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MJFF Publications

2701 - 2750 of 8808 Results
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  • Summary Details
    OPEN
    Title: A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
    Journal Name: Genes
    Publisher: MDPI AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by, cc-by
    DOI - Digital Object Identifier: 10.3390/genes15091203
    Citation Count: 1
  • Summary Details
    OPEN
    Title: APOE contributes to longitudinal impulse control disorders progression in Parkinson’s disease
    Journal Name: BMC Psychiatry
    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/s12888-024-06084-5
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Surface‐Based Morphometry Analysis of the Cerebral Cortex in Patients With Probable Idiopathic Rapid Eye Movement Sleep Behavior Disorder
    Journal Name: Brain and Behavior
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1002/brb3.70057
    Citation Count: 1
  • Summary Details
    OPEN
    Title: An interpretable deep learning framework identifies proteomic drivers of Alzheimer’s disease
    Journal Name: Frontiers in Cell and Developmental Biology
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fcell.2024.1379984
    Citation Count: 5
  • Summary Details
    OPEN
    Title: Olfactory impairment in Wilson’s disease
    Journal Name: Brain and Behavior
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1002/brb3.2022
    Citation Count: 14
  • Summary Details
    OPEN
    Title: AI-based differential diagnosis of dementia etiologies on multimodal data
    Journal Name: Nature Medicine
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41591-024-03118-z
    Citation Count: 85
  • Summary Details
    OPEN
    Title: Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease
    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, cc-by, cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-024-00778-z
    Citation Count: 8
  • Summary Details
    OPEN
    Title: Network Analysis of the CSF Proteome Characterizes Convergent Pathways of Cellular Dysfunction in ALS
    Journal Name: Frontiers in Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fnins.2021.642324
    Citation Count: 8
  • Summary Details
    OPEN
    Title: Participant-reported personal utility of genetic testing for Parkinson’s disease and interest in clinical trial participation
    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/s41531-024-00805-z
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Randomized crossover trial on motor and non-motor outcome of directional deep brain stimulation in Parkinson’s disease
    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/s41531-024-00812-0
    Citation Count: 3
  • Summary Details
    OPEN
    Title: Structural basis of epitope recognition by anti-alpha-synuclein antibodies MJFR14-6-4-2
    Journal Name: npj Parkinson's Disease
    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/s41531-024-00822-y
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Temporal evolution of microstructural integrity in cerebellar peduncles in Parkinson’s disease: Stage-specific patterns and dopaminergic correlates
    Journal Name: NeuroImage: Clinical
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1016/j.nicl.2024.103679
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Sigma‐2 receptor antagonists rescue neuronal dysfunction induced by Parkinson’s patient brain‐derived α‐synuclein
    Journal Name: Journal of Neuroscience Research
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/jnr.24782
    Citation Count: 33
  • Summary Details
    OPEN
    Title: Impact of excessive daytime sleepiness on the progression of freezing of gait in de novo Parkinson’s disease: a cohort study
    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/s10072-024-07738-8
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Differential Impact of Risk Factors for Cognitive Decline in Heterosexual and Sexual Minority Older Adults in England
    Journal Name: Brain Sciences
    Publisher: MDPI AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3390/brainsci15010090
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Functionally active modulators targeting the LRRK2 WD40 repeat domain identified by FRASE-bot in CACHE Challenge #1
    Journal Name: Chemical Science
    Publisher: Royal Society of Chemistry (RSC)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1039/d4sc07532c
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Alpha synuclein overexpression can drive microbiome dysbiosis in mice
    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/s41598-024-82139-7
    Citation Count: 4
  • Summary Details
    OPEN
    Title: Iron deposition is associated with motor and non-motor network breakdown in parkinsonism
    Journal Name: Frontiers in Aging Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fnagi.2024.1518155
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Transcriptomics profiling of Parkinson’s disease progression subtypes reveals distinctive patterns of gene expression
    Journal Name: Journal of Central Nervous System Disease
    Publisher: SAGE Publications
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1177/11795735241286821
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Domain‐Specific Prediction of Clinical Progression in Parkinson's Disease Using the Mosaic Approach
    Journal Name: Brain and Behavior
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1002/brb3.70289
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Anti-Tetanus Vaccination Is Associated with Reduced Occurrence and Slower Progression of Parkinson’s Disease—A Retrospective Study
    Journal Name: Biomedicines
    Publisher: MDPI AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3390/biomedicines12122687
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Temporal Trends in Hippocampal Sclerosis Surgery: An Observational Study From a Tertiary Epilepsy Centre
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1111/ene.70041
    Citation Count: 1
  • Summary Details
    OPEN
    Title: The TOPAZ study: a home-based trial of zoledronic acid to prevent fractures in neurodegenerative parkinsonism
    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/s41531-021-00162-1
    Citation Count: 18
  • Summary Details
    OPEN
    Title: Olfactory Dysfunction and Long-Term Trajectories of Sleep Disorders among early Parkinson’s Disease: Findings from a Longitudinal Cohort
    Journal Name: Neuroepidemiology
    Publisher: S. Karger AG
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1159/000539330
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment
    Journal Name: Nature Communications
    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/s41467-025-56293-z
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Real‐world smartphone data can trace the behavioural impact of epilepsy: A case study
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1111/ene.16433
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Longitudinal decline in DAT binding in Parkinson’s disease: connections with sleep disturbances
    Journal Name: BMC Medicine
    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/s12916-024-03766-5
    Citation Count: 1
  • Summary Details
    OPEN
    Title: A multi-region single nucleus transcriptomic atlas of Parkinson’s disease
    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/s41597-024-04117-y
    Citation Count: 0
  • Summary Details
    OPEN
    Title: A growth-factor-activated lysosomal K+ channel regulates Parkinson’s pathology
    Journal Name: Nature
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/s41586-021-03185-z
    Citation Count: 98
  • Summary Details
    OPEN
    Title: Longitudinal correlation of cerebrospinal fluid GFAP and the progression of cognition decline in different clinical subtypes of Parkinson's disease
    Journal Name: Clinical and Translational Science
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1111/cts.70111
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Respiratory Dysfunction and Abnormal Hypoxic Ventilatory Response in Mild to Moderate Parkinson's Disease
    Journal Name: Movement Disorders Clinical Practice
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1002/mdc3.14249
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Temporal control of acute protein aggregate turnover by UBE3C and NRF1-dependent proteasomal pathways
    Journal Name: Proceedings of the National Academy of Sciences
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1073/pnas.2417390121
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Pyk2 overexpression in postsynaptic neurons blocks amyloid β1–42-induced synaptotoxicity in microfluidic co-cultures
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcaa139
    Citation Count: 21
  • Summary Details
    OPEN
    Title: African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
    Journal Name: Nature Structural & Molecular Biology
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by, cc-by
    DOI - Digital Object Identifier: 10.1038/s41594-024-01423-2
    Citation Count: 5
  • Summary Details
    OPEN
    Title: Sustained effect of prasinezumab on Parkinson’s disease motor progression in the open-label extension of the PASADENA trial
    Journal Name: Nature Medicine
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41591-024-03270-6
    Citation Count: 18
  • Summary Details
    OPEN
    Title: TNFRSF1B Gene Variants and Related Soluble TNFR2 Levels Impact Resilience in Alzheimer's Disease
    Journal Name: Frontiers in Aging Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fnagi.2021.638922
    Citation Count: 18
  • Summary Details
    OPEN
    Title: A proteome-wide quantitative platform for nanoscale spatially resolved extraction of membrane proteins into native nanodiscs
    Journal Name: Nature Methods
    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/s41592-024-02517-x
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Mitofusin 2 displays fusion-independent roles in proteostasis surveillance
    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/s41467-025-56673-5
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain
    Journal Name: Proceedings of the National Academy of Sciences
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by, cc-by
    DOI - Digital Object Identifier: 10.1073/pnas.2412029122
    Citation Count: 3
  • Summary Details
    RESTRICTED
    Title: Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases
    Journal Name: Acta Neuropathologica
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1007/s00401-023-02661-2
    Citation Count: 11
  • Summary Details
    OPEN
    Title: Self-supervised identification and elimination of harmful datasets in distributed machine learning for medical image analysis
    Journal Name: npj Digital Medicine
    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/s41746-025-01499-0
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Identification of Parkinson’s disease using MRI and genetic data from the PPMI cohort: an improved machine learning fusion approach
    Journal Name: Frontiers in Aging Neuroscience
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fnagi.2025.1510192
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease
    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/s41531-025-00881-9
    Citation Count: 9
  • Summary Details
    OPEN
    Title: Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/mds.30081
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in Dystonia
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/mds.30066
    Citation Count: 3
  • Summary Details
    OPEN
    Title: Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells
    Journal Name: PLOS One
    Publisher: Public Library of Science (PLoS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1371/journal.pone.0323136
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Effective integration of multi-omics with prior knowledge to identify biomarkers via explainable graph neural networks
    Journal Name: npj Systems Biology and Applications
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41540-025-00519-9
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Data-driven characterization of distinct cognitive subtypes in Parkinson’s disease dementia
    Journal Name: npj Parkinson's Disease
    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/s41531-025-00970-9
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Is Gauchian genotyping of GBA1 variants reliable?
    Journal Name: Communications Biology
    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/s42003-025-08059-y
    Citation Count: 1
  • Summary Details
    OPEN
    Title: Reply to: Is Gauchian genotyping of GBA1 variants reliable?
    Journal Name: Communications Biology
    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/s42003-025-08060-5
    Citation Count: 0
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