List of works - Rita Guerreiro

A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

scientific article published on 16 September 2015

A comprehensive analysis of copy number variation in a Turkish dementia cohort

scientific article published in 2021

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

scientific article published on 24 October 2018

A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia

scientific article published on 23 December 2019

A new way APP mismetabolism can lead to Alzheimer's disease

scientific article published on 27 April 2011

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

scientific article published on 28 June 2013

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

scientific article published on 7 December 2012

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

scientific article published on 13 November 2013

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation

scientific article

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

scientific article

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

scientific article published on 20 April 2016

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 27 November 2019

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

scientific article

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

scientific article

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

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of shared heritability in common disorders of the brain

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

scientific article published on 10 April 2014

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

scientific article published on 30 December 2015

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

scientific article published on 21 October 2016

Clusterin as an Alzheimer biomarker.

scientific article published in November 2011

Complement receptor 1 (CR1) and Alzheimer's disease

scientific article published on 23 July 2011

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

scientific article published on 21 December 2007

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

scientific article published on 12 January 2018

Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.

scientific article published on 11 June 2019

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

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

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

scholarly article published in Nature Genetics

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

article

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

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

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

scientific article

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease

scientific article published in January 2015

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

scientific article

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

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)

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

scientific article published on 4 January 2012

Genetics of Alzheimer's disease

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

Genetics of dementia in a Finnish cohort.

scientific article published on 23 February 2018

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

scientific article published on 2 November 2015

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

scientific article

Genotyping of the Alzheimer’s Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort

scholarly article by Keeley J. Brookes et al published 19 June 2018 in Journal of Alzheimer's Disease

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

scientific article

Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice

scientific article

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

scientific article

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

scientific article published on 30 January 2013

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

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

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

Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?

scientific article published on 24 October 2018

Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family

scientific article published on 24 January 2018

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

scientific article published on 29 November 2017

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

scientific article

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

scientific article published on 2 February 2018

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

scientific article published on 14 March 2022

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

scientific article published on 28 March 2017

Mutant ADA2 in vasculopathies

article published in 2014

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

scientific article published on 23 September 2016

Mutation of TBCK causes a rare recessive developmental disorder

scientific article published on 24 May 2016

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

scientific article

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

scientific article

NOTCH3 variants and risk of ischemic stroke

scientific article

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

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

scientific article

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

scientific article

Nonsense mutation in PRNP associated with clinical Alzheimer's disease

scientific article

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

scientific article published on 23 April 2020

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

scientific article published on July 2010

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

scientific article published on 01 January 2019

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

scientific article published on 10 October 2017

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

scientific article published on 14 July 2016

RARS2 mutations in a sibship with infantile spasms

scientific article published on 8 April 2016

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

scientific article

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

scientific article

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

scientific article

Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease

scientific article published on 29 December 2015

Screening for VPS35 mutations in Parkinson's disease

scientific article published on 7 December 2011

SnapShot: Genetics of ALS and FTD.

scientific article

SnapShot: genetics of Alzheimer's disease

scientific article

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

scientific article published on 13 April 2017

TREM2 Variants in Alzheimer's Disease

scientific article

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Tau acts as an independent genetic risk factor in pathologically proven PD.

scientific article published on 4 January 2012

The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions

article

The age factor in Alzheimer's disease

scientific article published on 20 October 2015

The clinical syndrome of dystonia with anarthria/aphonia

scientific article

The genetic landscape of Alzheimer disease.

scientific article published in January 2018

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

scientific article published on 19 May 2016

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

scientific article

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

scientific article published on 12 February 2009

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

scientific article published on 20 June 2012

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

scientific article published on 13 August 2012

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

scientific article published on 14 February 2013

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation

scientific article published in 2022

List of works by Rita Guerreiro

A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

A comprehensive analysis of copy number variation in a Turkish dementia cohort

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

A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia

A new way APP mismetabolism can lead to Alzheimer's disease

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

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

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

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation

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

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

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

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

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

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

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Analysis of shared heritability in common disorders of the brain

Analysis of shared heritability in common disorders of the brain

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

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

Clusterin as an Alzheimer biomarker.

Complement receptor 1 (CR1) and Alzheimer's disease

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

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

Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.

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

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

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

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

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

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

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

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease

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

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

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

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

Genetics of Alzheimer's disease

Genetics of dementia in a Finnish cohort.

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

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

Genotyping of the Alzheimer’s Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Heritability and genetic variance of dementia with Lewy bodies

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease

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

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

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

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

Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?

Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family

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

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

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Missense variant in TREML2 protects against Alzheimer's disease

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Mutant ADA2 in vasculopathies

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

Mutation of TBCK causes a rare recessive developmental disorder

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

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

NOTCH3 variants and risk of ischemic stroke

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

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

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

Nonsense mutation in PRNP associated with clinical Alzheimer's disease

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

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

Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

RARS2 mutations in a sibship with infantile spasms

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

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