List of works - Rita Guerreiro

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

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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)

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

scientific article

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

scientific article

Insights into TREM2 biology by network analysis of human brain gene expression data

scientific article

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

scientific article published on 20 June 2012

Complement receptor 1 (CR1) and Alzheimer's disease

scientific article published on 23 July 2011

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

scientific article

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

SnapShot: genetics of Alzheimer's disease

scientific article

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

scientific article published on 21 December 2007

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

scientific article

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

scientific article published on 19 May 2016

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

scientific article published on July 2010

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

scientific article

Genetics of Alzheimer's disease

scholarly article by Rita Guerreiro & John Anthony Hardy published 1 October 2014 in Neurotherapeutics

SnapShot: Genetics of ALS and FTD.

scientific article

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

scientific article

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

scientific article published on 28 December 2010

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series

scientific article published on 21 October 2016

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

scientific article

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

scientific article

Screening for VPS35 mutations in Parkinson's disease

scientific article published on 7 December 2011

SnapShot: Genetics of Parkinson’s Disease

scientific article published on January 29, 2015

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

scientific article

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

scientific article

The age factor in Alzheimer's disease

scientific article published on 20 October 2015

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009

Mutant ADA2 in Vasculopathies

scientific article published on July 31, 2014

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Nonsense mutation in PRNP associated with clinical Alzheimer's disease

scientific article

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

scientific article published on 29 November 2017

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

scientific article

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

scientific article

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

scientific article

List of works by Rita Guerreiro

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

TREM2 Variants in Alzheimer's Disease

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Insights into TREM2 biology by network analysis of human brain gene expression data

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

Complement receptor 1 (CR1) and Alzheimer's disease

Missense variant in TREML2 protects against Alzheimer's disease

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

SnapShot: genetics of Alzheimer's disease

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Genetics of Alzheimer's disease

SnapShot: Genetics of ALS and FTD.

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

Screening for VPS35 mutations in Parkinson's disease

SnapShot: Genetics of Parkinson’s Disease

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

The age factor in Alzheimer's disease

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

Mutant ADA2 in Vasculopathies

TYROBP genetic variants in early-onset Alzheimer's disease

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Nonsense mutation in PRNP associated with clinical Alzheimer's disease

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease