R. Guerreiro

发表

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

Thomas W. Mühleisen, Michelle K. Lupton, A. Singleton, 2009, Nature Genetics.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes

Nick C Fox, Thomas W. Mühleisen, Michelle K. Lupton, 2009, Nature Genetics.

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

Mark T. W. Ebbert, A. Singleton, N. Price, 2017, Genome Medicine.

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

Thomas W. Mühleisen, Michelle K. Lupton, A. Singleton, 2013, Nature Genetics.

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

Nick C Fox, Thomas W. Mühleisen, Michelle K. Lupton, 2009 .

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Brain : a journal of neurology.

Genotype, haplotype and copy-number variation in worldwide human populations

Zachary A. Szpiech, Sonja W. Scholz, D. Hernandez, 2008, Nature.

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

Nick C Fox, Thomas W. Mühleisen, Michelle K. Lupton, 2011, Nature Genetics.

TREM2 variants in Alzheimer's disease.

A. Singleton, J. Hardy, P. S. St George-Hyslop, 2013, The New England journal of medicine.

Alzheimer’s disease polygenic risk score as a predictor of conversion from mild-cognitive impairment

J. Hardy, K. Morgan, C. Holmes, 2019, Translational Psychiatry.

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

Nick C Fox, Cory C. Funk, D. G. Clark, 2017, Nature Genetics.

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

D. Hernandez, A. Singleton, J. Hardy, 2018, Neurobiology of Aging.

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

Erick R. Scott, Michelle K. Lupton, D. Hernandez, 2013, Nature.

The age factor in Alzheimer’s disease

Rita Guerreiro, R. Guerreiro, J. Bras, 2015, Genome Medicine.

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

Eden R Martin, Seth Love, Brian Lawlor, 2019, Nature Genetics.

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

Mohamad Saad, Peter Holmans, Nicholas W Wood, 2013, Human molecular genetics.

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

M. Pirinen, P. Donnelly, C. Spencer, 2012 .

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease

Seth Love, Brian Lawlor, Martin Rossor, 2010, PloS one.

Cost-effectiveness of cladribine tablets versus fingolimod in patients with highly active relapsing multiple sclerosis in Portugal

R. Guerreiro, L. S. Miguel, João Costa, 2020, Journal of medical economics.

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE

John Hardy, J. Hardy, R. Guerreiro, 2012, Neurobiology of Aging.

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Demis A. Kia, A. Ramasamy, C. Webber, 2020, Brain : a journal of neurology.

The clinical syndrome of dystonia with anarthria/aphonia.

R. Guerreiro, S. Schneider, A. Batla, 2016, Parkinsonism & related disorders.

Identification of Stk25 as a Genetic Modifier of Tau Phosphorylation in Dab1-Mutant Mice

Jonathan A. Cooper, M. Cookson, J. Hardy, 2012, PloS one.

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

D. G. Clark, M. Fornage, A. Hofman, 2018, Alzheimer's & dementia.

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

Michelle K. Lupton, A. Singleton, J. Hardy, 2014, Neurobiology of Aging.

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, The Lancet Neurology.

H‐ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

J. Hardy, N. Quinn, R. Guerreiro, 2015, Movement disorders : official journal of the Movement Disorder Society.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

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

R. Guerreiro, J. Hardy, J. Pocock, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A Case of Dementia With PRNP D178Ncis-129M and No Insomnia

A. Singleton, J. Hardy, R. Guerreiro, 2009, Alzheimer disease and associated disorders.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

J. Gallacher, M. Fornage, I. Giegling, 2018, bioRxiv.

Title : Polygenic risk score in post-mortem diagnosed sporadic early onset Alzheimer ’ s disease

D. Hernandez, A. Singleton, J. Hardy, 2018 .

Insights into TREM 2 biology by network analysis of human brain gene expression data

A. Ramasamy, J. Hardy, M. Weale, 2013 .

Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank

R. Guerreiro, J. Bras, James Eapen, 2022, Scientific Reports.

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia

Colin J. Mahoney, Jennifer M. Nicholas, N. Fox, 2014, Alzheimer's & Dementia.

Epilepsies, IMSGC consortium, IPDGC consortium, METASTROKE and Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium, Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium, Anorexia Nervosa Working Group of the Psychiatric Genomics C

M. Daly, G. Breen, P. Holmans, 2016 .

Screening for VPS35 mutations in Parkinson's disease

R. Guerreiro, T. Foltynie, K. Bhatia, 2012, Neurobiology of Aging.

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

J. Collinge, R. Guerreiro, G. Jackson, 2010, Human mutation.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Sonja W. Scholz, Demis A. Kia, D. Hernandez, 2018, JAMA neurology.

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

J. Hardy, R. Guerreiro, D. Campion, 2013, JAMA neurology.

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

C. Broeckhoven, R. Guerreiro, I. Santana, 2016, Neurobiology of Aging.

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, NeuroImage: Clinical.

Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21: 22 (2012) 4996-5009] doi: 10.1093/hmg/dds335]

D. Hernandez, M. Nalls, A. Singleton, 2013 .

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients

Murat Emre, Hakan Gurvit, A. Singleton, 2012, Neurobiology of Aging.

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

A. Singleton, R. Guerreiro, E. Sidransky, 2009, Neurobiology of Aging.

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

R. Barker, J. Hardy, D. Burn, 2012, Neurobiology of Aging.

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

A. Singleton, J. Hardy, R. Guerreiro, 2008, Movement disorders : official journal of the Movement Disorder Society.

Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci

Jason J. Corneveaux, D. Hernandez, M. Nalls, 2013, Annals of human genetics.

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

Nick C Fox, Tamas Revesz, Gary Adamson, 2016, The Lancet Neurology.

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Nick C Fox, Jennifer M. Nicholas, J. Morris, 2019, The Lancet Neurology.

Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum

R. Guerreiro, J. Bras, I. Santana, 2022, Frontiers in Neurology.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

Independent phenotypic plasticity axes define distinct obesity sub-types

P. Gluckman, J. Nadeau, A. Vaag, 2022, Nature Metabolism.

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon’s Syndrome of Unknown Cause

R. Guerreiro, I. Santana, G. Santo, 2019, Cerebrovascular Diseases.

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

A. Singleton, J. Hardy, R. Guerreiro, 2012, JAMA neurology.

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

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

R. Guerreiro, J. Bras, I. Santana, 2022, neurogenetics.

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

D. Hernandez, A. Singleton, N. Williams, 2011, Journal of Neurology.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

B. Dubois, R. Guerreiro, A. Brice, 2014, Neurobiology of Aging.

The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia

Nick C Fox, M. Freedman, S. Ourselin, 2022, Annals of clinical and translational neurology.

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

Nick C Fox, Phillip D. Fletcher, R. Guerreiro, 2015, Journal of Alzheimer's disease : JAD.

Psychiatric Manifestations of ATP13A2 Mutations

R. Guerreiro, K. Bhatia, J. Bras, 2020, Movement disorders clinical practice.

Whole-exome sequencing of Finnish patients with vascular cognitive impairment

J. Schleutker, R. Guerreiro, J. Bras, 2020, European Journal of Human Genetics.

In situ proximity labeling identifies Lewy pathology molecular interactions in the human brain

R. Guerreiro, J. Kordower, Y. Chu, 2022, Proceedings of the National Academy of Sciences.

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

Peter Holmans, Alexandra Durr, Manu Sharma, 2013, JAMA neurology.

CLN8 disease caused by large genomic deletions

R. Guerreiro, J. Bras, A. Taratuto, 2016, Molecular genetics & genomic medicine.

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease

D. Erskine, J. Attems, R. Guerreiro, 2022, Brain : a journal of neurology.

Prion-like α-synuclein pathology in the brains of infants: Krabbe disease as a novel seed-competent α-synucleinopathy

D. Erskine, J. Attems, R. Guerreiro, 2021, bioRxiv.

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, The Lancet Neurology.

TREM2 and neurodegenerative disease.

J. Hardy, R. Guerreiro, J. Hardy, 2013, The New England journal of medicine.

SnapShot: Genetics of ALS and FTD

J. Hardy, R. Guerreiro, J. Bras, 2015, Cell.

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009)

Nick C Fox, Moskvina, D. Rujescu, 2013 .

LRP10 in α-synucleinopathies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, The Lancet Neurology.

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

Rita Guerreiro, R. Guerreiro, J. Bras, 2018, Current Neurology and Neuroscience Reports.

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

Sonja W. Scholz, John D. Eicher, D. Hernandez, 2018, The Lancet Neurology.

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

W. M. van der Flier, D. Hernandez, M. Nalls, 2014, Human molecular genetics.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

R. Guerreiro, S. Schneider, J. Bras, 2012, Human molecular genetics.

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

A. Singleton, J. Hardy, R. Guerreiro, 2009, Brain : a journal of neurology.

Genetic architecture of common non-Alzheimer’s disease dementias

R. Guerreiro, J. Bras, G. Santo, 2020, Neurobiology of Disease.

Running Title: Whole-exome sequencing of the BDR cohort: Evidence to support the role of the PILRA gene in Alzheimer’s disease

D. Hernandez, A. Singleton, J. Hardy, 2017 .

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

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

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

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

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

Michelle K. Lupton, A. Singleton, J. Hardy, 2014, Neurobiology of Aging.

Complement receptor 1 (CR1) and Alzheimer's disease.

R. Guerreiro, J. Hardy, J. Pocock, 2012, Immunobiology.

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

R. Guerreiro, J. Bras, K. Tylee, 2020, Journal of veterinary internal medicine.

A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

Simon C. Potter, M. Pirinen, D. Hernandez, 2011, PLoS genetics.

Genetics of synucleins in neurodegenerative diseases

R. Guerreiro, J. Bras, Elizabeth Gibbons, 2020, Acta Neuropathologica.

Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

J. Hardy, R. Guerreiro, H. Zetterberg, 2014, Current Genetic Medicine Reports.

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

Michelle K. Lupton, W. M. van der Flier, D. Hernandez, 2016, Neurobiology of Aging.

Genetics of Alzheimer's disease.

J. Hardy, R. Guerreiro, M. Hutton, 1998, Essays in biochemistry.

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

A. Singleton, P. Holmans, R. Guerreiro, 2015, Human molecular genetics.

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

A. Singleton, J. Hardy, R. Guerreiro, 2014, Human molecular genetics.

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

J. Hardy, M. Rossor, S. Mead, 2012, Neurobiology of Aging.

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice

A. Pavlovic, U. Dirnagl, J. Schleutker, 2021, Scientific Reports.

A Non-APOE Polygenic Risk Score for Alzheimer’s Disease Is Associated With Cerebrospinal Fluid Neurofilament Light in a Representative Sample of Cognitively Unimpaired 70-Year Olds

K. Blennow, R. Guerreiro, S. Kern, 2021, The journals of gerontology. Series A, Biological sciences and medical sciences.

Polygenic risk scores for Alzheimer's disease are related to dementia risk in APOE ɛ4 negatives

K. Blennow, J. Hardy, R. Guerreiro, 2021, Alzheimer's & dementia.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Genetic Variability in CLU and Its Association with Alzheimer's Disease

Nick C Fox, M. Nalls, A. Singleton, 2010, PloS one.

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

Michelle K. Lupton, M. Nalls, A. Singleton, 2016, PloS one.

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

M. Nalls, J. Hardy, R. Guerreiro, 2009, neurogenetics.

Explorer Insights into TREM 2 biology by network analysis of human brain gene expression data

A. Ramasamy, J. Hardy, M. Weale, 2016 .

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

Jennifer M. Pocock, John Hardy, Michael E. Weale, 2013, Neurobiology of Aging.

A thorough assessment of benign genetic variability in GRN and MAPT

A. Singleton, J. Hardy, R. Guerreiro, 2010, Human mutation.

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

J. Hardy, R. Guerreiro, J. Bras, 2019, Acta Neuropathologica Communications.

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders

K. Zahs, R. Guerreiro, J. Bras, 2018, The Lancet Neurology.

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

Michelle K. Lupton, M. Nalls, A. Singleton, 2018, Neurobiology of Aging.

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

J. Hardy, R. Guerreiro, J. Bras, 2012, Nature Reviews Neuroscience.

SnapShot: Genetics of Alzheimer’s Disease

John Hardy, Rita Guerreiro, J. Hardy, 2013, Cell.

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

John Hardy, Rita Guerreiro, J. Hardy, 2012, Neurobiology of Aging.

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

A. Singleton, J. Hardy, R. Guerreiro, 2008, BMC neurology.

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

Thomas W. Mühleisen, Michelle K. Lupton, A. Singleton, 2012, Journal of Alzheimer's disease : JAD.

Heritability and genetic variance of dementia with Lewy bodies

Sonja W. Scholz, D. Hernandez, A. Singleton, 2018, Neurobiology of Disease.

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

R. Guerreiro, J. Bras, S. Camargos, 2018, Neurology: Genetics.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

R. Guerreiro, J. Bras, J. Barros, 2022, Cells.

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

J. Hardy, R. Guerreiro, J. Bras, 2015, American journal of human genetics.

1 Analysis of Shared Heritability in Common Disorders of the Brain 1

M. Daly, G. Breen, P. Holmans, 2017 .

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease

R. Guerreiro, J. Bras, Elizabeth Gibbons, 2022, Molecular Neurodegeneration.

How understudied populations have contributed to our understanding of Alzheimer’s disease genetics

R. Guerreiro, J. Bras, N. Dehghani, 2020, bioRxiv.

TREM2 Variants in Alz hei mer's Disease

A. Singleton, L. Hazrati, K. Morgan, 2012 .

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

A. Singleton, J. Molinuevo, J. Hardy, 2010, Neurobiology of Aging.

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

J. Hardy, R. Guerreiro, N. Graff-Radford, 2014, Neurobiology of Aging.

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

R. Guerreiro, S. Boyd, J. Bras, 2017, Tremor and other hyperkinetic movements.

University of Dundee TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus Ngoh,

R. Guerreiro, J. Bras, M. Kurian, 2017 .

The age factor in Alzheimer’s disease

R. Guerreiro, J. Bras, 2015, Genome Medicine.

NOTCH3 Variants and Risk of Ischemic Stroke

M. Nalls, A. Singleton, D. Serie, 2013, PloS one.

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

A. Singleton, R. Guerreiro, J. R. Gibbs, 2012, Neurobiology of Aging.

The genetic landscape of Alzheimer disease.

John Hardy, Rita Guerreiro, J. Hardy, 2018, Handbook of clinical neurology.

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

J. Hardy, R. Guerreiro, J. Bras, 2016, Genes, brain, and behavior.

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

R. Guerreiro, J. Bras, H. Gurvit, 2021, Human Genomics.

Alzheimer’s Disease Genetics: Review of Novel Loci Associated with Disease

R. Guerreiro, J. Bras, I. Santana, 2020, Current Genetic Medicine Reports.

Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Jennifer M. Nicholas, M. Freedman, N. Fox, 2021, Alzheimer's & dementia.

Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2020, Cortex.

LRP10 in α-synucleinopathies

D. Hernandez, J. Morris, J. Trojanowski, 2018, The Lancet Neurology.

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

D. Hernandez, A. Singleton, J. Hardy, 2017, Neurobiology of Aging.

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

Nicholas W. Wood, Thomas Gasser, John Hardy, 2015, Neurology: Genetics.

Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2

R. Guerreiro, J. Bras, G. Santo, 2021, Neuromuscular Disorders.

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

D. Hernandez, A. Singleton, D. Neary, 2015 .

TYROBP genetic variants in early-onset Alzheimer's disease

Ronald C. Petersen, Guojun Bu, Cyril Pottier, 2016, Neurobiology of Aging.

Revisiting the genetics of APOE

R. Guerreiro, J. Bras, S. Carmona, 2017 .

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

A. Singleton, J. Hardy, R. Guerreiro, 2006, BMC neurology.

Clusterin as an Alzheimer biomarker.

J. Hardy, S. Lovestone, R. Guerreiro, 2011, Archives of neurology.

Alzheimer's disease genetics: lessons to improve disease modelling.

J. Hardy, R. Guerreiro, J. Hardy, 2011, Biochemical Society transactions.

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013)

Mohamad Saad, Nicholas W. Wood, Gibbs, 2013 .

Investigating the genetic architecture of Dementia with Lewy bodies: a genome-wide association study

Sonja W. Scholz, D. Hernandez, A. Singleton, 2018 .

Patients with progranulin mutations overlap with the progressive dysexecutive syndrome: towards the definition of a frontoparietal dementia phenotype

R. Guerreiro, I. Santana, I. Baldeiras, 2020, Brain communications.

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, Brain : a journal of neurology.

[The chemokines and their receptors: characteristics and physiological functions].

R. Guerreiro, Q. Santos-Costa, J. M. Azevedo-Pereira, 2011, Acta Médica Portuguesa.

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, Neurobiology of Aging.

Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease

W. M. van der Flier, A. Uitterlinden, R. Redon, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

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

A. Singleton, J. Hardy, M. Viitanen, 2017, Brain : a journal of neurology.

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

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, The Lancet Neurology.

Reconsidering the role of blood-brain barrier in Alzheimer’s disease: From delivery to target

R. Guerreiro, J. Bras, J. Sargento-Freitas, 2023, Frontiers in Aging Neuroscience.

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

J. Hardy, R. Guerreiro, 2011, EMBO molecular medicine.

First stage association analysis of neuropatholically proven PD confirms MAPT as an independent risk factor for PD

Janice L. Holton, Andrew J. Lees, Nicholas W. Wood, 2012 .

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

D. Hernandez, M. Nalls, A. Singleton, 2013, Human molecular genetics.

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

Michelle K. Lupton, D. Hernandez, A. Singleton, 2018, Molecular Psychiatry.

The association of circulating amylin with β‐amyloid in familial Alzheimer's disease

J. Hardy, G. Jicha, R. Guerreiro, 2021, Alzheimer's & dementia.

SnapShot: Genetics of Parkinson’s Disease

John Hardy, Rita Guerreiro, J. Hardy, 2015, Cell.

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

Nick C Fox, J. Hardy, M. Rossor, 2013, JAMA neurology.

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2020, NeuroImage: Clinical.

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

Sonja W. Scholz, D. Hernandez, J. Morris, 2019, Neurobiology of Aging.

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, medRxiv.

CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort.

R. Guerreiro, J. Bras, I. Santana, 2020, Brain : a journal of neurology.

Missense variant in TREML2 protects against Alzheimer's disease

Michelle K. Lupton, A. Singleton, J. Haines, 2014, Neurobiology of Aging.

Missense variant in TREML 2 protects against Alzheimer ’ s Disease

Timothy Edward John Behrens, Denise, Michelle K. Lupton, 2013 .

Genetic variants in glutamate-, Aβ−, and tau-related pathways determine polygenic risk for Alzheimer's disease

Alan J. Thomas, J. Hardy, K. Morgan, 2020, Neurobiology of Aging.

Differential early subcortical involvement in genetic FTD within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, NeuroImage: Clinical.

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

Nicholas Eriksson, Margaret Sutherland, Mohamad Saad, 2015, Neurobiology of Aging.

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

C. Mummery, R. Guerreiro, M. Bocchetta, 2019, Neurobiology of Aging.

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

A. Singleton, J. Hardy, R. Guerreiro, 2016, PloS one.

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features

J. Hardy, R. Guerreiro, M. Emre, 2021, European journal of neurology.

A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

R. Guerreiro, J. Rohrer, H. Gurvit, 2013, Neurobiology of Aging.

A comprehensive assessment of benign genetic variability for neurodegenerative disorders

Michelle K. Lupton, D. Hernandez, A. Singleton, 2018, bioRxiv.

Mutation of TBCK causes a rare recessive developmental disorder

R. Guerreiro, J. Bras, S. Mole, 2016, Neurology: Genetics.

Congenital ataxia due to novel variant in ATP8A2

R. Guerreiro, J. Bras, S. Cavaco, 2021, Clinical genetics.

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

A. Pavlovic, J. Schleutker, R. Guerreiro, 2022, Neurobiology of Aging.

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

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Primary familial brain calcification linked to deletion of 5’ noncoding region of SLC20A2

M. Viitanen, R. Guerreiro, M. Baumann, 2017, Acta neurologica Scandinavica.

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

A. Singleton, J. Hardy, R. Guerreiro, 2008, PloS one.

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

J. Molinuevo, S. Mead, R. Guerreiro, 2016, Neurobiology of Aging.

RARS2 mutations in a sibship with infantile spasms

R. Guerreiro, R. Thornton, J. Bras, 2016, Epilepsia.

Atypical Parkinsonism‐Dystonia Syndrome Caused by a Novel DJ1 Mutation

J. Hardy, R. Guerreiro, S. Schneider, 2014, Movement disorders clinical practice.

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

R. Guerreiro, J. Hardy, J. Pocock, 2019, bioRxiv.

Peripheral Inflammatory Cytokines as Biomarkers in Alzheimer’s Disease and Mild Cognitive Impairment

R. Guerreiro, I. Santana, C. Oliveira, 2007, Neurodegenerative Diseases.

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

R. Guerreiro, J. Bras, I. Alonso, 2020, Journal of clinical medicine.

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

D. Hernandez, A. Singleton, J. Morris, 2020, Acta Neuropathologica Communications.

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

A. Singleton, J. Hardy, R. Guerreiro, 2005, Movement disorders : official journal of the Movement Disorder Society.

KCNN2 mutation in autosomal‐dominant tremulous myoclonus‐dystonia

R. Guerreiro, K. Bhatia, C. Cordivari, 2020, European journal of neurology.

Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes

R. Guerreiro, J. Bras, I. Santana, 2022, European journal of neurology.

Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease

D. Hernandez, A. Singleton, J. Hardy, 2018, Neuropathology and applied neurobiology.

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

Jennifer M. Nicholas, M. Freedman, S. Ourselin, 2021, Molecular Neurodegeneration.

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.

A. Singleton, J. Hardy, R. Guerreiro, 2019, Journal of Alzheimer's disease : JAD.

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

D. Neary, M. Rossor, N. Cairns, 2009, Neurobiology of Aging.

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

D. Neary, M. Rossor, N. Cairns, 2009 .

Genetics of dementia in a Finnish cohort

A. Paetau, J. Hardy, R. Guerreiro, 2018, European Journal of Human Genetics.

A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

J. Hardy, R. Guerreiro, A. Brice, 2014, Journal of Alzheimer's disease : JAD.

TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium.

John Hardy, J. Hardy, R. Guerreiro, 2012, Archives of neurology.

P1-348 Early onset familial Alzheimer’s disease: First Portuguese cases

J. Hardy, R. Guerreiro, E. Rogaeva, 2006, Alzheimer's & Dementia.

An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers

J. Hardy, R. Guerreiro, J. Bras, 2018, Front. Aging Neurosci..

Genetic analysis reveals novel variants for vascular cognitive impairment

J. Schleutker, R. Guerreiro, J. Bras, 2022, Acta neurologica Scandinavica.

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

J. Molinuevo, J. Hardy, R. Guerreiro, 2009, Neurobiology of Aging.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

R. Guerreiro, J. Alroy, J. Bras, 2016, Journal of neuroscience research.

Erratum: A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492

D. Hernandez, M. Nalls, A. Singleton, 2014 .

The heritability and genetics of frontotemporal lobar degeneration

Nick C Fox, J. Hardy, M. Rossor, 2009, Neurology.

Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

John X. Morris, Elisabet, Sonja W. Scholz, 2022, medRxiv.

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

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

J. Hardy, R. Guerreiro, J. Bras, 2019, Acta Neuropathologica Communications.

Genetics of Alzheimer’s Disease

J. Hardy, R. Guerreiro, J. Hardy, 2014, Neurotherapeutics.

Chloral Hydrate as a Sedating Agent for Neurodiagnostic Procedures in Children

R. Fernandes, R. Guerreiro, J. Crispim, 2018 .

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

Erick R. Scott, Michelle K. Lupton, D. Hernandez, 2013, Nature.

The heritability and genetics of frontotemporal lobar degeneration

Nick C Fox, M. Rossor, S. Mead, 2009, Neurology.

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

Genetic, Nick C Fox, Michelle K. Lupton, 2019, Nature Genetics.

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

A. Singleton, R. Guerreiro, J. Rohrer, 2012, JAMA neurology.

NEUROIMAGING FINDINGS OF NASU-HAKOLA DISEASE

R. Guerreiro, H. Gurvit, M. Emre, 2014, Alzheimer's & Dementia.

Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease

D. Dickson, R. Guerreiro, M. Heckman, 2023, Brain : a journal of neurology.

Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease

Thomas W. Mühleisen, Michelle K. Lupton, A. Singleton, 2010, PloS one.

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

D. Hernandez, D. Stone, R. Petersen, 2017, Neurobiology of Aging.

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

K. Morgan, R. Guerreiro, J. Bras, 2018, Journal of Alzheimer's disease : JAD.