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List of works by Raquel Sanchez-Valle

"Preclinical" MSA in definite Creutzfeldt-Jakob disease.

scientific article published on 21 June 2011

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

scientific article published on 3 December 2017

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

scientific article published on 30 March 2016

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

scientific article published on 08 March 2022

A novel MAPT mutation (P301T) associated with familial frontotemporal dementia.

scientific article published in August 2007

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

scientific article published on 9 April 2011

A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.

scientific article

A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.

scientific article published in December 2007

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

Active Aβ immunotherapy CAD106 in Alzheimer's disease: A phase 2b study

scientific article published on 23 December 2016

Adaptation and validation of a Spanish-language version of the Frontotemporal Dementia Rating Scale (FTD-FRS).

scientific article published on 11 February 2016

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

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

scientific article published on 28 October 2015

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

scientific article published on 7 July 2015

Analysis of the exon 1 polymorphism in the Tau gene in transmissible spongiform encephalopathies

article

Anti-Tr antibodies as markers of paraneoplastic cerebellar degeneration and Hodgkin's disease.

scientific article published in January 2003

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

scientific article published on 07 March 2011

Assessing the role of TUBA4A gene in frontotemporal degeneration.

scientific article published on 5 November 2015

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

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

Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex

scientific article published on 6 August 2012

Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer's disease

scientific article published on 16 November 2020

Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients.

scientific article published on 30 July 2007

C-terminal fragments of the amyloid precursor protein in cerebrospinal fluid as potential biomarkers for Alzheimer disease

scientific article

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

CSF 14-3-3 protein assay and MRI as prognostic markers in patients with a clinically isolated syndrome suggestive of MS

scientific article published on 01 October 2004

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

scientific article published on 2 November 2015

CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies.

scientific article published in February 2007

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

scientific article published on 13 October 2016

CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration.

scientific article published on 07 June 2017

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

scientific article published on 29 April 2017

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

scientific article published on 12 November 2015

Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

scientific article published on 29 September 2016

Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years

scientific article

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

scientific article published in January 2011

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

scientific article published on 5 January 2011

Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies

scientific article

Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases

scientific article

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

scientific article

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

scientific article published on 20 September 2013

Clinical Neuropathology image 4-2017: High-resolution 7 Tesla MRI of postmortem brain specimens: improving neuroimaging-neuropathology correlations

scientific article published on 28 June 2017

Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

scientific article published in October 2004

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.

scientific article published on May 2011

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

scientific article

Cognitive impairment induced by benzodiazepine use disorder and its reversibility: a case report.

scientific article

Cognitive reserve modulates task-induced activations and deactivations in healthy elders, amnestic mild cognitive impairment and mild Alzheimer's disease

scientific article published on 20 May 2009

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

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

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

scientific article published on 25 October 2017

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Comparison of Pittsburgh compound B and florbetapir in cross-sectional and longitudinal studies

article

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

scientific article published on 16 January 2020

Cortical brain metabolism as measured by proton spectroscopy is related to memory performance in patients with amnestic mild cognitive impairment and Alzheimer's disease.

scientific article published on 23 August 2007

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

scientific article published on 27 April 2017

Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease

scientific article published on January 2014

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

scientific article

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

scientific article published on 16 December 2010

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

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

scientific article published on 6 December 2012

Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers.

scientific article published on 4 December 2012

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

scientific article published in April 2013

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

scientific article

Evolving brain structural changes in PSEN1 mutation carriers.

scientific article published on 24 December 2014

First demonstrated de novo insertion in the prion protein gene in a young patient with dementia

article

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

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

scientific article published on 19 February 2015

Hirano body-rich subtypes of Creutzfeldt-Jakob disease

scientific article

Improved Cerebrospinal Fluid-Based Discrimination between Alzheimer's Disease Patients and Controls after Correction for Ventricular Volumes

scientific article published on January 2017

In vivo decreased dopamine transporter uptake in corticobasal degeneration presenting with primary progressive aphasia without parkinsonism.

scientific article published in July 2014

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

scientific article published in January 2010

Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.

scientific article published on 2 February 2012

Interactions of cognitive reserve with regional brain anatomy and brain function during a working memory task in healthy elders.

scientific article published on 30 October 2008

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

scientific article published on 20 June 2014

Large APP locus duplication in a sporadic case of cerebral haemorrhage

scientific article published on 02 April 2014

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

scientific article published on 12 October 2007

Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease

scientific article published on 4 September 2013

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

scientific article published in August 2007

Naming is associated with left temporal pole metabolite levels in neurodegenerative diseases.

scientific article published on 23 January 2008

Neurodegenerative disease status and post-mortem pathology in idiopathic rapid-eye-movement sleep behaviour disorder: an observational cohort study

scientific article published on 3 April 2013

Neurodegenerative disorder risk in idiopathic REM sleep behavior disorder: study in 174 patients

scientific article

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

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

scientific article published on 06 February 2013

Neuropsychological profile of prodromal Alzheimer's disease (Prd-AD) and their radiological correlates.

scientific article

New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease

scientific article published in January 2010

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

PICOGEN: five years experience with a genetic counselling program for dementia.

scientific article published on 11 November 2010

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

Phosphorylated tau in cerebrospinal fluid as a marker for Creutzfeldt-Jakob disease

scientific article published on July 2002

Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers

scientific article published on 28 November 2019

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

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

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

scientific article

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia

scientific article published on 01 November 2018

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

scientific article

Rapidly progressive dementia with psychotic onset in a patient with the C9ORF72 mutation.

scientific article

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

scientific article published on 28 September 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

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

scientific article published on 17 February 2018

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis

scientific article published on 17 September 2013

Reply: To PMID 23794434.

scientific article published on 7 March 2014

Screening for amnestic mild cognitive impairment and early Alzheimer's disease with M@T (Memory Alteration Test) in the primary care population.

scientific article published on April 2007

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

scientific article published on 01 December 2019

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

Sporadic MM2-thalamic + cortical Creutzfeldt-Jakob disease: Utility of diffusion tensor imaging in the detection of cortical involvement in vivo.

scientific article published on 6 November 2015

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy

scientific article published in February 2014

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

scientific article published on 19 January 2014

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article

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.

scientific article

The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease

scientific article

The memory alteration test (M@T) discriminates between subjective memory complaints, mild cognitive impairment and Alzheimer's disease

scientific article

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

scientific article published in January 2014

Validation of 14-3-3 Protein as a Marker in Sporadic Creutzfeldt-Jakob Disease Diagnostic

scientific article published on 7 May 2015

Voxel based morphometry features and follow-up of amnestic patients at high risk for Alzheimer's disease conversion

scientific article published in August 2009

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

scientific article

YKL-40 in the brain and cerebrospinal fluid of neurodegenerative dementias.

scientific article published on 10 November 2017

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

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