Lista de obras -

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

artículo científico publicado en 2017

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer's Disease.

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2013

Association between cerebrospinal fluid tau and brain atrophy is not related to clinical severity in the Alzheimer's disease continuum.

artículo científico publicado en 2011

CSF YKL-40 and pTau181 are related to different cerebral morphometric patterns in early AD.

artículo científico publicado en 2015

CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study

artículo científico publicado en 2016

Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes.

artículo científico publicado en 2011

Cerebrospinal Fluid Biomarkers Predict Clinical Evolution in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

artículo científico publicado en 2015

Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations

artículo científico publicado en 2011

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2013

Clinical applicability of diagnostic biomarkers in early-onset cognitive impairment

scientific article published on 28 March 2019

Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Contribution of CSF biomarkers to early-onset Alzheimer's disease and frontotemporal dementia neuroimaging signatures

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort

artículo científico publicado en 2014

Different profiles of Alzheimer's disease cerebrospinal fluid biomarkers in controls and subjects with subjective memory complaints

artículo científico publicado en 2010

Distinct functional activity of the precuneus and posterior cingulate cortex during encoding in the preclinical stage of Alzheimer's disease.

artículo científico publicado en 2012

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Evolving brain structural changes in PSEN1 mutation carriers.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

artículo científico publicado en 2006

Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease

artículo científico publicado en 2014

Large APP locus duplication in a sporadic case of cerebral haemorrhage

artículo científico publicado en 2014

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

artículo científico publicado en 2007

Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.

artículo científico

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.

artículo científico publicado en 2012

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations

artículo científico publicado en 2016

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype

artículo científico publicado en 2016

Reply: To PMID 23794434.

artículo científico publicado en 2014

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

artículo científico

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

artículo científico publicado en 2018

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

artículo científico publicado en 2014

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

artículo científico publicado en 2014

The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology

artículo científico publicado en 2018

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

artículo científico publicado en 2010

Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment.

artículo científico publicado en 2014

White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Williams syndrome: its clinical aspects and molecular bases

artículo científico publicado en 2006

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers

artículo científico publicado en 2016

Lista de obras de

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

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

Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer's Disease.

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

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.

CSF YKL-40 and pTau181 are related to different cerebral morphometric patterns in early AD.

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.

Cerebrospinal Fluid Biomarkers Predict Clinical Evolution in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

Clinical applicability of diagnostic biomarkers in early-onset cognitive impairment

Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease.

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

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

Contribution of CSF biomarkers to early-onset Alzheimer's disease and frontotemporal dementia neuroimaging signatures

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

Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort

Different profiles of Alzheimer's disease cerebrospinal fluid biomarkers in controls and subjects with subjective memory complaints

Distinct functional activity of the precuneus and posterior cingulate cortex during encoding in the preclinical stage of Alzheimer's disease.

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

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

Evolving brain structural changes in PSEN1 mutation carriers.

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

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease

Large APP locus duplication in a sporadic case of cerebral haemorrhage

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

Neuroimaging and biochemical markers in the three variants of primary progressive aphasia.

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.

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

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

Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype

Reply: To PMID 23794434.

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

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

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

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment.

White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant 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

Williams syndrome: its clinical aspects and molecular bases

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers