Associated Papers
Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.
Lv G et al.
Nature Communications, 2025
Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.
He D et al.
Genes & Diseases, 2025
Cellular and pathological functions of tau.
Parra Bravo C et al.
Nature Reviews. Molecular Cell Biology, 2024
Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.
Xu T et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
FTLD-MAPT mutations and short 5'UTR Tau mRNAs increase Tau translation.
da Costa PJ et al.
Nar Molecular Medicine, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.
He D et al.
Journal of Neurology, 2024
Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.
Villa C et al.
Frontiers in Bioscience (landmark Edition), 2024
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.
Debnath M et al.
Annals of Neurosciences, 2022
The pathogenic R5L mutation disrupts formation of Tau complexes on the microtubule by altering local N-terminal structure.
Cario A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.
da Costa PJ et al.
Biomedicines, 2022
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.
Hsu JL et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Tau Protein and Frontotemporal Dementias.
Goedert M et al.
Advances in Experimental Medicine and Biology, 2021
The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.
Liu L et al.
Frontiers in Aging Neuroscience, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
Are mutations in MAPT associated with GGT type III?
Forrest SL et al.
Neuropathology and Applied Neurobiology, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy.
Ferrer I et al.
Acta Neuropathologica, 2020
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM et al.
The Lancet. Neurology, 2020
Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.
Zhou X et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2020
Much More Than a Cytoskeletal Protein: Physiological and Pathological Functions of the Non-microtubule Binding Region of Tau.
Brandt R et al.
Frontiers in Neurology, 2020
Heritability in frontotemporal tauopathies.
Forrest SL et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Impaired tau-microtubule interactions are prevalent among pathogenic tau variants arising from missense mutations.
Xia Y et al.
The Journal of Biological Chemistry, 2019
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.
Karch CM et al.
Stem Cell Reports, 2019
Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings.
Erro ME et al.
Journal of Neurology, 2019
MAPT mutations, tauopathy, and mechanisms of neurodegeneration.
Strang KH et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2019
Distinct differences in prion-like seeding and aggregation between Tau protein variants provide mechanistic insights into tauopathies.
Strang KH et al.
The Journal of Biological Chemistry, 2018
Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.
Forrest SL et al.
Brain : a Journal of Neurology, 2018
Therapeutic Strategies for Restoring Tau Homeostasis.
Young ZT et al.
Cold Spring Harbor Perspectives in Medicine, 2018
Tau Filaments and the Development of Positron Emission Tomography Tracers.
Goedert M et al.
Frontiers in Neurology, 2018
The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review.
He S et al.
Neuropsychiatric Disease and Treatment, 2018
Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.
Lin HC et al.
Bmc Neurology, 2017
Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?
De Vos KJ et al.
Neurobiology of Disease, 2017
Cryo-EM structures of tau filaments from Alzheimer's disease.
Fitzpatrick AWP et al.
Nature, 2017
Genetics of Frontotemporal Dementia.
Olszewska DA et al.
Current Neurology and Neuroscience Reports, 2016
Quantitative and combinatory determination of in situ phosphorylation of tau and its FTDP-17 mutants.
Kimura T et al.
Scientific Reports, 2016
Tau mis-splicing in the pathogenesis of neurodegenerative disorders.
Park SA et al.
Bmb Reports, 2016
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.
Kim HJ et al.
Neurobiology of Aging, 2016
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Guven G et al.
Plos One, 2016
[A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the MAPT-Gene].
Henz S et al.
Fortschritte Der Neurologie-psychiatrie, 2015