Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
Cellular and pathological functions of tau.
Parra Bravo C et al.
Nature Reviews. Molecular Cell Biology, 2024
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy.
Mori K et al.
Acta Neuropathologica Communications, 2023
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska DA et al.
Neurobiology of Aging, 2021
Brain volumetric deficits in MAPT mutation carriers: a multisite study.
Chu SA et al.
Annals of Clinical and Translational Neurology, 2021
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM et al.
Jama Network Open, 2020
33112398 (PubMed )
Supplement: jamanetwopen-e2022847-s001.pdf
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
31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers.
Chen Q et al.
Neurology, 2019
Tau mis-splicing in the pathogenesis of neurodegenerative disorders.
Park SA et al.
Bmb Reports, 2016
MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology.
Kantarci K et al.
Neurology, 2010
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.
Whitwell JL et al.
Neurology, 2009
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