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MJFF Publications

4001 - 4050 of 6465 Results
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  • Summary Details
    OPEN
    Title: Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
    Journal Name: Current Neuropharmacology
    Publisher: Bentham Science Publishers Ltd.
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.2174/157015913804999469
    Citation Count: 127
  • Summary Details
    OPEN
    Title: Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
    Journal Name: PLoS ONE
    Publisher: Public Library of Science (PLoS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc0, cc0
    DOI - Digital Object Identifier: 10.1371/journal.pone.0043099
    Citation Count: 141
  • Summary Details
    OPEN
    Title: A Tangled Web – Tau and Sporadic Parkinson's Disease
    Journal Name: Frontiers in Psychiatry
    Publisher: Frontiers Media SA
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.3389/fpsyt.2010.00150
    Citation Count: 32
  • Summary Details
    OPEN
    Title: The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1002/mds.30077
    Citation Count: 5
  • Summary Details
    OPEN
    Title: Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
    Journal Name: eBioMedicine
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1016/j.ebiom.2024.105297
    Citation Count: 12
  • Summary Details
    OPEN
    Title: ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy
    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.2025.101506
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Genotype–phenotype correlation in PRKN-associated 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/s41531-024-00677-3
    Citation Count: 58
  • 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
    DOI - Digital Object Identifier: 10.1038/s41531-024-00778-z
    Citation Count: 25
  • Summary Details
    OPEN
    Title: Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: public-domain, public-domain
    DOI - Digital Object Identifier: 10.1093/brain/awad427
    Citation Count: 23
  • Summary Details
    OPEN
    Title: Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/brain/awaf202
    Citation Count: 3
  • Summary Details
    OPEN
    Title: Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcae163
    Citation Count: 2
  • Summary Details
    OPEN
    Title: Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation
    Journal Name: Biochemical and Biophysical Research Communications
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.bbrc.2013.10.159
    Citation Count: 86
  • Summary Details
    OPEN
    Title: Hippocampal Neuroinflammation, Functional Connectivity, and Depressive Symptoms in Multiple Sclerosis
    Journal Name: Biological Psychiatry
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.biopsych.2015.11.022
    Citation Count: 148
  • Summary Details
    OPEN
    Title: Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.25706
    Citation Count: 66
  • Summary Details
    OPEN
    Title: Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy
    Journal Name: Acta Neuropathologica Communications
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1186/s40478-015-0221-3
    Citation Count: 59
  • 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: 148
  • Summary Details
    OPEN
    Title: Rare variants in LRRK1 and Parkinson's disease
    Journal Name: neurogenetics
    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/s10048-013-0383-8
    Citation Count: 33
  • Summary Details
    OPEN
    Title: TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1002/ana.23999
    Citation Count: 92
  • Summary Details
    OPEN
    Title: Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    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/dds161
    Citation Count: 237
  • Summary Details
    OPEN
    Title: Benchmarking macaque brain gene expression for horizontal and vertical translation
    Journal Name: Science Advances
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1126/sciadv.ads6967
    Citation Count: 12
  • 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: 274
  • Summary Details
    OPEN
    Title: Group patient visits for Parkinson disease
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e3182194bad
    Citation Count: 22
  • Summary Details
    OPEN
    Title: Virtual house calls for Parkinson disease (Connect.Parkinson): study protocol for a randomized, controlled trial
    Journal Name: Trials
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1186/1745-6215-15-465
    Citation Count: 29
  • Summary Details
    OPEN
    Title: Nanostars Carrying Multifunctional Neurotrophic Dendrimers Protect Neurons in Preclinical In Vitro Models of Neurodegenerative Disorders
    Journal Name: ACS Applied Materials & Interfaces
    Publisher: American Chemical Society (ACS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1021/acsami.2c14220
    Citation Count: 24
  • Summary Details
    OPEN
    Title: Millisecond Hydrogen/Deuterium-Exchange Mass Spectrometry Approach to Correlate Local Structure and Aggregation in α-Synuclein
    Journal Name: Analytical Chemistry
    Publisher: American Chemical Society (ACS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1021/acs.analchem.2c03183
    Citation Count: 29
  • Summary Details
    OPEN
    Title: A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
    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/ddz070
    Citation Count: 48
  • Summary Details
    OPEN
    Title: Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload
    Journal Name: Cell Death & Differentiation
    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/s41418-019-0442-2
    Citation Count: 41
  • Summary Details
    OPEN
    Title: Molecular Mechanisms of Cationic Fusogenic Liposome Interactions with Bacterial Envelopes
    Journal Name: Journal of the American Chemical Society
    Publisher: American Chemical Society (ACS)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1021/jacs.3c11463
    Citation Count: 63
  • Summary Details
    OPEN
    Title: Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
    Journal Name: The Lancet Neurology
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/s1474-4422(17)30400-3
    Citation Count: 292
  • Summary Details
    OPEN
    Title: Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
    Journal Name: The Lancet Neurology
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/s1474-4422(18)30126-1
    Citation Count: 130
  • 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
  • Summary Details
    OPEN
    Title: Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
    Journal Name: Parkinsonism & Related Disorders
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/j.parkreldis.2020.01.017
    Citation Count: 8
  • Summary Details
    OPEN
    Title: Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study
    Journal Name: The Lancet Neurology
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/s1474-4422(20)30394-x
    Citation Count: 120
  • Summary Details
    OPEN
    Title: mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1
    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/srep35106
    Citation Count: 81
  • Summary Details
    OPEN
    Title: Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
    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/s41588-021-00785-3
    Citation Count: 485
  • Risk of Parkinson's disease dementia related to level I MDS PD‐MCI
    2019
    Summary Details
    OPEN
    Title: Risk of Parkinson's disease dementia related to level I MDS PD‐MCI
    Journal Name: Movement Disorders
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.27617
    Citation Count: 65
  • Summary Details
    OPEN
    Title: Optical Structural Analysis of Individual α‐Synuclein Oligomers
    Journal Name: Angewandte Chemie
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1002/ange.201710779
    Citation Count: 0
  • Summary Details
    OPEN
    Title: Corneal confocal microscopy detects small fibre neurodegeneration in Parkinson's disease using automated analysis
    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/s41598-020-76768-x
    Citation Count: 24
  • Summary Details
    OPEN
    Title: Variations in Cardiovascular Structure, Function, and Geometry in Midlife Associated With a History of Hypertensive Pregnancy
    Journal Name: Hypertension
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1161/hypertensionaha.119.14530
    Citation Count: 65
  • Summary Details
    OPEN
    Title: Prevalence of parkinsonism and Parkinson disease in urban and rural populations from Latin America: A community based study
    Journal Name: The Lancet Regional Health - Americas
    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.lana.2021.100136
    Citation Count: 42
  • Summary Details
    OPEN
    Title: Impact ofGBA1variants on long-term clinical progression and mortality in incident Parkinson’s disease
    Journal Name: Journal of Neurology, Neurosurgery & Psychiatry
    Publisher: BMJ
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1136/jnnp-2020-322857
    Citation Count: 95
  • Summary Details
    OPEN
    Title: Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes
    Journal Name: Journal of Neurology, Neurosurgery & Psychiatry
    Publisher: BMJ
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1136/jnnp-2018-320151
    Citation Count: 62
  • Summary Details
    OPEN
    Title: Downregulation of Dickkopf-3, a Wnt antagonist elevated in Alzheimer’s disease, restores synapse integrity and memory in a disease mouse model
    Journal Name: eLife
    Publisher: eLife Sciences Publications, Ltd
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.7554/elife.89453.3
    Citation Count: 14
  • Summary Details
    OPEN
    Title: Revised criteria for the diagnosis and staging of Alzheimer’s disease
    Journal Name: Nature Medicine
    Publisher: Springer Science and Business Media LLC
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/s41591-024-02988-7
    Citation Count: 165
  • Summary Details
    OPEN
    Title: Shared and disease-specific pathways in frontotemporal dementia and Alzheimer’s and Parkinson’s diseases
    Journal Name: Nature Medicine
    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/s41591-025-03833-1
    Citation Count: 26
  • Faster disease progression in Parkinson’s disease with type 2 diabetes is not associated with increased α‐synuclein, tau, amyloid‐β or vascular pathology
    2021
    Summary Details
    OPEN
    Title: Faster disease progression in Parkinson’s disease with type 2 diabetes is not associated with increased α‐synuclein, tau, amyloid‐β or vascular pathology
    Journal Name: Neuropathology and Applied Neurobiology
    Publisher: Wiley
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/nan.12728
    Citation Count: 43
  • Summary Details
    OPEN
    Title: Testing a longitudinal compensation model in premanifest Huntington’s disease
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/brain/awy122
    Citation Count: 49
  • Summary Details
    OPEN
    Title: Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data
    Journal Name: The Lancet Neurology
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1016/s1474-4422(16)00071-5
    Citation Count: 96
  • Summary Details
    OPEN
    Title: Severe cholinergic terminal loss in newly diagnosed dementia with Lewy bodies
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awad192
    Citation Count: 52
  • Summary Details
    OPEN
    Title: Novel LRR-ROC Motif That Links the N- and C-terminal Domains in LRRK2 Undergoes an Order–Disorder Transition Upon Activation
    Journal Name: Journal of Molecular Biology
    Publisher: Elsevier BV
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1016/j.jmb.2023.167999
    Citation Count: 23
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