List of works - Carlos Cruchaga

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

scientific article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

TREM2 Variants in Alzheimer's Disease

scientific article published on November 14, 2012

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

scientific article

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Human apoE isoforms differentially regulate brain amyloid-β peptide clearance

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Rare coding variants in the phospholipase D3 gene confer risk 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

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

scientific article (publication date: 15 November 2010)

Alzheimer's disease genetics: from the bench to the clinic

scientific article published on July 2014

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

scientific article

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

scientific article published on 20 September 2017

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

scientific article

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

scientific article (publication date: 2012)

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

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.

scientific article published on 14 May 2009

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

scientific article

Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains

scientific article

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

scientific article

Coding variants in TREM2 increase risk for Alzheimer's disease

scientific article

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

scientific article

A novel Alzheimer disease locus located near the gene encoding tau protein.

scientific article

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

scientific article published on 5 February 2013

Common polygenic variation enhances risk prediction for Alzheimer's disease

scientific article published on 21 October 2015

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

scientific article published on 11 January 2016

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

scientific article (publication date: November 2009)

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific article

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

scientific article published on 19 June 2017

SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease

scientific article

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

scientific article

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

scholarly article

Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

scientific article

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

scientific article

Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers II: Sigma-2/PGRMC1 receptors mediate Abeta 42 oligomer binding and synaptotoxicity

scientific article

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

scientific article published on 10 April 2015

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

scientific article published on June 2013

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

scientific article

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

scientific article

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

scientific article

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

scientific article published in 2011

The epigenetic landscape of Alzheimer's disease.

scientific article

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

scientific article

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

scientific article published on 6 February 2017

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

scientific article

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

TREM2 and Neurodegenerative Disease

scientific article published on 01 October 2013

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

scientific article

List of works by Carlos Cruchaga

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

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

TREM2 Variants in Alzheimer's Disease

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Human apoE isoforms differentially regulate brain amyloid-β peptide clearance

Analysis of shared heritability in common disorders of the brain

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

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

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

Alzheimer's disease genetics: from the bench to the clinic

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

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

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains

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

Coding variants in TREM2 increase risk for Alzheimer's disease

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

A novel Alzheimer disease locus located near the gene encoding tau protein.

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

Common polygenic variation enhances risk prediction for Alzheimer's disease

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers II: Sigma-2/PGRMC1 receptors mediate Abeta 42 oligomer binding and synaptotoxicity

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

Missense variant in TREML2 protects against Alzheimer's disease

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

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

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

The epigenetic landscape of Alzheimer's disease.

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

TREM2 and Neurodegenerative Disease

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers