’s disease
    Journal Name: Journal of Neurology
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1007/s00415-022-11221-9
    Citation Count: 28
  • Summary Details
    OPEN
    Title: Lipase regulation of cellular fatty acid homeostasis as a Parkinson’s disease therapeutic strategy
    Journal Name: npj Parkinson's Disease
    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/s41531-022-00335-6
    Citation Count: 23
  • Summary Details
    OPEN
    Title: Distinct profiles of LRRK2 activation and Rab GTPase phosphorylation in clinical samples from different PD cohorts
    Journal Name: npj Parkinson's Disease
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-022-00336-5
    Citation Count: 22
  • Summary Details
    OPEN
    Title: Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain
    Journal Name: Nature Neuroscience
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/s41593-022-01031-7
    Citation Count: 71
  • Summary Details
    OPEN
    Title: Loss of tau expression attenuates neurodegeneration associated with α-synucleinopathy
    Journal Name: Translational Neurodegeneration
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1186/s40035-022-00309-x
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Pathway‐Specific Remodeling of Thalamostriatal Synapses in a Mouse Model of Parkinson's Disease
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1002/mds.29030
    Citation Count: 16
  • Summary Details
    OPEN
    Title: De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.28959
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Integrating human brain proteomes with genome-wide association data implicates novel proteins in post-traumatic stress disorder
    Journal Name: Molecular Psychiatry
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/s41380-022-01544-4
    Citation Count: 38
  • Summary Details
    OPEN
    Title: A Modified Progressive Supranuclear Palsy Rating Scale for Virtual Assessments
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.28991
    Citation Count: 15
  • Summary Details
    OPEN
    Title: WHOPPA Enables Parallel Assessment of Leucine-Rich Repeat Kinase 2 and Glucocerebrosidase Enzymatic Activity in Parkinson’s Disease Monocytes
    Journal Name: Frontiers in Cellular Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fncel.2022.892899
    Citation Count: 29
  • Summary Details
    OPEN
    Title: Clinical Outcome and Striatal Dopaminergic Function After Shunt Surgery in Patients With Idiopathic Normal Pressure Hydrocephalus
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0000000000012064
    Citation Count: 39
  • Summary Details
    OPEN
    Title: Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression
    Journal Name: The American Journal of Human Genetics
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: publisher-specific-oa
    DOI - Digital Object Identifier: 10.1016/j.ajhg.2021.03.016
    Citation Count: 47
  • Summary Details
    OPEN
    Title: Rare CASP6N73T variant associated with hippocampal volume exhibits decreased proteolytic activity, synaptic transmission defect, and neurodegeneration
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41598-021-91367-0
    Citation Count: 13
  • Summary Details
    OPEN
    Title: An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein
    Journal Name: Cell Reports
    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.celrep.2021.109189
    Citation Count: 13
  • Summary Details
    OPEN
    Title: ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy
    Journal Name: Proceedings of the National Academy of Sciences
    Publisher: National Academy of Sciences
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1073/pnas.2025053118
    Citation Count: 102
  • Summary Details
    OPEN
    Title: Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41598-021-91943-4
    Citation Count: 60
  • Summary Details
    OPEN
    Title: Swarm Learning for decentralized and confidential clinical machine learning
    Journal Name: Nature
    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/s41586-021-03583-3
    Citation Count: 838
  • Summary Details
    OPEN
    Title: A Genetic Study of Cerebral Atherosclerosis Reveals Novel Associations with NTNG1 and CNOT3
    Journal Name: Genes
    Publisher: MDPI AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3390/genes12060815
    Citation Count: 9
  • Summary Details
    OPEN
    Title: Cognitive function in men with non-motor features of Parkinson’s disease
    Journal Name: BMJ Neurology Open
    Publisher: BMJ
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1136/bmjno-2020-000112
    Citation Count: 10
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