List of works by Jordi Clarimón

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

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 megalin polymorphism associated with promoter activity and Alzheimer's disease risk.

scientific article published in June 2010

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel GSK-3beta inhibitor reduces Alzheimer's pathology and rescues neuronal loss in vivo.

scientific article

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

scientific article

A randomized, double-blind, placebo controlled-trial of triflusal in mild cognitive impairment: the TRIMCI study

scientific article published in January 2008

Activation of PKR causes amyloid ß-peptide accumulation via de-repression of BACE1 expression.

scientific article

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

scientific article published in April 2005

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

article

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

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

Assessment of PINK1 (PARK6) polymorphisms in Finnish PD

scientific article published on 19 July 2005

Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population

scientific article published in July 2007

Association of the Tau haplotype with Parkinson's disease in the Greek population

scientific article published on 01 July 2006

Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1.

scientific article published in August 2003

Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

scientific article published on 17 October 2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production

scientific article published on 24 October 2013

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

scientific article published on 16 November 2020

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

scientific article published on 17 September 2020

Cerebrospinal fluid β-amyloid and phospho-tau biomarker interactions affecting brain structure in preclinical Alzheimer disease

scientific article published on 13 June 2014

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

scientific article published on 20 September 2013

Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation

scientific article published in January 2010

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

scientific article published on 25 October 2017

Comparative analysis of Alu insertion sequences in the APP 5' flanking region in humans and other primates

scientific article

Comparison of 2 diagnostic criteria for the behavioral variant of frontotemporal dementia.

scientific article published on 21 May 2013

Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease

scientific article published on June 2006

Confluence of α-synuclein, tau, and β-amyloid pathologies in dementia with Lewy bodies

scientific article published on December 2013

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease

scientific article published in February 2005

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

scientific article published on 27 April 2017

Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes

scientific article published in March 2011

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

scientific article published on 6 December 2012

Early-onset familial lewy body dementia with extensive tauopathy: a clinical, genetic, and neuropathological study.

scientific article

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

scientific article published on 04 July 2016

Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.

scientific article published on 11 April 2012

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

scientific article

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

scientific article published on 07 May 2019

GSK3β polymorphisms, MAPT H1 haplotype and Parkinson's disease in a Greek cohort.

scientific article

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease

scientific article

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

scientific article

Genetic structure of north-west Africa revealed by STR analysis.

scientific article

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

Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.

scientific article published on 9 August 2012

Genetic variation in APOE cluster region and Alzheimer's disease risk.

scientific article published on 14 July 2011

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

scientific article published on 15 December 2011

HSP70-2 (HSPA1B) is associated with noncognitive symptoms in late-onset Alzheimer's disease.

scientific article published in September 2003

Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes

scientific article published on 23 October 2020

Homocysteine and cognitive impairment. Relation with diagnosis and neuropsychological performance

scientific article published on 20 November 2008

IGF-I gene variability is associated with an increased risk for AD.

scientific article published on 22 December 2010

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

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

scientific article published on 20 June 2014

Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population

scientific article published on June 2003

Lack of association between CX3CR1 V249I and T280M polymorphisms and risk of Parkinson's disease in a Greek population

scientific article published on 29 June 2012

Lack of association of the PICALM rs3851179 polymorphism with Parkinson's disease in the Greek population

scientific article published on 12 July 2012

Lack of association with TorsinA haplotype in German patients with sporadic dystonia

scientific article published on 01 March 2006

Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations

scientific article published on April 2007

MAPT H1 haplotype is associated with enhanced α-synuclein deposition in dementia with Lewy bodies

scientific article published on 21 July 2012

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article

Methylglyoxal produced by amyloid-β peptide-induced nitrotyrosination of triosephosphate isomerase triggers neuronal death in Alzheimer's disease.

scientific article published on January 2014

Mild cholesterol depletion reduces amyloid-beta production by impairing APP trafficking to the cell surface

scientific article published on 27 April 2009

Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.

scientific article published in July 2005

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

Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population

scientific article

Parkinson's disease: from genetics to clinical practice

scientific article published on December 2013

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

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

scientific article published on 4 December 2013

Possible increased risk for Alzheimer's disease associated with neprilysin gene

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 coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

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

Reelin signaling pathway genotypes and Alzheimer disease in a Spanish population

scientific article

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

scientific article published on 23 December 2016

The Effect of MAPT H1 and APOE ε4 on Transition from Mild Cognitive Impairment to Dementia

scientific article published on 01 January 2010

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

scientific article published on 01 August 2019

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

scientific article published in March 2008

Triflusal reduces dense-core plaque load, associated axonal alterations and inflammatory changes, and rescues cognition in a transgenic mouse model of Alzheimer's disease.

scientific article published on 10 February 2010

Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease

scientific article

Unique post-exercise electrophysiological test results in a new Andersen–Tawil syndrome mutation

scientific article published on 02 June 2011

Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans

scientific article

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

scientific article published on 2 April 2008

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