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List of works by Jordi Clarimón

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

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

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

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

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

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

scientific article published in March 2011
Confluence of α-synuclein, tau, and β-amyloid pathologies in dementia with Lewy bodies

scientific article published on December 2013
Genetic structure of north-west Africa revealed by STR analysis.

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

scientific article published on 6 December 2012
Cerebrospinal fluid β-amyloid and phospho-tau biomarker interactions affecting brain structure in preclinical Alzheimer disease

scientific article published on 13 June 2014
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

scientific article published on 15 December 2011
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article
Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 20 September 2013
Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

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
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

scientific article published in January 2008
Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease

scientific article published on June 2006
Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease

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

scientific article published on 27 April 2009
Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease

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

scientific article published on 21 July 2012
Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening

scientific article published in March 2008
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
Activation of PKR causes amyloid ß-peptide accumulation via de-repression of BACE1 expression.

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

scientific article published on 14 July 2011
IGF-I gene variability is associated with an increased risk for AD.

scientific article published on 22 December 2010
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm

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

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

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

scientific article published on 2 April 2008
Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation

scientific article published in January 2010
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

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

scientific article published on 20 June 2014
Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases

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

scientific article published on 01 March 2006
Homocysteine and cognitive impairment. Relation with diagnosis and neuropsychological performance

scientific article published on 20 November 2008
Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations

scientific article published on April 2007
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017
Parkinson's Disease: From Genetics to Clinical Practice

scientific article published on December 1, 2013
PICOGEN: five years experience with a genetic counselling program for dementia.

scientific article published on 11 November 2010
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease

scientific article published in February 2005

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