Search Results - "Alcolea, D."
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Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders
Published in Scientific reports (08-06-2020)“…Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF…”
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Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer’s disease
Published in Journal of Neural Transmission (01-05-2013)“…Aside from APOE , the genetic factors that influence the progression from mild cognitive impairment (MCI) to Alzheimer’s disease (AD) remain largely unknown…”
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The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk
Published in Science translational medicine (14-08-2019)“…Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid (CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a…”
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TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis
Published in Science translational medicine (02-07-2014)“…Genetic variants in the triggering receptor expressed on myeloid cells 2 (TREM2) have been linked to Nasu-Hakola disease, Alzheimer's disease (AD), Parkinson's…”
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Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias
Published in Journal of neurology, neurosurgery and psychiatry (01-11-2021)“…ObjectivesAll categories included in the AT(N) classification can now be measured in plasma. However, their agreement with cerebrospinal fluid (CSF) markers is…”
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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
Published in Acta neuropathologica (01-08-2019)“…The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer’s disease risk (AD). The role of PLCG2 in…”
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Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome
Published in Nature communications (14-07-2021)“…Plasma tau phosphorylated at threonine 181 (p-tau181) predicts Alzheimer’s disease (AD) pathology with high accuracy in the general population. In this study,…”
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Longitudinal cerebrospinal fluid biomarker trajectories along the Alzheimer's disease continuum in the BIOMARKAPD study
Published in Alzheimer's & dementia (01-06-2019)“…Within-person trajectories of cerebrospinal fluid (CSF) biomarkers in Alzheimer's disease (AD) are not well defined. We included 467 subjects from the…”
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Blood amyloid and tau biomarkers as predictors of cerebrospinal fluid profiles
Published in Journal of Neural Transmission (01-02-2022)“…Introduction Blood biomarkers represent a major advance for improving the management, diagnosis, and monitoring of Alzheimer's disease (AD). However, their…”
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Characteristics of subjective cognitive decline associated with amyloid positivity
Published in Alzheimer's & dementia (01-10-2022)“…Introduction The evidence for characteristics of persons with subjective cognitive decline (SCD) associated with amyloid positivity is limited. Methods In 1640…”
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SMA - TREATMENT
Published in Neuromuscular disorders : NMD (01-10-2021)Get full text
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Published in Human molecular genetics (01-02-2014)“…Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal…”
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TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels
Published in Alzheimer's & dementia (01-10-2021)“…Introduction Neurofilament light (NfL), chitinase‐3‐like protein 1 (YKL‐40), and neurogranin (Ng) are biomarkers for Alzheimer's disease (AD) to monitor axonal…”
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Basal forebrain atrophy along the Alzheimer's disease continuum in adults with Down syndrome
Published in Alzheimer's & dementia (01-11-2023)“…Basal forebrain (BF) degeneration occurs in Down syndrome (DS)-associated Alzheimer's disease (AD). However, the dynamics of BF atrophy with age and disease…”
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A metabolite-based machine learning approach to diagnose Alzheimer-type dementia in blood: Results from the European Medical Information Framework for Alzheimer disease biomarker discovery cohort
Published in Alzheimer's & dementia : translational research & clinical interventions (2019)“…Machine learning (ML) may harbor the potential to capture the metabolic complexity in Alzheimer Disease (AD). Here we set out to test the performance of…”
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Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset
Published in Frontiers in aging neuroscience (21-03-2022)“…Alzheimer's disease (AD) is the most frequent neurodegenerative disease with an increasing prevalence in industrialized, aging populations. AD susceptibility…”
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Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation
Published in Journal of neurology, neurosurgery and psychiatry (01-06-2014)“…Objectives About a half of patients with frontotemporal dementia (FTD) has deposition of phosphorylated TDP-43 protein (pTDP-43) in the brain. We studied…”
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Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning
Published in Genome medicine (04-10-2023)“…Genome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF)…”
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