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Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome
(Wiley Open Access, 2020-11-23)
INTRODUCTION: People with Down syndrome (DS) typically develop Alzheimer's disease (AD) neuropathology before age 40, but a lack of outcome measures and longitudinal data have impeded their inclusion in randomized controlled ...
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy
(National Academy of Sciences, 2013-02-11)
Glial proliferation and activation are associated with disease progression in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia. In this study, we describe a unique platform to address the question of ...
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
(Elsevier, 2021-06-04)
Loss of function (LoF) mutations in Optineurin can cause recessive amyotrophic lateral sclerosis (ALS) with some heterozygous LoF mutations associated with dominant ALS. The molecular mechanisms underlying the variable ...
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
(National Academy of Sciences, 2012-03-26)
Transactive response DNA-binding (TDP-43) protein is the dominant disease protein in amyotrophic lateral sclerosis (ALS) and a subgroup of frontotemporal lobar degeneration (FTLD-TDP). Identification of mutations in the ...
Socioeconomic Gradients in Different Types of Tobacco Use in India: Evidence from Global Adult Tobacco Survey 2009-10
(Hindawi, 2015-07-26)
Socioeconomic differences in tobacco use have been reported, but there is a lack of evidence on how they vary according to types of tobacco use. This study explored socioeconomic differences associated with cigarette, bidi, ...
Health and health behaviours before and during the Great Recession, overall and by socioeconomic status, using data from four repeated cross-sectional health surveys in Spain (2001-2012).
(2015-09-07)
BACKGROUND: The objective of this study was to estimate changes over time in health status and selected health behaviours during the Great Recession, in the period 2011/12, in Spain, both overall, and according to socioeconomic ...
Association between tooth loss and hypertension among a primarily rural middle aged and older Indian adult population.
(2016-06)
BACKGROUND: Studies in high-income countries have reported associations between tooth loss and hypertension. There is however a lack of evidence on this association from South Asian countries especially India. The current ...
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.
(2011-04)
Optineurin (OPTN) is a multifunctional protein involved in vesicular trafficking, signal transduction and gene expression. OPTN mutations were described in eight Japanese patients with familial and sporadic amyotrophic ...
A cohort study of 30 day mortality after NON-EMERGENCY surgery in a COVID-19 cold site.
(2020-12)
BACKGROUND: Two million non-emergency surgeries are being cancelled globally every week due to the COVID-19 pandemic, which will have a major impact on patients and healthcare systems. METHODS: During the peak of the ...
CSF neurofilament light chain testing as an aid to determine treatment strategies in MS.
(2020-11)
OBJECTIVE: To evaluate the use of CSF neurofilament light chain (NfL) measurements in clinical practice as well as their effect on treatment strategies and outcomes in patients with MS. METHODS: This was an observational ...