Associated Papers
Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.
Ramakrishnan S et al.
Bmc Neurology, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.
Shen T et al.
Molecular Neurodegeneration, 2025
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Retinal photoreceptor layer thickness has disease specificity and distinguishes predicted FTLD-Tau from biomarker-determined Alzheimer's disease.
Kim BJ et al.
Neurobiology of Aging, 2023
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
Gossye H et al.
Brain : a Journal of Neurology, 2023
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes.
Santillo AF et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor.
Bhattacharjee S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.
Ulugut Erkoyun H et al.
Journal of Alzheimer's Disease : Jad, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons.
Alquezar C et al.
Scientific Reports, 2020
Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Han LH et al.
Clinical Interventions in Aging, 2020
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN et al.
Cold Spring Harbor Molecular Case Studies, 2019
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Perrone F et al.
Neurobiology of Aging, 2018
Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.
Ygland E et al.
Alzheimer's Research & Therapy, 2018
18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers.
Smith R et al.
Brain : a Journal of Neurology, 2016
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT).
Rasmussen MA et al.
Stem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.
Rasmussen MA et al.
Stem Cell Research, 2016
Classic PD-like rest tremor associated with the tau p.R406W mutation.
Hirschbichler ST et al.
Parkinsonism & Related Disorders, 2015
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.
Ishida C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2015
Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion.
Downey LE et al.
Alzheimer's Research & Therapy, 2012
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
Wojtas A et al.
American Journal of Neurodegenerative Disease, 2012
Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.
Lindquist SG et al.
Clinical Genetics, 2009
Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.
Lindquist SG et al.
European Journal of Neurology, 2008
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
Rademakers R et al.
Human Mutation, 2003