Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype

S Koga, N Kouri, RL Walton, MTW Ebbert… - Acta …, 2018 - Springer
Corticobasal degeneration (CBD) is a clinically heterogeneous tauopathy, which has
overlapping clinicopathologic and genetic characteristics with progressive supranuclear …

The tau H2 haplotype is almost exclusively Caucasian in origin

W Evans, HC Fung, J Steele, J Eerola, P Tienari… - Neuroscience …, 2004 - Elsevier
We have assessed the distribution of the tau H1/H2 haplotype in the publicly available
reference series of samples with representatives of most racial groups. This analysis shows …

[HTML][HTML] Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue

CV Tauber, SC Schwarz, TW Rösler… - Acta Neuropathologica …, 2023 - Springer
The MAPT gene, encoding the microtubule-associated protein tau on chromosome 17q21.
31, is result of an inversion polymorphism, leading to two allelic variants (H1 and H2) …

[HTML][HTML] Decoding neurodegeneration: a comprehensive review of molecular mechanisms, genetic influences, and therapeutic innovations

V Voicu, CP Tataru, C Toader… - International Journal of …, 2023 - mdpi.com
Neurodegenerative disorders often acquire due to genetic predispositions and genomic
alterations after exposure to multiple risk factors. The most commonly found pathologies are …

Knock-out and transgenic mouse models of tauopathies

F Denk, R Wade-Martins - Neurobiology of aging, 2009 - Elsevier
Tauopathies, characterized by the dysfunction and aggregation of the microtubule-
associated protein tau (MAPT), represent some of the most devastating neurodegenerative …

Corticobasal degeneration

AM Grijalvo-Perez, I Litvan - Seminars in Neurology, 2014 - thieme-connect.com
Among the atypical parkinsonian syndromes, corticobasal degeneration (CBD) is probably
the most challenging disorder to diagnose antemortem. It can present with multiple …

Corticobasal degeneration

GM Saranza, JL Whitwell, GG Kovacs… - International review of …, 2019 - Elsevier
Corticobasal degeneration (CBD) is a rare neurodegenerative disease characterized by the
predominance of pathological 4 repeat tau deposition in various cell types and anatomical …

Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus

TM Caffrey, C Joachim, R Wade-Martins - Neurobiology of aging, 2008 - Elsevier
The microtubule-associated protein tau (MAPT) H1 haplotype shows a strong association to
the sporadic neurodegenerative diseases, progressive supranuclear palsy and corticobasal …

Distinct conformers of assembled tau in Alzheimer's and Pick's diseases

M Goedert, B Falcon, W Zhang, B Ghetti… - Cold Spring Harbor …, 2018 - symposium.cshlp.org
Tau filaments with distinct morphologies and/or isoform compositions underlie a large
number of human neurodegenerative diseases. In conjunction with experimental studies …

[HTML][HTML] The MAPT H1 Haplotype Is a Risk Factor for Alzheimer's Disease in APOE ε4 Non-carriers

P Sánchez-Juan, S Moreno, I de Rojas… - Frontiers in Aging …, 2019 - frontiersin.org
An ancestral inversion of 900 kb on chromosome 17q21, which includes the microtubule-
associated protein tau (MAPT) gene, defines two haplotype clades in Caucasians (H1 and …