Lista de obras - Jordi Clarimón - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

Assessment of PINK1 (PARK6) polymorphisms in Finnish PD

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Investigation of c9orf72 in 4 neurodegenerative disorders

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2004

Parkinson's disease: from genetics to clinical practice

artículo científico

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 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

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2013

Reelin signaling pathway genotypes and Alzheimer disease in a Spanish population

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Lista de obras de 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

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

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

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

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

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

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

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

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

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

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

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

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

Assessment of PINK1 (PARK6) polymorphisms in Finnish PD

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Homocysteine and cognitive impairment. Relation with diagnosis and neuropsychological performance

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

Investigation of c9orf72 in 4 neurodegenerative disorders

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Parkinson's disease: from genetics to clinical practice

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

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

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

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration