Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome
Author:
Publisher
S. Karger AG
Subject
Neurology (clinical),Neurology
Reference20 articles.
1. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
2. Tau is a candidate gene for chromosome 17 frontotemporal dementia
3. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
4. Hereditary Frontotemporal Dementia Caused by Tau Gene Mutations
5. Progressive Supranuclear Palsy: Pathology and Genetics
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1. A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy;Frontiers in Neurology;2024-04-19
2. Systematic characterization of protein structural features of alternative splicing isoforms using AlphaFold 2;2024-02-01
3. Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review;Frontiers in Bioscience-Landmark;2024-01-16
4. MAPT‐Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report;Movement Disorders Clinical Practice;2023-03-11
5. Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature;International Journal of Molecular Sciences;2023-03-09
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