School of Medical Sciences: Recent submissions
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Molecular investigation of TBP allele length: a SCA17 cellular model and population study
Published 2003-01-01Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP). The normal repeat range is 25-42 units with ...Open AccessArticle -
Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies
Published 2017-01-01See Josephs (doi:10.1093/brain/awx367) for a scientific commentary on this article.In many neurodegenerative disorders, familial forms have provided important insights into the pathogenesis of their corresponding sporadic ...Open AccessArticle -
Assessment of amyloid β in pathologically confirmed frontotemporal dementia syndromes
Published 2017-05-29The diagnostic utility of in vivo amyloid β (Aβ) imaging to aid in the clinical distinction between frontotemporal dementia (FTD) and Alzheimer's disease remains unclear without data on the prevalence and severity of Aβ ...Open AccessArticle -
Expanding the phenotypic associations of globular glial tau subtypes
Published 2016-04-08Clinicopathologic correlation in non-Alzheimer's tauopathies is variable, despite refinement of pathologic diagnostic criteria. In the present study, the clinical and neuroimaging characteristics of globular glial tauopathy ...Open AccessArticle -
[18F]AV-1451 PET in behavioural variant frontotemporal dementia due to MAPT mutation
Published 2016-10-18The validation of tau radioligands could improve the diagnosis of frontotemporal lobar degeneration and the assessment of disease-modifying therapies. Here, we demonstrate that binding of the tau radioligand [18F]AV-1451 ...Open AccessArticle