Search Results - "BLESA, Rafael"
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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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Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors
Published in Nature communications (18-10-2019)“…Trisomy 21 (T21) causes Down syndrome (DS), affecting immune and neurological function by ill-defined mechanisms. Here we report a large metabolomics study of…”
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3
Agreement of amyloid PET and CSF biomarkers for Alzheimer's disease on Lumipulse
Published in Annals of clinical and translational neurology (01-09-2019)“…Objective To determine the cutoffs that optimized the agreement between 18F‐Florbetapir positron emission tomography (PET) and Aβ1‐42, Aβ1‐40, tTau, pTau and…”
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Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia
Published in Translational neurodegeneration (10-12-2021)“…Astrocytes play an essential role in neuroinflammation and are involved in the pathogenesis of neurodenegerative diseases. Studies of glial fibrillary acidic…”
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Different pattern of CSF glial markers between dementia with Lewy bodies and Alzheimer’s disease
Published in Scientific reports (24-05-2019)“…The role of innate immunity in dementia with Lewy bodies (DLB) has been little studied. We investigated the levels in cerebrospinal fluid (CSF) of glial…”
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Cortical microstructure in the amyotrophic lateral sclerosis–frontotemporal dementia continuum
Published in Neurology (03-11-2020)“…OBJECTIVETo characterize the cortical macrostructure and microstructure of behavioral and cognitive changes along the amyotrophic lateral sclerosis…”
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The Aβ1-42/Aβ1-40 ratio in CSF is more strongly associated to tau markers and clinical progression than Aβ1-42 alone
Published in Alzheimer's research & therapy (01-02-2022)“…Cerebrospinal fluid (CSF) Aβ1-42 levels and the Aβ1-42/Aβ1-40 ratio are markers of amyloid pathology, but previous studies suggest that their levels might be…”
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Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease
Published in Acta neuropathologica (01-02-2013)“…Autosomal-dominant Alzheimer disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein ( APP ) or Presenilin ( PSEN ) genes…”
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9
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
Published in Movement disorders (01-03-2012)“…Mutations in the glucocerebrosidase gene are associated with Parkinson's disease and Lewy body dementia. However, whether these alterations have any effect on…”
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10
MOTS-c promotes muscle differentiation in vitro
Published in Peptides (New York, N.Y. : 1980) (01-09-2022)“…MOTS-c (mitochondrial open reading frame of the 12 S rRNA-c) is a newly discovered peptide that has been shown to have a protective role in whole-body…”
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Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome
Published in Molecular neurodegeneration (17-08-2020)“…Abstract Background Alzheimer’s disease (AD) is the major cause of death in adults with Down syndrome (DS). There is an urgent need for objective markers of AD…”
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Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies
Published in Frontiers in neurology (18-01-2022)“…Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) lie at opposing ends of a clinical, genetic, and neuropathological continuum…”
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Progranulin Protein Levels in Cerebrospinal Fluid in Primary Neurodegenerative Dementias
Published in Journal of Alzheimer's disease (22-01-2016)“…Progranulin is implicated in frontotemporal dementia (FTD), but its role in other neurodegenerative disorders is unknown. To investigate the levels of…”
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Cerebral Amyloid Angiopathy-Related Atraumatic Convexal Subarachnoid Hemorrhage: An ARIA before the Tsunami
Published in Journal of cerebral blood flow and metabolism (01-05-2015)“…Atraumatic convexal subarachnoid hemorrhage (cSAH) in elderly patients is a rare entity that has been associated with cerebral amyloid angiopathy (CAA) and…”
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Diagnosis of prodromal and Alzheimer's disease dementia in adults with Down syndrome using neuropsychological tests
Published in Alzheimer's & dementia : diagnosis, assessment & disease monitoring (2020)“…Introduction We aimed to define prodromal Alzheimer's disease (AD) and AD dementia using normative neuropsychological data in a large population‐based cohort…”
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16
Evaluation of biochemical and hematological parameters in adults with Down syndrome
Published in Scientific reports (13-08-2020)“…Down syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born…”
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Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients
Published in Journal of neuroimmunology (15-09-2008)“…Abstract We report the results of treatment with Rituximab in six severe, non-responder MG patients. We treated three AChR + MG and three MuSK + MG patients,…”
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Neural correlates of episodic memory in adults with Down syndrome and Alzheimer's disease
Published in Alzheimer's research & therapy (03-09-2022)“…Adults with Down syndrome are at an ultra-high risk of developing early-onset Alzheimer's disease. Episodic memory deficits are one of the earliest signs of…”
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Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome
Published in JAMA network open (05-08-2022)“…Importance Alzheimer disease (AD) is the main medical problem in adults with Down syndrome (DS). However, the associations of age, intellectual disability…”
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Reelin Expression and Glycosylation Patterns Are Altered in Alzheimer's Disease
Published in Proceedings of the National Academy of Sciences - PNAS (04-04-2006)“…Reelin is a glycoprotein that is essential for the correct cytoarchitectonic organization of the developing CNS. Its function in the adult brain is less…”
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