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
Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.
Villa C et al.
Frontiers in Bioscience (landmark Edition), 2024
Mutation ∆K281 in MAPT causes Pick's disease.
Schweighauser M et al.
Acta Neuropathologica, 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
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
FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.
Tacik P et al.
Brain Pathology (zurich, Switzerland), 2017
Closing the tau loop: the missing tau mutation.
McCarthy A et al.
Brain : a Journal of Neurology, 2015
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A et al.
Neurology, 2014
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
Rossi G et al.
Neurobiology of Aging, 2014
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