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MJFF Publications

8576 - 8600 of 9131 Results
Title
Year
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  • Summary Details
    OPEN
    Title: Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
    Journal Name: Genetics in Medicine
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.gim.2024.101251
    Citation Count: 3
  • Summary Details
    OPEN
    Title: Design and high-throughput implementation of MALDI-TOF/MS-based assays for Parkin E3 ligase activity
    Journal Name: Cell Reports Methods
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.crmeth.2024.100712
    Citation Count: 6
  • Summary Details
    OPEN
    Title: Predicting longitudinal brain atrophy in Parkinson’s disease using a Susceptible-Infected-Removed agent-based model
    Journal Name: Network Neuroscience
    Publisher: MIT Press
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1162/netn_a_00296
    Citation Count: 19
  • Summary Details
    OPEN
    Title: Intramitochondrial proteostasis is directly coupled to α-synuclein and amyloid β1-42 pathologies
    Journal Name: Journal of Biological Chemistry
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1074/jbc.ra119.011650
    Citation Count: 34
  • Summary Details
    OPEN
    Title: MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
    Journal Name: The American Journal of Human Genetics
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.ajhg.2025.12.015
    Citation Count: 1
  • Summary Details
    OPEN
    Title: α-Synuclein fibril and synaptic vesicle interactions lead to vesicle destruction and increased lipid-associated fibril uptake into iPSC-derived neurons
    Journal Name: Communications Biology
    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/s42003-023-04884-1
    Citation Count: 20
  • Summary Details
    OPEN
    Title: Atrophy of the Cholinergic Basal Forebrain can Detect Presynaptic Cholinergic Loss in Parkinson's Disease
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1002/ana.26596
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Cognitive impairment and dementia in Latin American individuals with parkinsonism and Parkinson's disease: A 10/66 Dementia Research Group study
    Journal Name: Alzheimer's & Dementia
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc, cc-by-nc
    DOI - Digital Object Identifier: 10.1002/alz.70371
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Novel early‐onset Alzheimer‐associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways
    Journal Name: Alzheimer's & Dementia
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc, cc-by-nc
    DOI - Digital Object Identifier: 10.1002/alz.70377
    Citation Count: 7
  • Summary Details
    OPEN
    Title: Epistatic Features and Machine Learning Improve Alzheimer’s Disease Risk Prediction Over Polygenic Risk Scores
    Journal Name: Journal of Alzheimer’s Disease
    Publisher: SAGE Publications
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.3233/jad-230236
    Citation Count: 8
  • Summary Details
    OPEN
    Title: Aberrant striatal firing mediates impulsive decision-making in a mouse model of Parkinson's disease
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/brain/awaf312
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Insights into pathophysiology, biomarkers, and therapeutics in tauopathies: Proceedings of the Tau2024 Global Conference
    Journal Name: Alzheimer's & Dementia
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1002/alz.70078
    Citation Count: 6
  • Summary Details
    OPEN
    Title: Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
    Journal Name: Nature Communications
    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/s41467-026-71351-w
    Citation Count: 1
  • Summary Details
    OPEN
    Title: LRRK2 kinase activity is necessary for development and regeneration in Nematostella vectensis
    Journal Name: Neural Development
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1186/s13064-024-00193-3
    Citation Count: 3
  • Summary Details
    OPEN
    Title: Federated learning for multi-omics: A performance evaluation in Parkinson’s disease
    Journal Name: Patterns
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1016/j.patter.2024.100945
    Citation Count: 26
  • Summary Details
    OPEN
    Title: Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits
    Journal Name: Nature Genetics
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/s41588-024-01973-7
    Citation Count: 28
  • Summary Details
    OPEN
    Title: APOE4/4 is linked to damaging lipid droplets in Alzheimer’s disease microglia
    Journal Name: Nature
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41586-024-07185-7
    Citation Count: 0
  • Summary Details
    OPEN
    Title: O-GlcNAc forces an α-synuclein amyloid strain with notably diminished seeding and pathology
    Journal Name: Nature Chemical Biology
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41589-024-01551-2
    Citation Count: 83
  • Summary Details
    OPEN
    Title: Lysosomal proteomics reveals mechanisms of neuronal APOE4-associated lysosomal dysfunction
    Journal Name: Autophagy
    Publisher: Informa UK Limited
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1080/15548627.2025.2576613
    Citation Count: 9
  • Summary Details
    OPEN
    Title: General anaesthesia decreases the uniqueness of brain functional connectivity across individuals and species
    Journal Name: Nature Human Behaviour
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41562-025-02121-9
    Citation Count: 16
  • Summary Details
    OPEN
    Title: Contributions of network structure, chemoarchitecture and diagnostic categories to transitions between cognitive topographies
    Journal Name: Nature Biomedical Engineering
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41551-024-01242-2
    Citation Count: 45
  • Summary Details
    OPEN
    Title: escheR: unified multi-dimensional visualizations with Gestalt principles
    Journal Name: Bioinformatics Advances
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/bioadv/vbad179
    Citation Count: 13
  • Summary Details
    OPEN
    Title: Community-based participatory research to guide adoption of culturally responsive trauma-informed HIV care throughout Nashville, Tennessee
    Journal Name: BMC Health Services Research
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1186/s12913-025-12954-9
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer’s disease
    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/s41598-024-65010-7
    Citation Count: 4
  • Summary Details
    OPEN
    Title: The immune-modulatory potential of helminth-derived proteins in cellular models of inflammation: a systematic review with cross-study quantitative data analysis
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1038/s41598-026-38162-x
    Citation Count: 0
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