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List of works by Anna Antonell

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TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013
sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers

scientific article
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

scientific article published on 19 January 2014
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

scientific article
Cognitively preserved subjects with transitional cerebrospinal fluid ß-amyloid 1-42 values have thicker cortex in Alzheimer's disease vulnerable areas.

scientific article published on 23 April 2011
Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease

scientific article published on 20 March 2014
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 20 September 2013
Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease.

scientific article published on May 2011
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

scientific article published on 6 June 2014
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

scientific article
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

scientific article published on 13 September 2013
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

scientific article (publication date: September 2005)
Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations

scientific article published on 8 September 2016
CSF YKL-40 and pTau181 are related to different cerebral morphometric patterns in early AD.

scientific article published on 2 November 2015
Different profiles of Alzheimer's disease cerebrospinal fluid biomarkers in controls and subjects with subjective memory complaints

scientific article published on 16 December 2010
Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.

scientific article published on 06 February 2013
Cerebrospinal Fluid Biomarkers Predict Clinical Evolution in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

scientific article published on 12 November 2015
Distinct functional activity of the precuneus and posterior cingulate cortex during encoding in the preclinical stage of Alzheimer's disease.

scientific article published in January 2012
Cognitive reserve proxies relate to gray matter loss in cognitively healthy elderly with abnormal cerebrospinal fluid amyloid-β levels.

scientific article
Applying the new research diagnostic criteria: MRI findings and neuropsychological correlations of prodromal AD.

scientific article published on 07 March 2011
Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations

scientific article published on 5 January 2011
Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment.

scientific article published in January 2014
Evolving brain structural changes in PSEN1 mutation carriers.

scientific article published on 24 December 2014
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.

scientific article published on January 2012
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 inclusions

scientific article published on 01 September 2012
CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study

scientific article published on 13 October 2016
Association between cerebrospinal fluid tau and brain atrophy is not related to clinical severity in the Alzheimer's disease continuum.

scientific article published on 4 May 2011
Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

scientific article published on 17 April 2010
Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort

scientific article
Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.

scientific article
Large APP locus duplication in a sporadic case of cerebral haemorrhage

scientific article published on 02 April 2014
MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

scientific article published in August 2007
Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes.

scientific article
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.

scientific article published in January 2012
Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain

scientific article published on 22 September 2017
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

scientific article published on 9 April 2011
White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease

scientific article
Decreased striatal dopamine transporter uptake in the non-fluent/agrammatic variant of primary progressive aphasia

scientific article published on 17 May 2013
The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology

scientific article published on 01 June 2018
Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer's Disease.

scientific article published on 28 October 2015
Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype

scientific article
Williams syndrome: its clinical aspects and molecular bases

scientific article published in January 2006
Clinical applicability of diagnostic biomarkers in early-onset cognitive impairment

scientific article published on 28 March 2019
Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

scientific article published on 01 August 2018
A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

scientific article published on 3 December 2017
Reply: To PMID 23794434.

scientific article published on 7 March 2014
Contribution of CSF biomarkers to early-onset Alzheimer's disease and frontotemporal dementia neuroimaging signatures

scientific article published on 16 January 2020

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