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Genome sequence analyses identify novel risk loci for multiple system atrophy
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease
characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and …
characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and …
Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view
KA Jellinger - Journal of Neural Transmission, 2025 - Springer
Multiple system atrophy (MSA), corticobasal degeneration (CBD) and progressive
supranuclear palsy (PSP) are the most common atypical parkinsonisms. These adult-onset …
supranuclear palsy (PSP) are the most common atypical parkinsonisms. These adult-onset …
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
F Küçükali, E Hill, T Watzeels, H Hummerich… - Brain, 2025 - academic.oup.com
Prions are assemblies of misfolded prion protein that cause several fatal and transmissible
neurodegenerative diseases, with the most common phenotype in humans being sporadic …
neurodegenerative diseases, with the most common phenotype in humans being sporadic …
Evidence for trans-synaptic propagation of oligomeric tau in Progressive Supranuclear Palsy
RI McGeachan, L Keavey, JL Rose, EM Simzer… - medRxiv, 2022 - medrxiv.org
Synaptic function is essential for cognition and loss of synapses is observed in
neurodegenerative tauopathies including Progressive Supranuclear Palsy (PSP) …
neurodegenerative tauopathies including Progressive Supranuclear Palsy (PSP) …
A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology
We conducted the largest PSP GWAS of the Iberian population to date (522 cases from 22
Spanish and Portuguese institutions). We independently replicated seven known PSP risk …
Spanish and Portuguese institutions). We independently replicated seven known PSP risk …
Characterization of isolated human astrocytes from aging brain
Astrocytes have multiple crucial roles, including maintaining brain homeostasis and synaptic
function, performing phagocytic clearance and responding to injury and repair. It has been …
function, performing phagocytic clearance and responding to injury and repair. It has been …
Tau accumulation patterns in PSP constrain mechanisms and quantify cell-to-cell and cell-autonomous aggregation rates
Protein aggregates are a hallmark of neurodegenerative disease, yet the molecular
processes that control their appearance are still poorly understood. In particular, it is …
processes that control their appearance are still poorly understood. In particular, it is …
DNA methylation as a contributor to dysregulation of STX6 and other frontotemporal lobar degeneration genetic risk-associated loci
N Rambarack, K Fodder, M Murthy, C Toomey… - bioRxiv, 2025 - biorxiv.org
Abstract Frontotemporal Lobar Degeneration (FTLD) represents a spectrum of clinically,
genetically, and pathologically heterogeneous neurodegenerative disorders characterised …
genetically, and pathologically heterogeneous neurodegenerative disorders characterised …
Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis in vivo and in Cellular Models
E Hill, M Patel, JM Ribes, J Linehan, F Zhang… - bioRxiv, 2025 - biorxiv.org
Syntaxin-6, a SNARE protein involved in intracellular protein trafficking, is a proposed risk
factor for sporadic prion disease, progressive supranuclear palsy and Alzheimer's disease …
factor for sporadic prion disease, progressive supranuclear palsy and Alzheimer's disease …