Lista de obras -

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

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

artículo científico

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

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

artículo científico publicado en 2015

Cerebrospinal fluid biomarkers and memory present distinct associations along the continuum from healthy subjects to AD patients

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Cerebrospinal fluid sTREM2 levels are associated with gray matter volume increases and reduced diffusivity in early Alzheimer's disease

artículo científico publicado en 2016

Chemical Stimulation of Rodent and Human Cortical Synaptosomes: Implications in Neurodegeneration ⬇️

artículo científico publicado en 2021

Clinical applicability of diagnostic biomarkers in early-onset cognitive impairment

scientific article published on 28 March 2019

Clinicopathological Correlations and Concomitant Pathologies in Rapidly Progressive Dementia: A Brain Bank Series

artículo científico publicado en 2015

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

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

artículo científico publicado en 2017

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

artículo científico publicado en 2017

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

Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease

artículo científico publicado en 2012

Donepezil treatment stabilizes functional connectivity during resting state and brain activity during memory encoding in Alzheimer's disease.

artículo científico publicado en 2013

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

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2011

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

artículo científico publicado en 2015

Increased cortical thickness and caudate volume precede atrophy in PSEN1 mutation carriers.

artículo científico publicado en 2010

Large APP locus duplication in a sporadic case of cerebral haemorrhage

artículo científico publicado en 2014

Longitudinal study of amnesic patients at high risk for Alzheimer's disease: clinical, neuropsychological and magnetic resonance spectroscopy features

artículo científico publicado en 2007

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

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

artículo científico publicado en 2013

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

Quantitative Magnetic Resonance Abnormalities in Creutzfeldt-Jakob Disease and Fatal Insomnia.

artículo científico publicado en 2016

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

artículo científico publicado en 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

artículo científico publicado en 2018

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

artículo científico

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

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

artículo científico publicado en 2014

The APOE ε4 genotype modulates CSF YKL-40 levels and their structural brain correlates in the continuum of Alzheimer's disease but not those of sTREM2.

artículo científico publicado en 2016

The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers

artículo científico publicado en 2011

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

Lista de obras de

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

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

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

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

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

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

Cerebrospinal fluid biomarkers and memory present distinct associations along the continuum from healthy subjects to AD patients

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

Cerebrospinal fluid sTREM2 levels are associated with gray matter volume increases and reduced diffusivity in early Alzheimer's disease

Chemical Stimulation of Rodent and Human Cortical Synaptosomes: Implications in Neurodegeneration ⬇️

Clinical applicability of diagnostic biomarkers in early-onset cognitive impairment

Clinicopathological Correlations and Concomitant Pathologies in Rapidly Progressive Dementia: A Brain Bank Series

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.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

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

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

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.

Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease

Donepezil treatment stabilizes functional connectivity during resting state and brain activity during memory encoding in Alzheimer's disease.

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

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Increased cortical thickness and caudate volume precede atrophy in PSEN1 mutation carriers.

Large APP locus duplication in a sporadic case of cerebral haemorrhage

Longitudinal study of amnesic patients at high risk for Alzheimer's disease: clinical, neuropsychological and magnetic resonance spectroscopy features

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.

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

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

Quantitative Magnetic Resonance Abnormalities in Creutzfeldt-Jakob Disease and Fatal Insomnia.

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

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

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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

The APOE ε4 genotype modulates CSF YKL-40 levels and their structural brain correlates in the continuum of Alzheimer's disease but not those of sTREM2.

The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers

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