Associated Papers
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.
Bouzigues A et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Cellular and pathological functions of tau.
Parra Bravo C et al.
Nature Reviews. Molecular Cell Biology, 2024
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
Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.
Bougea A
International Journal of Molecular Sciences, 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
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Genetics of Progressive Supranuclear Palsy: A Review.
Wen Y et al.
Journal of Parkinson's Disease, 2021
Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.
Boeve BF et al.
Advances in Experimental Medicine and Biology, 2021
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Mega A et al.
Alzheimer's Research & Therapy, 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
Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene.
Nan H et al.
Internal Medicine (tokyo, Japan), 2019
Amyloid and intracellular accumulation of BRI2.
Garringer HJ et al.
Neurobiology of Aging, 2017
Tau mis-splicing in the pathogenesis of neurodegenerative disorders.
Park SA et al.
Bmb Reports, 2016
Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.
Wierzba-Bobrowicz T et al.
Folia Neuropathologica, 2014
[Models for frontotemporal lobar degeneration caused by R406W MAPT mutation].
Tatebayashi Y et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2011
Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN.
Whitwell JL et al.
Neurology, 2011
Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia: a cluster analysis study.
Whitwell JL et al.
Brain : a Journal of Neurology, 2009
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.
Whitwell JL et al.
Neurology, 2009
Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN.
Whitwell JL et al.
Neurology, 2009