All Stories

  1. Correction: Challenge accepted: Uncovering the role of rare genetic variants in Alzheimer’s disease

    Article • Molecular Neurodegeneration, November 2022, Springer Science + Business Media

    Dr. Rita Guerreiro

  2. 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

    Article • Neurogenetics, September 2022, Springer Science + Business Media

    Dr. Rita Guerreiro

  3. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

    Article • Cells, March 2022, MDPI AG

    Dr. Rita Guerreiro

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

    Article • Molecular Neurodegeneration, January 2022, Springer Science + Business Media

    Dr. Rita Guerreiro

  5. Genetic variants in glutamate, Aβ and tau related pathways determine polygenic risk for Alzheimer’s disease

    Article • Neurobiology of Aging, November 2020, Elsevier

    Dr. Rita Guerreiro

  6. Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers

    Article • Annals of Neurology, May 2020, Wiley

    Dr. Rita Guerreiro

  7. KCNN2 mutation in autosomal‐dominant tremulous myoclonus‐dystonia

    Article • European Journal of Neurology, May 2020, Wiley

    Dr. Rita Guerreiro

  8. Genetic architecture of common non-Alzheimer’s disease dementias

    Article • Neurobiology of Disease, May 2020, Elsevier

    Dr. Rita Guerreiro

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

    Article • Journal of Clinical Medicine, April 2020, MDPI AG

    Dr. Rita Guerreiro

  10. Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia

    Article • Journal of Neurology Neurosurgery & Psychiatry, April 2020, BMJ

    Dr. Rita Guerreiro

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

    Article • Nature Communications, February 2020, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Current Genetic Medicine Reports, February 2020, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • The FASEB Journal, February 2020, Wiley

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, February 2020, Elsevier

    Dr. Rita Guerreiro

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

    Article • Acta Neuropathologica Communications, January 2020, Springer Science + Business Media

    Dr. Rita Guerreiro

  16. Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

    Article • Movement Disorders, January 2020, Wiley

    Dr. Rita Guerreiro

  17. Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia

    Article • Journal of Neurology Neurosurgery & Psychiatry, January 2020, BMJ

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, December 2019, Elsevier

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, December 2019, Elsevier

    Dr. Rita Guerreiro

  20. Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease

    Article • Journal of Medical Genetics, November 2019, BMJ

    Dr. Rita Guerreiro

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

    Article • Acta Neuropathologica Communications, November 2019, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, November 2019, Elsevier

    Dr. Rita Guerreiro

  23. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

    Article • Movement Disorders, October 2019, Wiley

    Dr. Rita Guerreiro

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

    Article • September 2019, Cold Spring Harbor Laboratory Press

    Dr. Rita Guerreiro

  25. Heritability and genetic variance of dementia with Lewy bodies

    Article • Neurobiology of Disease, July 2019, Elsevier

    Minna Oinas, Dr. Rita Guerreiro

  26. Education modulates brain maintenance in presymptomatic frontotemporal dementia

    Article • Journal of Neurology Neurosurgery & Psychiatry, June 2019, BMJ

    Dr. Rita Guerreiro

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

    Article • Translational Psychiatry, May 2019, Springer Science + Business Media

    Dr. Rita Guerreiro

  28. Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

    Article • Neurobiology of Aging, May 2019, Elsevier

    Dr. Rita Guerreiro, Dr Ricardo Taipa

  29. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    Article • npj Parkinson s Disease, April 2019, Springer Science + Business Media

    Dr. Rita Guerreiro

  30. The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint

    Article • NeuroImage, April 2019, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, March 2019, Elsevier

    Minna Oinas, Dr. Rita Guerreiro

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

    Article • Nature Genetics, February 2019, Springer Science + Business Media

    Dr. Rita Guerreiro

  33. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

    Article • Movement Disorders, January 2019, Wiley

    Dr. Rita Guerreiro

  34. 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

    Article • Journal of Alzheimer s Disease, January 2019, IOS Press

    Dr. Rita Guerreiro

  35. LRP10 in α-synucleinopathies

    Article • The Lancet Neurology, December 2018, Elsevier

    Minna Oinas, Dr. Rita Guerreiro

  36. LRP10 in α-synucleinopathies

    Article • The Lancet Neurology, December 2018, Elsevier

    Dr. Rita Guerreiro

  37. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

    Article • JAMA Neurology, November 2018, American Medical Association (AMA)

    Dr. Rita Guerreiro

  38. Heritability and genetic variance of dementia with Lewy bodies

    Article • October 2018, Cold Spring Harbor Laboratory Press

    Dr. Rita Guerreiro

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

    Article • Neuropathology and Applied Neurobiology, October 2018, Wiley

    Dr. Rita Guerreiro

  40. AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

    Article • Neurology Genetics, September 2018, Wolters Kluwer Health

    Dr. Rita Guerreiro

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

    Article • Current Neurology and Neuroscience Reports, August 2018, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, August 2018, Elsevier

    Dr. Rita Guerreiro

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

    Article • Molecular Psychiatry, July 2018, Springer Science + Business Media

    Dr. Rita Guerreiro

  44. Analysis of shared heritability in common disorders of the brain

    Article • Science, June 2018, American Association for the Advancement of Science

    Janice Fullerton, Dr. Rita Guerreiro

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

    Article • Journal of Alzheimer s Disease, June 2018, IOS Press

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, June 2018, Elsevier

    Dr. Rita Guerreiro

  47. A comprehensive assessment of benign genetic variability for neurodegenerative disorders

    Article • February 2018, Cold Spring Harbor Laboratory Press

    Dr. Rita Guerreiro

  48. Genetics of dementia in a Finnish cohort

    Article • European Journal of Human Genetics, February 2018, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, February 2018, Elsevier

    Dr. Rita Guerreiro

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

    Article • Frontiers in Aging Neuroscience, January 2018, Frontiers

    Dr Kiterie ME Faller, Dr. Rita Guerreiro

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

    Article • Neurology Genetics, January 2018, Wolters Kluwer Health

    Dr. Rita Guerreiro

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

    Article • Neuropathology and Applied Neurobiology, January 2018, Wiley

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, January 2018, Elsevier

    Minna Oinas, Dr. Rita Guerreiro

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

    Article • Cerebrovascular Diseases, January 2018, Karger Publishers

    Dr. Rita Guerreiro

  55. The genetic landscape of Alzheimer disease

    Article • January 2018, Elsevier

    Dr. Rita Guerreiro

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

    Article • Genome Medicine, November 2017, Springer Science + Business Media

    Dr. Rita Guerreiro

  57. A recessive ataxia diagnosis algorithm for the next generation sequencing era

    Article • Annals of Neurology, November 2017, Wiley

    Professor Massimo Pandolfo, Dr. Rita Guerreiro

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

    Article • Brain, November 2017, Oxford University Press (OUP)

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, October 2017, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, September 2017, Elsevier

    Dr. Rita Guerreiro

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

    Article • Nature Genetics, July 2017, Springer Science + Business Media

    Francesco Panza, Dr. Rita Guerreiro

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

    Article • Brain, March 2017, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  63. No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs

    Article • ADHD Attention Deficit and Hyperactivity Disorders, February 2017, Springer Science + Business Media

    Dr. Rita Guerreiro

  64. Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

    Article • January 2017, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, January 2017, Elsevier

    Minna Oinas, Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, January 2017, Elsevier

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, December 2016, Elsevier

    Dr. Rita Guerreiro

  68. TYROBP genetic variants in early-onset Alzheimer's disease

    Article • Neurobiology of Aging, December 2016, Elsevier

    Dr. Rita Guerreiro

  69. CLN8 disease caused by large genomic deletions

    Article • Molecular Genetics & Genomic Medicine, November 2016, Wiley

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, October 2016, Elsevier

    Dr. Rita Guerreiro

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

    Article • PLoS ONE, September 2016, PLOS

    Dr. Rita Guerreiro

  72. Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygousPTH1Rmutation

    Article • Genes Brain & Behavior, August 2016, Wiley

    Dr. Rita Guerreiro

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

    Article • PLoS ONE, June 2016, PLOS

    Dr. Rita Guerreiro

  74. Mutation ofTBCKcauses a rare recessive developmental disorder

    Article • Neurology Genetics, May 2016, Wolters Kluwer Health

    Dr. Rita Guerreiro

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

    Article • Genetics in Medicine, May 2016, Springer Science + Business Media

    Dr. Rita Guerreiro

  76. RARS2mutations in a sibship with infantile spasms

    Article • Epilepsia, April 2016, Wiley

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, April 2016, Elsevier

    Dr. Rita Guerreiro

  78. Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G 4 C 2 ) repeat expansion in  C9orf72 gene

    Article • Neurobiology of Aging, April 2016, Elsevier

    Dr. Rita Guerreiro

  79. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

    Article • The American Journal of Human Genetics, March 2016, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, March 2016, Elsevier

    Dr. Rita Guerreiro

  81. The clinical syndrome of dystonia with anarthria/aphonia

    Article • Parkinsonism & Related Disorders, March 2016, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, February 2016, Elsevier

    Dr. Rita Guerreiro

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

    Article • Journal of Neuroscience Research, January 2016, Wiley

    Dr Kiterie ME Faller, Dr. Rita Guerreiro

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

    Article • Journal of Alzheimer s Disease, October 2015, IOS Press

    Dr. Rita Guerreiro

  85. Common polygenic variation enhances risk prediction for Alzheimer’s disease

    Article • Brain, October 2015, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  86. The age factor in Alzheimer’s disease

    Article • Genome Medicine, October 2015, Springer Science + Business Media

    Dr. Rita Guerreiro

  87. A systematic screening to identifyde novomutations causing sporadic early-onset Parkinson's disease

    Article • Human Molecular Genetics, September 2015, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  88. Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

    Article • PLoS Medicine, June 2015, PLOS

    Dr. Rita Guerreiro

  89. Loss-of-function mutations inRAB39Bare associated with typical early-onset Parkinson disease

    Article • Neurology Genetics, June 2015, Wolters Kluwer Health

    Dr. Rita Guerreiro

  90. Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

    Article • Cell Reports, May 2015, Elsevier

    Dr. Rita Guerreiro

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

    Article • Molecular Psychiatry, March 2015, Springer Science + Business Media

    Francesco Panza, Dr. Rita Guerreiro

  92. Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    Article • The American Journal of Human Genetics, March 2015, Elsevier

    Jorge Sequeiros, Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, March 2015, Elsevier

    Professor Irene Litvan, Dr. Rita Guerreiro

  94. SnapShot: Genetics of ALS and FTD

    Article • Cell, February 2015, Elsevier

    Dr. Rita Guerreiro

  95. SnapShot: Genetics of Parkinson’s Disease

    Article • Cell, January 2015, Elsevier

    Dr. Rita Guerreiro

  96. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

    Article • Movement Disorders, December 2014, Wiley

    Dr. Rita Guerreiro

  97. Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

    Article • Current Genetic Medicine Reports, December 2014, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, December 2014, Elsevier

    Dr. Rita Guerreiro

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

    Article • Journal of Alzheimer s Disease, November 2014, IOS Press

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, November 2014, Elsevier

    Dr. Rita Guerreiro

  101. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

    Article • Molecular Psychiatry, October 2014, Springer Science + Business Media

    Professor Katherine L Tucker, Jari Lahti, Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, October 2014, Elsevier

    Dr. Rita Guerreiro

  103. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

    Article • Neurobiology of Aging, October 2014, Elsevier

    Dr. Rita Guerreiro

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

    Article • Alzheimer s & Dementia, August 2014, Wiley

    Dr. Rita Guerreiro

  105. Genetics of Alzheimer’s Disease

    Article • Neurotherapeutics, August 2014, Springer Science + Business Media

    Dr. Rita Guerreiro

  106. Mutant ADA2 in Vasculopathies

    Article • New England Journal of Medicine, July 2014, New England Journal of Medicine (NEJM/MMS)

    Dr. Rita Guerreiro

  107. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

    Article • Nature Genetics, July 2014, Springer Science + Business Media

    Professor Irene Litvan, Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, June 2014, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  109. Missense variant in TREML2 protects against Alzheimer's disease

    Article • Neurobiology of Aging, June 2014, Elsevier

    Dr. Rita Guerreiro

  110. Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease

    Article • Neurobiology of Aging, June 2014, Elsevier

    Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, May 2014, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  112. Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

    Article • Movement Disorders Clinical Practice, April 2014, Wiley

    Dr. Rita Guerreiro

  113. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

    Article • Proceedings of the National Academy of Sciences, February 2014, Proceedings of the National Academy of Sciences

    Dr. Rita Guerreiro

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

    Article • Nature, December 2013, Springer Science + Business Media

    Dr. Rita Guerreiro

  115. A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production

    Article • Cell Reports, December 2013, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, December 2013, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, December 2013, Elsevier

    Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, November 2013, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  119. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

    Article • European Journal of Paediatric Neurology, November 2013, Elsevier

    Dr. Rita Guerreiro

  120. SnapShot: Genetics of Alzheimer’s Disease

    Article • Cell, November 2013, Elsevier

    Dr. Rita Guerreiro

  121. TREM2and Neurodegenerative Disease

    Article • New England Journal of Medicine, October 2013, New England Journal of Medicine (NEJM/MMS)

    Dr. Rita Guerreiro

  122. NOTCH3 Variants and Risk of Ischemic Stroke

    Article • PLoS ONE, September 2013, PLOS

    Dr. Rita Guerreiro

  123. Genetic comorbidities in Parkinson's disease

    Article • Human Molecular Genetics, September 2013, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  124. SQSTM1Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

    Article • JAMA Neurology, September 2013, American Medical Association (AMA)

    Dr. Rita Guerreiro

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

    Article • Journal of the Neurological Sciences, September 2013, Elsevier

    Dr. Rita Guerreiro

  126. Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk

    Article • JAMA Neurology, August 2013, American Medical Association (AMA)

    Dr. Rita Guerreiro

  127. Genetic Analysis of Inherited Leukodystrophies

    Article • JAMA Neurology, July 2013, American Medical Association (AMA)

    Dr. Rita Guerreiro, Dr Ricardo Taipa

  128. Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study

    Article • PLoS Medicine, June 2013, PLOS

    Dr. Rita Guerreiro

  129. Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer’s Disease Pathology

    Article • PLoS ONE, May 2013, PLOS

    Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, February 2013, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  131. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

    Article • Journal of Neurology Neurosurgery & Psychiatry, February 2013, BMJ

    Dr. Rita Guerreiro

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

    Article • Annals of Human Genetics, January 2013, Wiley

    Dr. Rita Guerreiro

  133. TREM2 Variants in Alzheimer's Disease

    Article • New England Journal of Medicine, January 2013, New England Journal of Medicine (NEJM/MMS)

    Dr. Rita Guerreiro

  134. Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

    Article • JAMA Neurology, January 2013, American Medical Association (AMA)

    Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, December 2012, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  136. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk

    Article • Human Molecular Genetics, November 2012, Oxford University Press (OUP)

    Dr. Rita Guerreiro

  137. TOMM40 Association With Alzheimer Disease

    Article • Archives of Neurology, October 2012, American Medical Association (AMA)

    Dr. Rita Guerreiro

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

    Article • Human Molecular Genetics, August 2012, Oxford University Press (OUP)

    Dr. Rita Guerreiro, Professor Janusz Antoni Jankowski

  139. Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities

    Article • Human Mutation, August 2012, Wiley

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, August 2012, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, July 2012, Elsevier

    Dr. Rita Guerreiro

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

    Article • Nature Reviews Neuroscience, June 2012, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, May 2012, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, April 2012, Elsevier

    Dr. Rita Guerreiro

  145. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

    Article • The Lancet Neurology, April 2012, Elsevier

    Dr Janine Kirby, Dr. Rita Guerreiro

  146. Screening for VPS35 mutations in Parkinson's disease

    Article • Neurobiology of Aging, April 2012, Elsevier

    Dr. Rita Guerreiro

  147. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

    Article • Human Molecular Genetics, March 2012, Oxford University Press (OUP)

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, March 2012, Elsevier

    Dr. Rita Guerreiro

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

    Article • PLoS ONE, February 2012, PLOS

    Dr. Rita Guerreiro

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

    Article • Immunobiology, February 2012, Elsevier

    Dr. Rita Guerreiro

  151. 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

    Article • Neurobiology of Aging, February 2012, Elsevier

    Dr. Rita Guerreiro

  152. The Role of Variation at AβPP, PSEN1, PSEN2, and MAPT in Late Onset Alzheimer's Disease

    Article • Journal of Alzheimer s Disease, January 2012, IOS Press

    Dr. Rita Guerreiro

  153. Clusterin as an Alzheimer Biomarker

    Article • Archives of Neurology, November 2011, American Medical Association (AMA)

    Dr. Rita Guerreiro

  154. Genome-wide association study of Alzheimer's disease with psychotic symptoms

    Article • Molecular Psychiatry, October 2011, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neuron, October 2011, Elsevier

    Dr. Rita Guerreiro

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

    Article • Biochemical Society Transactions, July 2011, Portland Press Ltd.

    Dr. Rita Guerreiro

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

    Article • PLoS Genetics, June 2011, PLOS

    Dr. Rita Guerreiro

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

    Article • EMBO Molecular Medicine, April 2011, EMBO

    Dr. Rita Guerreiro

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

    Article • Nature Genetics, April 2011, Springer Science + Business Media

    Francesco Panza, Dr. Rita Guerreiro

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

    Article • PLoS ONE, February 2011, PLOS

    Dr. Rita Guerreiro

  161. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

    Article • The Lancet, February 2011, Elsevier

    Dr. Rita Guerreiro

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

    Article • PLoS ONE, November 2010, PLOS

    Dr. Rita Guerreiro

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

    Article • Journal of Neurology, November 2010, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Human Mutation, May 2010, Wiley

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, May 2010, Elsevier

    Jordi Clarimon, Dr. Rita Guerreiro

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

    Article • PLoS ONE, March 2010, PLOS

    Dr. Rita Guerreiro

  167. A thorough assessment of benign genetic variability inGRNandMAPT

    Article • Human Mutation, February 2010, Wiley

    Dr. Rita Guerreiro

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

    Article • Alzheimer Disease & Associated Disorders, October 2009, Wolters Kluwer Health

    Dr. Rita Guerreiro

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

    Article • Nature Genetics, September 2009, Nature

    Dr. Rita Guerreiro

  170. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

    Article • Neurobiology of Aging, September 2009, Elsevier

    Dr. Rita Guerreiro

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

    Article • Neurobiology of Aging, April 2009, Elsevier

    Dr. Rita Guerreiro

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

    Article • Brain, March 2009, Oxford University Press (OUP)

    Dr. Rita Guerreiro

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

    Article • PLoS ONE, June 2008, PLOS

    Dr. Rita Guerreiro

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

    Article • Movement Disorders, May 2008, Wiley

    Dr. Rita Guerreiro

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

    Article • The Lancet Neurology, March 2008, Elsevier

    Dr. Rita Guerreiro

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

    Article • Nature, February 2008, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • BMC Neurology, January 2008, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Neurodegenerative Diseases, January 2007, Karger Publishers

    Dr. Rita Guerreiro

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

    Article • BMC Neurology, July 2006, Springer Science + Business Media

    Dr. Rita Guerreiro

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

    Article • Movement Disorders, September 2005, Wiley

    Dr. Rita Guerreiro