about
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease.Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort.Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.Applying the new research diagnostic criteria: MRI findings and neuropsychological correlations of prodromal AD.Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease.CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes.Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype.Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.Distinct functional activity of the precuneus and posterior cingulate cortex during encoding in the preclinical stage of Alzheimer's disease.Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment.PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.Cognitive reserve proxies relate to gray matter loss in cognitively healthy elderly with abnormal cerebrospinal fluid amyloid-β levels.Evolving brain structural changes in PSEN1 mutation carriers.Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations.Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer's Disease.White matter changes in preclinical Alzheimer's disease: a magnetic resonance imaging-diffusion tensor imaging study on cognitively normal older people with positive amyloid β protein 42 levels.CSF YKL-40 and pTau181 are related to different cerebral morphometric patterns in early AD.Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain.Reply: To PMID 23794434.Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.Association between cerebrospinal fluid tau and brain atrophy is not related to clinical severity in the Alzheimer's disease continuum.Cognitively preserved subjects with transitional cerebrospinal fluid ß-amyloid 1-42 values have thicker cortex in Alzheimer's disease vulnerable areas.A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.MAPT gene duplications are not a cause of frontotemporal lobar degeneration.[Williams syndrome: its clinical aspects and molecular bases].Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusionsCerebrospinal Fluid Biomarkers Predict Clinical Evolution in Patients with Subjective Cognitive Decline and Mild Cognitive ImpairmentLarge APP locus duplication in a sporadic case of cerebral haemorrhageSystematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion MutationThe hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Anna Antonell
@en
Anna Antonell
@nl
type
label
Anna Antonell
@en
Anna Antonell
@nl
altLabel
Antonell A
@en
prefLabel
Anna Antonell
@en
Anna Antonell
@nl
P31
P496
0000-0002-3286-8459