Publications
Information about journal articles, updated at 06-09-2026, from platform CIÊNCIAVITAE.
Maternal Longevity is Associated With Reduced Risk but an Earlier Onset of Alzheimer’s Disease in Offspring
Miguel Tábuas-Pereira; Francisco Mano; Catarina Bernardes; João Durães; Marisa Lima; Kaitlyn DenHaan; Kimberly Paquette; et al, Journal of Geriatric Psychiatry and Neurology. 2026. https://doi.org/10.1177/08919887261424534 . 10.1177/08919887261424534 . Journal of Geriatric Psychiatry and Neurology
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration.
De Houwer JFH; Dopper EG; van Buuren R; Stokkel M; de Boer L; Swartenbroekx T; Boesjes PA; et al, Brain : a journal of neurology. 2026. http://europepmc.org/abstract/med/41343108 . 10.1093/brain/awaf457 . Brain : a journal of neurology
Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia.
Tsvetanov KA; Malpetti M; Jones PS; Rittman T; Whiteside DJ; Murley AG; Bethlehem R; et al, Brain : a journal of neurology. 2026. http://europepmc.org/abstract/med/41277710 . 10.1093/brain/awaf443 . Brain : a journal of neurology
Composite grey matter fingerprints for genetic frontotemporal dementia.
Bouzigues A; Campana G; Joulot M; Gensollen N; Russell LL; Foster PH; Ferry-Bolder E; et al, Journal of neurology, neurosurgery, and psychiatry. 2026. http://europepmc.org/abstract/med/41679970 . 10.1136/jnnp-2025-337186 . Journal of neurology, neurosurgery, and psychiatry
Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia.
Premi E; Archetti D; Redolfi A; Bracca V; Cantoni V; Iraji A; Calhoun VD; et al, Brain communications. 2026. http://europepmc.org/abstract/med/42553777 . 10.1093/braincomms/fcag262 . Brain communications
Levels and instability of transthyretin and correlations with core biomarkers in Alzheimer's disease.
Gião T; Tábuas-Pereira M; Baldeiras I; Saavedra J; Dias A; Saraiva MJ; Almeida MR; Santana I; Cardoso I, Scientific reports. 2026. http://europepmc.org/abstract/med/41820479 . 10.1038/s41598-026-41717-7 . Scientific reports
Plasma p-tau217, quantified by the fully automated LUMIPULSE G platform, outperforms p-tau181 in predicting amyloid pathology in cognitive complaints patients.
Silva-Spínola A; Durães J; de Oliveira JPG; Tábuas-Pereira M; Lima M; de Mendonça A; Santana I; Baldeiras I, Scientific reports. 2026. http://europepmc.org/abstract/med/41535718 . 10.1038/s41598-025-34241-7 . Scientific reports
Survival estimates and their predictors in genetic frontotemporal dementia: an international, retrospective, cohort study.
Bouzigues A; Grassi M; Cantoni V; Premi E; Bellini S; Binetti G; Logroscino G; et al, The Lancet. Neurology. 2026. http://europepmc.org/abstract/med/42456683 . 10.1016/s1474-4422(26)00197-3 . The Lancet. Neurology
Spastic paraparesis linked to a rare presenilin-1 mutation.
Teles C; Durães J; Faustino P; Baldeiras I; Gens H; Pereira MT; Almeida MR; Santana I, Neurogenetics. 2026. http://europepmc.org/abstract/med/42113316 . 10.1007/s10048-026-00908-0 . Neurogenetics
Peripheral microRNA signature in genetic frontotemporal dementia-findings from the GENFI initiative.
Fenoglio C; Serpente M; Arcaro M; Carandini T; Sacchi L; Pintus M; Borracci V; et al, GeroScience. 2026. http://europepmc.org/abstract/med/41963707 . 10.1007/s11357-026-02214-x . GeroScience
Photophobia discriminates between Alzheimer's disease and dementia with Lewy bodies patients
EUROPEAN JOURNAL OF NEUROLOGY. 2025. EUROPEAN JOURNAL OF NEUROLOGY
Dysautonomia Is Associated with Cognitive Fluctuation in Dementia with Lewy Bodies
Durães, João; Tábuas-Pereira, Miguel; Bernardes, Catarina; Lima, Marisa; Cavadas, Cláudia; Santana, Isabel, Movement Disorders. 768 - 769. 4. 40. 2025. https://doi.org/10.1002/mds.30156 . 10.1002/mds.30156 . Movement Disorders
Health literacy of family caregivers of older adults with dementia due to Alzheimer’s
Fabianne de Jesus Dias de Sousa; Sofia do Vale Pereira; Catarina Resende de Oliveira; Isabel Costa; Barbara Oliveiros; Miguel Tábuas Pereira; João Durães; et al, Revista Enfermagem UERJ. 2025. https://doi.org/10.12957/reuerj.2025.91168 . 10.12957/reuerj.2025.91168 . Revista Enfermagem UERJ
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study.
Soskic S; Tregidgo HFJ; Todd EG; Bouzigues A; Cash DM; Russell LL; Thomas DL; et al, Brain communications. 2025. http://europepmc.org/abstract/med/41245435 . 10.1093/braincomms/fcaf420 . Brain communications
Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan.
Planche V; Mansencal B; Fonov V; Manjon JV; Tourdias T; Bouzigues A; Russell LL; et al, Brain : a journal of neurology. 2025. http://europepmc.org/abstract/med/40424598 . 10.1093/brain/awaf195 . Brain : a journal of neurology
International consensus for the assessment of social cognition in neurocognitive disorders: framework definition and clinical recommendations of the SIGNATURE initiative.
Dodich A; Panzavolta A; Funghi G; Meli C; Festari C; Chatzikostopoulos T; Chicherio C; et al, Alzheimer's research & therapy. 2025. http://europepmc.org/abstract/med/41350737 . 10.1186/s13195-025-01908-2 . Alzheimer's research & therapy
Development of a diagnostic checklist to identify functional cognitive disorder versus other neurocognitive disorders.
Cabreira V; Alty J; Antic S; Araujo R; Aybek S; Ball HA; Baslet G; et al, BMJ neurology open. 2025. http://europepmc.org/abstract/med/40034653 . 10.1136/bmjno-2024-000918 . BMJ neurology open
Understanding barriers and optimizing socio-cognitive assessment in the diagnosis of neurocognitive disorders.
Cerami C; Boccardi M; Meli C; Panzavolta A; Funghi G; Festari C; Cappa SF; et al, Journal of neuropsychology. 2025. http://europepmc.org/abstract/med/40365933 . 10.1111/jnp.12431 . Journal of neuropsychology
Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.
Tábuas-Pereira M; Brás J; Taipa R; Del Tredici K; Paquette K; Chaudhry S; DenHaan K; et al, Scientific reports. 2025. http://europepmc.org/abstract/med/40185916 . 10.1038/s41598-025-95183-8 . Scientific reports
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.
Russell LL; Bouzigues A; Convery RS; Foster PH; Ferry-Bolder E; Cash DM; Van Swieten JC; et al, Neurology. Genetics. 2025. http://europepmc.org/abstract/med/40703202 . 10.1212/nxg.0000000000200248 . Neurology. Genetics
Disagreement between self- and informant-reported memory complaints and progression of mild cognitive impairment to dementia.
Regueira P; Baldeiras I; Lima M; Tábuas-Pereira M; Duro D; Silva-Spínola A; Cerejeira J; Santana I, Aging & mental health. 2025. http://europepmc.org/abstract/med/40857141 . 10.1080/13607863.2025.2552425 . Aging & mental health
Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study.
Mirza SS; Pasternak M; Paterson AD; Rogaeva E; Tartaglia MC; Mitchell SB; Black SE; et al, Brain : a journal of neurology. 2025. http://europepmc.org/abstract/med/40260680 . 10.1093/brain/awaf019 . Brain : a journal of neurology
Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia.
Kancheva IK; Bouzigues A; Russell LL; Foster PH; Ferry-Bolder E; Van Swieten JC; Jiskoot LC; et al, Neurology. 2025. http://europepmc.org/abstract/med/40906975 . 10.1212/wnl.0000000000213677 . Neurology
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes.
Sogorb-Esteve A; Weiner S; Simrén J; Swift IJ; Bocchetta M; Todd EG; Cash DM; et al, Science translational medicine. 2025. http://europepmc.org/abstract/med/39908349 . 10.1126/scitranslmed.adm9654 . Science translational medicine
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia.
Borrego-Ecija S; Juncà-Parella J; Vandebergh M; Pérez Millan A; Balasa M; Llado A; Bouzigues A; et al, Neurology. 2024. http://europepmc.org/abstract/med/39527772 . 10.1212/wnl.0000000000209944 . Neurology
Undiagnosed major risk factors in acute ischaemic stroke patients: frequency, profile, stroke mechanisms and outcome
EUROPEAN JOURNAL OF NEUROLOGY. 2024. 10.1111/ENE.16011 . EUROPEAN JOURNAL OF NEUROLOGY
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M; Mirza SS; Luciw N; Mutsaerts HJMM; Petr J; Thomas D; Cash D; et al, Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024. http://europepmc.org/abstract/med/38623902 . 10.1002/alz.13750 . Alzheimer's & dementia : the journal of the Alzheimer's Association
Perspectives on the diagnosis and management of functional cognitive disorder: An international Delphi study.
Cabreira V; Alty J; Antic S; Araújo R; Aybek S; Ball HA; Baslet G; et al, European journal of neurology. 2024. http://europepmc.org/abstract/med/38700361 . 10.1111/ene.16318 . European journal of neurology
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K; Peakman G; MacDougall AM; Bouzigues A; Greaves CV; Convery RS; van Swieten JC; et al, Alzheimer's & dementia (Amsterdam, Netherlands). 2024. http://europepmc.org/abstract/med/38623386 . 10.1002/dad2.12571 . Alzheimer's & dementia (Amsterdam, Netherlands)
SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia
Tábuas-Pereira, Miguel; Lima, Marisa; Bernardes, Catarina; Durães, João; Duro, Diana; Baldeiras, Ines; Freire-Gonçalves, António; et al, Parkinsonism & Related Disorders. 2024. http://dx.doi.org/10.1016/j.parkreldis.2024.106069 . 10.1016/j.parkreldis.2024.106069 . published Parkinsonism & Related Disorders
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
Linnemann C; Wilke C; Mengel D; Zetterberg H; Heller C; Kuhle J; Bouzigues A; et al, Journal of neurology, neurosurgery, and psychiatry. 2024. http://europepmc.org/abstract/med/38253362 . 10.1136/jnnp-2023-332464 . Journal of neurology, neurosurgery, and psychiatry
Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study.
Premi E; Diano M; Mattioli I; Altomare D; Cantoni V; Bocchetta M; Gasparotti R; et al, Brain communications. 2024. http://europepmc.org/abstract/med/39015769 . 10.1093/braincomms/fcae185 . Brain communications
Exploring first-degree family history in a cohort of Portuguese Alzheimer’s disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors
Miguel Tábuas-Pereira; Catarina Bernardes; João Durães; Marisa Lima; Ana Rita Nogueira; Jorge Saraiva; Teresa Tábuas; et al, Journal of Neurology. 2024. https://doi.org/10.1007/s00415-024-12673-x . 10.1007/s00415-024-12673-x . Journal of Neurology
Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.
Schönecker S; Martinez-Murcia FJ; Denecke J; Franzmeier N; Danek A; Wagemann O; Prix C; et al, Neurology. 2024. http://europepmc.org/abstract/med/39284109 . 10.1212/wnl.0000000000209569 . Neurology
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
Benussi A; Premi E; Grassi M; Alberici A; Cantoni V; Gazzina S; Archetti S; et al, Alzheimer's research & therapy. 2024. http://europepmc.org/abstract/med/38216961 . 10.1186/s13195-024-01383-1 . Alzheimer's research & therapy
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ; Rademakers R; Finch N; Baker M; Ghidoni R; Benussi L; Binetti G; et al, Alzheimer's research & therapy. 2024. http://europepmc.org/abstract/med/38539243 . 10.1186/s13195-024-01420-z . Alzheimer's research & therapy
Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.
Serpente M; Fenoglio C; Arcaro M; Carandini T; Sacchi L; Pintus M; Rotondo E; et al, Journal of Alzheimer's disease : JAD. 2024. http://europepmc.org/abstract/med/39121124 . 10.3233/jad-240557 . Journal of Alzheimer's disease : JAD
Progress in the Treatment of Alzheimer's Disease Is Needed - Position Statement of European Alzheimer's Disease Consortium (EADC) Investigators.
Jessen F; Kramberger MG; Angioni D; Aarsland D; Balasa M; Bennys K; Boada M; et al, The journal of prevention of Alzheimer's disease. 2024. http://europepmc.org/abstract/med/39350366 . 10.14283/jpad.2024.153 . The journal of prevention of Alzheimer's disease
Language impairment in the genetic forms of behavioural variant frontotemporal dementia
Kiran Samra; Amy M. MacDougall; Arabella Bouzigues; Martina Bocchetta; David M. Cash; Caroline V. Greaves; Rhian S. Convery; et al, Journal of Neurology. 2023. http://dx.doi.org/10.1007/s00415-022-11512-1 . 10.1007/s00415-022-11512-1 . Journal of Neurology
Montreal cognitive assessment in mild cognitive impairment: relationship with CSF biomarkers and conversion to dementia
Bernardes, Catarina; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Durães, João; Tábuas-Pereira, Miguel; Baldeiras, Ines; Freitas, Sandra; Santana, Isabel, Journal of Alzheimer's Disease. 2023. accepted Journal of Alzheimer's Disease
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia
David J. Whiteside; Maura Malpetti; P. Simon Jones; Boyd C. P. Ghosh; Ian Coyle-Gilchrist; John C. van Swieten; Harro Seelaar; et al, Alzheimer's & Dementia. 2023. http://dx.doi.org/10.1002/alz.12824 . 10.1002/alz.12824 . Alzheimer's & Dementia
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales
Kiran Samra; Amy M. MacDougall; Georgia Peakman; Arabella Bouzigues; Martina Bocchetta; David M. Cash; Caroline V. Greaves; et al, Journal of Neurology. 2023. http://dx.doi.org/10.1007/s00415-022-11442-y . 10.1007/s00415-022-11442-y . Journal of Neurology
Reconsidering the role of blood-brain barrier in Alzheimer’s disease: From delivery to target
João André Sousa; Catarina Bernardes; Sara Bernardo-Castro; Miguel Lino; Inês Albino; Lino Ferreira; José Brás; et al, Frontiers in Aging Neuroscience. 2023. http://dx.doi.org/10.3389/fnagi.2023.1102809 . 10.3389/fnagi.2023.1102809 . Frontiers in Aging Neuroscience
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
Agnès Pérez-Millan; Sergi Borrego-Écija; John C. van Swieten; Lize Jiskoot; Fermin Moreno; Robert Laforce; Caroline Graff; et al, Journal of Neurology. 2023. http://dx.doi.org/10.1007/s00415-022-11435-x . 10.1007/s00415-022-11435-x . Journal of Neurology
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers
Elizabeth Finger; Rubina Malik; Martina Bocchetta; Kristy Coleman; Caroline Graff; barbara borroni; Mario Masellis; et al, Brain. 2023. http://dx.doi.org/10.1093/brain/awac446 . 10.1093/brain/awac446 . Brain
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
Aurelie Bussy; Jake P. Levy; Tristin Best; Raihaan Patel; Lani Cupo; Tim Van Langenhove; Jørgen Erik Nielsen; et al, Human Brain Mapping. 2023. http://dx.doi.org/10.1002/hbm.26220 . 10.1002/hbm.26220 . Human Brain Mapping
Serum Neurofilament Light Chain in the Diagnostic Evaluation of Patients with Cognitive Symptoms in the Neurological Consultation of a Tertiary Center
Pedro Lopes das Neves; João Durães; Anuschka Silva-Spinola; Marisa Lima; Maria João Leitão; Miguel Tábuas-Pereira; Isabel Santana; Inês Baldeiras, Journal of Alzheimer's Disease. 2023. http://dx.doi.org/10.3233/jad-221208 . 10.3233/jad-221208 . Journal of Alzheimer's Disease
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study
Enrico Premi; Marta Pengo; Irene Mattioli; Valentina Cantoni; Juergen Dukart; Roberto Gasparotti; Emanuele Buratti; et al, Neurobiology of Disease. 2023. http://dx.doi.org/10.1016/j.nbd.2023.106068 . 10.1016/j.nbd.2023.106068 . Neurobiology of Disease
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort
Kiran Samra; Amy M. MacDougall; Arabella Bouzigues; Martina Bocchetta; David M. Cash; Caroline V. Greaves; Rhian S. Convery; et al, Journal of the Neurological Sciences. 2023. http://dx.doi.org/10.1016/j.jns.2023.120711 . 10.1016/j.jns.2023.120711 . Journal of the Neurological Sciences
Neuropsychological Assessment in the Distinction Between Biomarker Defined Frontal-Variant of Alzheimer’s Disease and Behavioral-Variant of Frontotemporal Dementia
Marisa Lima; Miguel Tábuas-Pereira; João Durães; Daniela Vieira; Pedro Faustino; Inês Baldeiras; Isabel Santana, Journal of Alzheimer's Disease. 2023. http://dx.doi.org/10.3233/jad-220897 . 10.3233/jad-220897 . Journal of Alzheimer's Disease
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
Kiran Samra; Amy Macdougall; Georgia Peakman; Arabella Bouzigues; Martina Bocchetta; David M Cash; Caroline V Greaves; et al, Journal of Neurology, Neurosurgery & Psychiatry. 2023. http://dx.doi.org/10.1136/jnnp-2022-330152 . 10.1136/jnnp-2022-330152 . Journal of Neurology, Neurosurgery & Psychiatry
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.
Shafiei G; Bazinet V; Dadar M; Manera AL; Collins DL; Dagher A; Borroni B; et al, Brain : a journal of neurology. 2023. http://europepmc.org/abstract/med/35188955 . 10.1093/brain/awac069 . Brain : a journal of neurology
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
Samra K; MacDougall AM; Bouzigues A; Bocchetta M; Cash DM; Greaves CV; Convery RS; et al, Brain communications. 2023. http://europepmc.org/abstract/med/36938528 . 10.1093/braincomms/fcad036 . Brain communications
Dysautonomia in the differential diagnosis of Dementia with Lewy Bodies and Alzheimer's Disease
EUROPEAN JOURNAL OF NEUROLOGY. 2023. EUROPEAN JOURNAL OF NEUROLOGY
Establishment of a biomarker-based cohort for innovative therapeutic strategies in Alzheimer's disease
JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023. 10.1016/J.JNS.2023.121451 . JOURNAL OF THE NEUROLOGICAL SCIENCES
Associations between self-reported sleep quality and cerebrospinal fluid biomarkers in mild cognitive impairment and Alzheimer's disease
J. Durães; P. Marques; A.M. Novo; J. Facas; D. Duro; M. Lima; M.J. Leitão; et al, Revue Neurologique. 2023. http://dx.doi.org/10.1016/j.neurol.2022.12.009 . 10.1016/j.neurol.2022.12.009 . Revue Neurologique
Altered plasma protein profiles in genetic FTD – a GENFI study
Abbe Ullgren; Linn Öijerstedt; Jennie Olofsson; Sofia Bergström; Julia Remnestål; John C. van Swieten; Lize C. Jiskoot; et al, Molecular Neurodegeneration. 2023. http://dx.doi.org/10.1186/s13024-023-00677-6 . 10.1186/s13024-023-00677-6 . Molecular Neurodegeneration
Two Phase 3 Trials of Gantenerumab in Early Alzheimer’s Disease
Randall J. Bateman; Janice Smith; Michael C. Donohue; Paul Delmar; Rachid Abbas; Stephen Salloway; Jakub Wojtowicz; et al, New England Journal of Medicine. 2023. http://dx.doi.org/10.1056/nejmoa2304430 . 10.1056/nejmoa2304430 . New England Journal of Medicine
Montreal Cognitive Assessment in Mild Cognitive Impairment: Relationship with Cerebrospinal Fluid Biomarkers and Conversion to Dementia
Catarina Bernardes; Marisa Lima; Diana Duro; Anuschka Silva-Spínola; João Durães; Miguel Tábuas-Pereira; Inês Baldeiras; Sandra Freitas; Isabel Santana, Journal of Alzheimer's Disease. 2023. http://dx.doi.org/10.3233/jad-230916 . 10.3233/jad-230916 . Journal of Alzheimer's Disease
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia
Maria Rosário Almeida; Miguel Tábuas-Pereira; Inês Baldeiras; Marisa Lima; João Durães; João Massano; Madalena Pinto; Catarina Cruto; Isabel Santana, International Journal of Molecular Sciences. 2023. https://www.mdpi.com/1422-0067/25/1/511 . 10.3390/ijms25010511 . International Journal of Molecular Sciences
Blood biomarkers in mild cognitive impairment patients: Relationship between analytes and progression to Alzheimer disease dementia
Anuschka Silva-Spinola; Marisa Lima; Maria João Leitão; Catarina Bernardes; João Durães; Diana Duro; Miguel Tábuas-Pereira; Isabel Santana; Inês Baldeiras, European Journal of Neurology. 2023. http://dx.doi.org/10.1111/ene.15762 . 10.1111/ene.15762 . European Journal of Neurology
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort
Martina Bocchetta; Emily G Todd; Arabella Bouzigues; David Cash; Jennifer M Nicholas; Rhian S Convery; Lucy L Russell; et al, Brain Communications. 2023. http://dx.doi.org/10.1093/braincomms/fcad061 . 10.1093/braincomms/fcad061 . Brain Communications
Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum
Tábuas-Pereira, Miguel; Santana, Isabel; Gibbons, Elizabeth; Paquette, Kimberly; Almeida, Maria Rosário; Baldeiras, Ines; Bras, Jose; Guerreiro, Rita, Frontiers in Neurology. 13. 2022. http://dx.doi.org/10.3389/fneur.2022.886379 . 10.3389/fneur.2022.886379 . Frontiers in Neurology
Rare variants in <i>TP73</i> in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes
EUROPEAN JOURNAL OF NEUROLOGY. 2022. 10.1111/ENE.15248 . EUROPEAN JOURNAL OF NEUROLOGY
Development of seizures reduces survival in patients with Alzheimer's Disease
EUROPEAN JOURNAL OF NEUROLOGY. 2022. EUROPEAN JOURNAL OF NEUROLOGY
Progranulin peripheral levels: a reliable screening test to identify patients with progranulin mutations
EUROPEAN JOURNAL OF NEUROLOGY. 2022. EUROPEAN JOURNAL OF NEUROLOGY
Lewy body dementia is associated with an increased risk of atrial fibrillation: A case-control study.
Tábuas-Pereira M; Durães J; Beato-Coelho J; Rita Nogueira A; Duro D; Baldeiras I; Santana I, Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2022. http://europepmc.org/abstract/med/35255358 . 10.1016/j.jocn.2022.02.038 . Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Utility of asymmetric temporal lobe atrophy on the diagnosis of Frontotemporal Lobar Degeneration
EUROPEAN JOURNAL OF NEUROLOGY. 2022. EUROPEAN JOURNAL OF NEUROLOGY
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
Aitana Sogorb-Esteve; Johanna Nilsson; Imogen J. Swift; Carolin Heller; Martina Bocchetta; Lucy L. Russell; Georgia Peakman; et al, Alzheimer's Research & Therapy. 2022. http://dx.doi.org/10.1186/s13195-022-01042-3 . 10.1186/s13195-022-01042-3 . Alzheimer's Research & Therapy
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study
Emma L. van der Ende; Carolin Heller; Aitana Sogorb-Esteve; Imogen J. Swift; David McFall; Georgia Peakman; Arabella Bouzigues; et al, Journal of Neuroinflammation. 2022. http://dx.doi.org/10.1186/s12974-022-02573-0 . 10.1186/s12974-022-02573-0 . Journal of Neuroinflammation
The <scp>CBI-R</scp> detects early behavioural impairment in genetic frontotemporal dementia
Annabel Nelson; Lucy Russell; Georgia Peakman; Rhian S. Convery; Arabella Bouzigues; Caroline V. Greaves; Martina Bocchetta; et al, Annals of Clinical and Translational Neurology. 2022. http://dx.doi.org/10.1002/acn3.51544 . 10.1002/acn3.51544 . Annals of Clinical and Translational Neurology
Portuguese version of the CDR plus NACC FTLD: Validation studies
Marisa Lima; Miguel Tábuas-Pereira; João Durães; Pedro Faustino; Mário R. Simões; Walter Kukull; David S. Knopman; Isabel Santana, Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 2022. http://dx.doi.org/10.1002/dad2.12355 . 10.1002/dad2.12355 . Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Adam Staffaroni; Melanie Quintana; Barbara Wendelberger; Hilary W. Heuer; Lucy Russell; Yann Cobigo; Amy Wolf; et al, Nature Medicine. 2022. http://dx.doi.org/10.1038/s41591-022-01942-9 . 10.1038/s41591-022-01942-9 . Nature Medicine
Alzheimer’s Disease Diagnosis Based on the Amyloid, Tau, and Neurodegeneration Scheme (ATN) in a Real-Life Multicenter Cohort of General Neurological Centers
Inês Baldeiras; Anuschka Silva-Spínola; Marisa Lima; Maria João Leitão; João Durães; Daniela Vieira; Miguel Tábuas-Pereira; et al, Journal of Alzheimer's Disease. 2022. http://dx.doi.org/10.3233/jad-220587 . 10.3233/jad-220587 . Journal of Alzheimer's Disease
<scp>CSF</scp> glial markers are elevated in a subset of patients with genetic frontotemporal dementia
Ione O. C. Woollacott; Imogen J. Swift; Aitana Sogorb-Esteve; Carolin Heller; Kathryn Knowles; Arabella Bouzigues; Lucy Russell; et al, Annals of Clinical and Translational Neurology. 2022. http://dx.doi.org/10.1002/acn3.51672 . 10.1002/acn3.51672 . Annals of Clinical and Translational Neurology
Corrigendum to “Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study” [Neurobiology of Aging Volume 108, December 2021, Pages 155–167]
Enrico Premi; Marcello Giunta; Armin Iraji; Srinivas Rachakonda; VinceD. Calhoun; Stefano Gazzina; Alberto Benussi; et al, Neurobiology of Aging. 2022. http://dx.doi.org/10.1016/j.neurobiolaging.2022.08.005 . 10.1016/j.neurobiolaging.2022.08.005 . Neurobiology of Aging
Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes
Tábuas-Pereira, Miguel; Santana, Isabel; Almeida, Maria Rosário; Durães, João; Lima, Marisa; Duro, Diana; Kun-Rodrigues, Célia; Bras, Jose; Guerreiro, Rita, European Journal of Neurology. 2022. http://dx.doi.org/10.1111/ene.15248 . 10.1111/ene.15248 . European Journal of Neurology
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog
Poos, Jackie M.; Moore, Katrina M.; Nicholas, Jennifer; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Jiskoot, Lize C.; et al, Alzheimer's Research & Therapy. 1. 14. 2022. http://dx.doi.org/10.1186/s13195-022-00958-0 . 10.1186/s13195-022-00958-0 . Alzheimer's Research & Therapy
An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers
Premi, Enrico; Costa, Tommaso; Gazzina, Stefano; Benussi, Alberto; Cauda, Franco; Gasparotti, Roberto; Archetti, Silvana; et al, Journal of Alzheimer's Disease. 205 - 218. 1. 86. 2022. http://dx.doi.org/10.3233/jad-215447 . 10.3233/jad-215447 . Journal of Alzheimer's Disease
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
Miguel Tábuas-Pereira; Rita Guerreiro; Celia Kun-Rodrigues; Maria Almeida; Jose Bras; Isabel Santana, neurogenetics. 2022. http://dx.doi.org/10.1007/s10048-022-00699-0 . 10.1007/s10048-022-00699-0 . neurogenetics
Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia
EUROPEAN JOURNAL OF NEUROLOGY. 2022. 10.1111/ENE.15058 . EUROPEAN JOURNAL OF NEUROLOGY
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
Gazzina S; Grassi M; Premi E; Alberici A; Benussi A; Archetti S; Gasparotti R; et al, Neurobiology of aging. 2022. http://europepmc.org/abstract/med/35339292 . 10.1016/j.neurobiolaging.2022.02.009 . Neurobiology of aging
Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of <i>C9orf72</i>.
Bruffaerts R; Gors D; Bárcenas Gallardo A; Vandenbulcke M; Van Damme P; Suetens P; van Swieten JC; et al, Brain communications. 2022. http://europepmc.org/abstract/med/35898720 . 10.1093/braincomms/fcac182 . Brain communications
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.
Poos JM; MacDougall A; van den Berg E; Jiskoot LC; Papma JM; van der Ende EL; Seelaar H; et al, Neurology. 2022. http://europepmc.org/abstract/med/35483895 . 10.1212/wnl.0000000000200384 . Neurology
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.
van der Ende EL; Bron EE; Poos JM; Jiskoot LC; Panman JL; Papma JM; Meeter LH; et al, Brain : a journal of neurology. 2022. http://europepmc.org/abstract/med/34633446 . 10.1093/brain/awab382 . Brain : a journal of neurology
Data-driven staging of genetic frontotemporal dementia using multi-modal MRI.
McCarthy J; Borroni B; Sanchez-Valle R; Moreno F; Laforce R; Graff C; Synofzik M; et al, Human brain mapping. 2022. http://europepmc.org/abstract/med/35118777 . 10.1002/hbm.25727 . Human brain mapping
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.
Foster PH; Russell LL; Peakman G; Convery RS; Bouzigues A; Greaves CV; Bocchetta M; et al, Cortex; a journal devoted to the study of the nervous system and behavior. 2022. http://europepmc.org/abstract/med/35325762 . 10.1016/j.cortex.2022.01.012 . Cortex; a journal devoted to the study of the nervous system and behavior
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for <i>C9orf72</i>-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Wilson KM; Katona E; Glaria I; Carcolé M; Swift IJ; Sogorb-Esteve A; Heller C; et al, Journal of neurology, neurosurgery, and psychiatry. 2022. http://europepmc.org/abstract/med/35379698 . 10.1136/jnnp-2021-328710 . Journal of neurology, neurosurgery, and psychiatry
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
Bouzigues A; Russell LL; Peakman G; Bocchetta M; Greaves CV; Convery RS; Todd E; et al, Journal of neurology. 2022. http://europepmc.org/abstract/med/35348856 . 10.1007/s00415-022-11068-0 . Journal of neurology
A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort
APPLIED NEUROPSYCHOLOGY-ADULT. 2022. 10.1080/23279095.2020.1716357 . APPLIED NEUROPSYCHOLOGY-ADULT
Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia.
Schönecker S; Martinez-Murcia FJ; Rauchmann BS; Franzmeier N; Prix C; Wlasich E; Loosli SV; et al, Neurology. 2022. http://europepmc.org/abstract/med/35948443 . 10.1212/wnl.0000000000200828 . Neurology
MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia
Manera, Ana L; Dadar, Mahsa; Van Swieten, John Cornelis; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce Jr, Robert; et al, Journal of Neurology, Neurosurgery & Psychiatry. 608 - 616. 6. 92. 2021. http://dx.doi.org/10.1136/jnnp-2020-324106 . 10.1136/jnnp-2020-324106 . Journal of Neurology, Neurosurgery & Psychiatry
Differential early subcortical involvement in genetic FTD within the GENFI cohort
Bocchetta, Martina; Todd, Emily G.; Peakman, Georgia; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; et al, NeuroImage: Clinical. 30. 2021. http://dx.doi.org/10.1016/j.nicl.2021.102646 . 10.1016/j.nicl.2021.102646 . NeuroImage: Clinical
Toulouse-Piéron Cancellation Test: Normative scores for the portuguese population
Lima, Marisa; Baeta, Élia; Duro, Diana; Tábuas-Pereira, Miguel; Valério, Daniela; Freitas, Sandra; Simões, Mário R.; Santana, Isabel, Applied Neuropsychology: Adult. 1 - 7. 2021. http://dx.doi.org/10.1080/23279095.2021.1918694 . 10.1080/23279095.2021.1918694 . Applied Neuropsychology: Adult
Apolipoprotein E genotype does not influence the risk of symptomatic hemorrhage in acute ischemic stroke
Tábuas-Pereira, Miguel; Galego, Orlando; Almeida, Maria Rosário; Tomás, José; Félix-Morais, Ricardo; Silva, Fernando; Rodrigues, Bruno; Cordeiro, Gustavo; Sargento-Freitas, João, Journal of Clinical Neuroscience. 34 - 38. 88. 2021. http://dx.doi.org/10.1016/j.jocn.2021.03.014 . 10.1016/j.jocn.2021.03.014 . Journal of Clinical Neuroscience
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort
Franklin, Hannah D.; Russell, Lucy L.; Peakman, Georgia; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Poos, Jackie; et al, Alzheimer's Research & Therapy. 1. 13. 2021. http://dx.doi.org/10.1186/s13195-021-00865-w . 10.1186/s13195-021-00865-w . Alzheimer's Research & Therapy
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort
Peakman, Georgia; Russell, Lucy L; Convery, Rhian S; Nicholas, Jennifer M; Van Swieten, John C; Jiskoot, Lize C; Moreno, Fermin; et al, Journal of Neurology, Neurosurgery & Psychiatry. 158 - 168. 2. 93. 2021. http://dx.doi.org/10.1136/jnnp-2021-326868 . 10.1136/jnnp-2021-326868 . Journal of Neurology, Neurosurgery & Psychiatry
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study
Bergström, Sofia; Öijerstedt, Linn; Remnestål, Julia; Olofsson, Jennie; Ullgren, Abbe; Seelaar, Harro; van Swieten, John C.; et al, Molecular Neurodegeneration. 1. 16. 2021. http://dx.doi.org/10.1186/s13024-021-00499-4 . 10.1186/s13024-021-00499-4 . Molecular Neurodegeneration
Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study
Öijerstedt, Linn; Andersson, Christin; Jelic, Vesna; van Swieten, John Cornelis; Jiskoot, Lize C; Seelaar, Harro; Borroni, Barbara; et al, Journal of Neurology, Neurosurgery & Psychiatry. 336 - 339. 3. 93. 2021. http://dx.doi.org/10.1136/jnnp-2021-327005 . 10.1136/jnnp-2021-327005 . Journal of Neurology, Neurosurgery & Psychiatry
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study
Wilke, Carlo; Reich, Selina; Swieten, John C.; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; et al, Annals of Neurology. 33 - 47. 1. 91. 2021. http://dx.doi.org/10.1002/ana.26265 . 10.1002/ana.26265 . Annals of Neurology
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia
Benussi, Alberto; Premi, Enrico; Gazzina, Stefano; Brattini, Chiara; Bonomi, Elisa; Alberici, Antonella; Jiskoot, Lize; et al, JAMA Network Open. 1. 4. 2021. http://dx.doi.org/10.1001/jamanetworkopen.2020.30194 . 10.1001/jamanetworkopen.2020.30194 . JAMA Network Open
Disease-related cortical thinning in presymptomatic granulin mutation carriers
Borrego-Écija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermín; Masellis, Mario; Tartaglia, Carmela; et al, NeuroImage: Clinical. 29. 2021. http://dx.doi.org/10.1016/j.nicl.2020.102540 . 10.1016/j.nicl.2020.102540 . NeuroImage: Clinical
Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia
Panman, Jessica L; Venkatraghavan, Vikram; van der Ende, Emma L; Steketee, Rebecca M E; Jiskoot, Lize C; Poos, Jackie M; Dopper, Elise G P; et al, Journal of Neurology, Neurosurgery & Psychiatry. jnnp - 2020. 2021. http://dx.doi.org/10.1136/jnnp-2020-323541 . 10.1136/jnnp-2020-323541 . Journal of Neurology, Neurosurgery & Psychiatry
Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study
Tábuas-Pereira, Miguel; Lima, Marisa; Duro, Diana; Durães, João; Vieira, Daniela; Baldeiras, Inês; Almeida, MariaRosário; Santana, Isabel, Neural Regeneration Research. 5. 16. 2021. http://dx.doi.org/10.4103/1673-5374.297082 . 10.4103/1673-5374.297082 . Neural Regeneration Research
Neurology training and research in the COVID-19 pandemic: a survey of the Resident and Research Fellow Section of the European Academy of Neurology
Cuffaro, Luca; Carvalho, Vanessa; Di Liberto, Giovanni; Klinglehoefer, Lisa; Sauerbier, Anna; Garcia-Azorin, David; Tábuas-Pereira, Miguel; et al, European Journal of Neurology. 2021. http://dx.doi.org/10.1111/ene.14696 . 10.1111/ene.14696 . European Journal of Neurology
Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia
Silva-Spínola, Anuschka; Lima, Marisa; Leitão, Maria João; Durães, João; Tábuas-Pereira, Miguel; Almeida, Maria Rosário; Santana, Isabel; Baldeiras, Inês, European Journal of Neurology. 36 - 46. 1. 29. 2021. http://dx.doi.org/10.1111/ene.15058 . 10.1111/ene.15058 . European Journal of Neurology
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia.
Benussi A; Alberici A; Samra K; Russell LL; Greaves CV; Bocchetta M; Ducharme S; et al, Alzheimer's & dementia : the journal of the Alzheimer's Association. 2021. http://europepmc.org/abstract/med/34874596 . 10.1002/alz.12485 . Alzheimer's & dementia : the journal of the Alzheimer's Association
Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study
Poos, Jackie M.; Russell, Lucy L.; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V.; Jiskoot, Lize C.; Ende, Emma L.; et al, Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 1. 13. 2021. http://dx.doi.org/10.1002/dad2.12185 . 10.1002/dad2.12185 . Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
Characterizing the Clinical Features and Atrophy Patterns of <i>MAPT</i>-Related Frontotemporal Dementia With Disease Progression Modeling.
Young AL; Bocchetta M; Russell LL; Convery RS; Peakman G; Todd E; Cash DM; et al, Neurology. 2021. http://europepmc.org/abstract/med/34158384 . 10.1212/wnl.0000000000012410 . Neurology
Takotsubo cardiomyopathy and internuclear opthalmoplegia - the clues for another diagnosis
EUROPEAN JOURNAL OF NEUROLOGY. 2021. EUROPEAN JOURNAL OF NEUROLOGY
Impact of Covid-19 pandemic on quality of life and cognitive decline in mild cognitive impairment and dementia
EUROPEAN JOURNAL OF NEUROLOGY. 2021. EUROPEAN JOURNAL OF NEUROLOGY
Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration.
Rojas JC; Wang P; Staffaroni AM; Heller C; Cobigo Y; Wolf A; Goh SM; et al, Neurology. 2021. http://europepmc.org/abstract/med/33827960 . 10.1212/wnl.0000000000011848 . Neurology
Utility of the FTLD-modified CDR in the Portuguese population: preliminary results
EUROPEAN JOURNAL OF NEUROLOGY. 2021. EUROPEAN JOURNAL OF NEUROLOGY
Montreal Cognitive Assessment as a predictor of Mild Cognitive Impairment risk of conversion to Dementia
EUROPEAN JOURNAL OF NEUROLOGY. 2021. EUROPEAN JOURNAL OF NEUROLOGY
Parental longevity as a protective factor for Alzheimer's disease
EUROPEAN JOURNAL OF NEUROLOGY. 2021. EUROPEAN JOURNAL OF NEUROLOGY
Patients with progranulin mutations overlap with the progressive dysexecutive syndrome: towards the definition of a frontoparietal dementia phenotype
Tábuas-Pereira, Miguel; Almeida, Maria Rosário; Duro, Diana; Lima, Marisa; Durães, João; Guerreiro, Rita; Brás, José; Baldeiras, Inês; Santana, Isabel, Brain Communications. 2. 2. 2020. http://dx.doi.org/10.1093/braincomms/fcaa126 . 10.1093/braincomms/fcaa126 . Brain Communications
Blood-brain barrier dysfunction in Alzheimer's disease is different in female and male patients
Antunes Cunha, Inês; Tábuas-Pereira, Miguel; Sousa Fernandes, Carolina; Maia, C.; Durães, João; Duro, Diana; Gens, Helena; et al, EUROPEAN JOURNAL OF NEUROLOGY. 525 - 525. S1. 27. 2020. EUROPEAN JOURNAL OF NEUROLOGY
Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes.
Malpetti M; Jones PS; Tsvetanov KA; Rittman T; van Swieten JC; Borroni B; Sanchez-Valle R; et al, Alzheimer's & dementia : the journal of the Alzheimer's Association. 2020. http://europepmc.org/abstract/med/33316852 . 10.1002/alz.12252 . Alzheimer's & dementia : the journal of the Alzheimer's Association
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Altmann A; Cash DM; Bocchetta M; Heller C; Reynolds R; Moore K; Convery RS; et al, Brain communications. 2020. http://europepmc.org/abstract/med/33210084 . 10.1093/braincomms/fcaa122 . Brain communications
Portuguese Consensus on the Diagnosis and Management of Lewy Body Dementia (PORTUCALE)
Monteiro, Ana; Velon, Ana Graça; Rodrigues, Ana Margarida; Oliveira, Ana; Valadas, Anabela; Nóbrega, Camila; Cruto, Catarina; et al, 2020. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13696 .
Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration.
Tavares TP; Mitchell DGV; Coleman KK; Coleman BL; Shoesmith CL; Butler CR; Santana I; et al, Journal of neurology, neurosurgery, and psychiatry. 2020. http://europepmc.org/abstract/med/32769115 . 10.1136/jnnp-2020-322987 . Journal of neurology, neurosurgery, and psychiatry
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; et al, Cortex. 384 - 398. 133. 2020. http://dx.doi.org/10.1016/j.cortex.2020.08.023 . 10.1016/j.cortex.2020.08.023 . Cortex
Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers
Tábuas-Pereira, Miguel, Annals of Neurology. 2020. http://dx.doi.org/10.1002/ana.25748 . 10.1002/ana.25748 . Annals of Neurology
Abnormal findings in peer neurological examination - ethical and management approaches after two "clinical" cases
EUROPEAN JOURNAL OF NEUROLOGY. 2020. EUROPEAN JOURNAL OF NEUROLOGY
Genetic architecture of common non-Alzheimer’s disease dementias
Tábuas-Pereira, Miguel, Neurobiology of Disease. 2020. http://dx.doi.org/10.1016/j.nbd.2020.104946 . 10.1016/j.nbd.2020.104946 . Neurobiology of Disease
Face-Specific Perceptual Distortions Reveal A View- and Orientation-Independent Face Template
Tábuas-Pereira, Miguel, Current Biology. 2020. http://dx.doi.org/10.1016/j.cub.2020.07.067 . 10.1016/j.cub.2020.07.067 . Current Biology
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia
Tábuas-Pereira, Miguel, Journal of Neurology, Neurosurgery & Psychiatry. 2020. http://dx.doi.org/10.1136/jnnp-2019-321954 . 10.1136/jnnp-2019-321954 . Journal of Neurology, Neurosurgery & Psychiatry
Single Word Repetition Predicts Long-Term Outcome of Aphasia Caused by an Ischemic Stroke
Tábuas-Pereira, Miguel, Journal of Stroke and Cerebrovascular Diseases. 2020. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.104566 . 10.1016/j.jstrokecerebrovasdis.2019.104566 . Journal of Stroke and Cerebrovascular Diseases
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Tábuas-Pereira, Miguel, The Lancet Neurology. 2020. http://dx.doi.org/10.1016/s1474-4422(19)30394-1 . 10.1016/s1474-4422(19)30394-1 . The Lancet Neurology
CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort
Tábuas-Pereira, Miguel, Brain. 2020. http://dx.doi.org/10.1093/brain/awaa183 . 10.1093/brain/awaa183 . Brain
Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia
van der Ende, Emma L; Xiao, Meifang; Xu, Desheng; Poos, Jackie M; Panman, Jessica L; Jiskoot, Lize C; Meeter, Lieke H; et al, Journal of Neurology, Neurosurgery & Psychiatry. jnnp - 2019. 2020. http://dx.doi.org/10.1136/jnnp-2019-322493 . 10.1136/jnnp-2019-322493 . published Journal of Neurology, Neurosurgery & Psychiatry
Two sisters with myoclonus and ataxia
Pereira, Miguel; Durães, João; Macário, Maria do Carmo, Practical Neurology. practneurol - 2019. 2020. http://dx.doi.org/10.1136/practneurol-2019-002446 . 10.1136/practneurol-2019-002446 . Practical Neurology
Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia.
Tsvetanov KA; Gazzina S; Jones PS; van Swieten J; Borroni B; Sanchez-Valle R; Moreno F; et al, Alzheimer's & dementia : the journal of the Alzheimer's Association. 2020. http://europepmc.org/abstract/med/33215845 . 10.1002/alz.12209 . Alzheimer's & dementia : the journal of the Alzheimer's Association
Consenso Português para o Diagnóstico e Gestão Clínica da Demência com Corpos de Lewy (PORTUCALE)
Monteiro, Ana; Velon, Ana Graça; Rodrigues, Ana Margarida; Oliveira, Ana; Valadas, Anabela; Nóbrega, Camila; Cruto, Catarina; et al, Acta Médica Portuguesa. 12. 33. 2020. http://dx.doi.org/10.20344/amp.13696 . 10.20344/amp.13696 . Acta Médica Portuguesa
Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort
Tábuas-Pereira, Miguel, Journal of Neurology, Neurosurgery & Psychiatry. 2020. http://dx.doi.org/10.1136/jnnp-2020-323279 . 10.1136/jnnp-2020-323279 . Journal of Neurology, Neurosurgery & Psychiatry
C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease dementia
Tábuas-Pereira, Miguel, Experimental Gerontology. 2020. http://dx.doi.org/10.1016/j.exger.2020.111004 . 10.1016/j.exger.2020.111004 . Experimental Gerontology
Incidental findings in peer neurological examination
Tábuas-Pereira, Miguel, Journal of the Neurological Sciences. 2020. http://dx.doi.org/10.1016/j.jns.2020.117065 . 10.1016/j.jns.2020.117065 . Journal of the Neurological Sciences
Alzheimer’s Disease Genetics: Review of Novel Loci Associated with Disease
Tábuas-Pereira, Miguel; Santana, Isabel; Guerreiro, Rita; Brás, José, Current Genetic Medicine Reports. 1 - 16. 1. 8. 2020. http://dx.doi.org/10.1007/s40142-020-00182-y . 10.1007/s40142-020-00182-y . Current Genetic Medicine Reports
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study
van der Ende, Emma L; Meeter, Lieke H; Poos, Jackie M; Panman, Jessica L; Jiskoot, Lize C; Dopper, Elise G P; Papma, Janne M; et al, The Lancet Neurology. 1103 - 1111. 12. 18. 2019. http://dx.doi.org/10.1016/s1474-4422(19)30354-0 . 10.1016/s1474-4422(19)30354-0 . The Lancet Neurology
Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia.
Tábuas-Pereira, Miguel, Neurobiology of aging. 2019. http://europepmc.org/articles/PMC6491498 . 10.1016/j.neurobiolaging.2018.12.009 . Neurobiology of aging
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.
Tábuas-Pereira, Miguel, NeuroImage. 2019. https://doi.org/10.1016/j.neuroimage.2019.01.080 . 10.1016/j.neuroimage.2019.01.080 . NeuroImage
Increased CSF tau is associated with a higher risk of seizures in patients with Alzheimer's disease
Tábuas-Pereira, Miguel, Epilepsy & Behavior. 2019. http://dx.doi.org/10.1016/j.yebeh.2019.06.033 . 10.1016/j.yebeh.2019.06.033 . Epilepsy & Behavior
Lower CSF Amyloid-Beta<sub>1–42</sub> Predicts a Higher Mortality Rate in Frontotemporal Dementia
Daniela Vieira; João Durães; Inês Baldeiras; Beatriz Santiago; Diana Duro; Marisa Lima; Maria João Leitão; Miguel Tábuas-Pereira; Isabel Santana, Diagnostics. 2019. https://www.mdpi.com/2075-4418/9/4/162 . 10.3390/diagnostics9040162 . Diagnostics
Education modulates brain maintenance in presymptomatic frontotemporal dementia.
Tábuas-Pereira, Miguel, Journal of neurology, neurosurgery, and psychiatry. 2019. https://doi.org/10.1136/jnnp-2019-320439 . 10.1136/jnnp-2019-320439 . Journal of neurology, neurosurgery, and psychiatry
C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease
EUROPEAN JOURNAL OF NEUROLOGY. 2019. EUROPEAN JOURNAL OF NEUROLOGY
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): Description of the Spectrum of Clinical Features and the Genetic Pattern of Transmission
Santo, Gustavo; Silva, Ana Rita; Galego, Orlando; Sousa Fernandes, Carolina; Gomes, Inês; Correia, Inês; Tábuas-Pereira, Miguel; et al, Sinapse. 17 - 25. 1-2. 19. 2019. published Sinapse
Psychiatric features of CADASIL: a pilot case-control study
EUROPEAN JOURNAL OF NEUROLOGY. 2019. EUROPEAN JOURNAL OF NEUROLOGY
Lower amyloid-beta levels predict a more aggressive course in frontotemporal dementia
EUROPEAN JOURNAL OF NEUROLOGY. 2019. EUROPEAN JOURNAL OF NEUROLOGY
Ataxia with oculomotor apraxia type 4-neurological and oculomotor features
EUROPEAN JOURNAL OF NEUROLOGY. 2019. EUROPEAN JOURNAL OF NEUROLOGY
White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.
Sudre CH; Bocchetta M; Heller C; Convery R; Neason M; Moore KM; Cash DM; et al, NeuroImage. Clinical. 2019. http://europepmc.org/abstract/med/31835286 . 10.1016/j.nicl.2019.102077 . NeuroImage. Clinical
Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration
Tábuas-Pereira, Miguel, ALZHEIMER'S DISEASE: NEW BEGINNINGS. 2018. https://doi.org/10.3233/JAD-179908 . 10.3233/978-1-61499-876-1-645 . ALZHEIMER'S DISEASE: NEW BEGINNINGS
[Aphasia Rapid Test: Translation, Adaptation and Validation Studies for the Portuguese Population].
Tábuas-Pereira, Miguel, Acta medica portuguesa. 2018. https://doi.org/10.20344/amp.9090 . 10.20344/amp.9090 . Acta medica portuguesa
The Head Turning Sign in Dementia and Mild Cognitive Impairment: Its Relationship to Cognition, Behavior, and Cerebrospinal Fluid Biomarkers.
Tábuas-Pereira, Miguel, Dementia and geriatric cognitive disorders. 2018. https://doi.org/10.1159/000486531 . 10.1159/000486531 . Dementia and geriatric cognitive disorders
Discriminative capacity and construct validity of the Clock Drawing Test in Mild Cognitive Impairment and Alzheimer's disease.
Tábuas-Pereira, Miguel, The Clinical neuropsychologist. 2018. https://doi.org/10.1080/13854046.2018.1532022 . 10.1080/13854046.2018.1532022 . The Clinical neuropsychologist
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study.
Tábuas-Pereira, Miguel, Muscle & nerve. 2018. https://doi.org/10.1002/mus.26383 . 10.1002/mus.26383 . Muscle & nerve
Addition of the Aß42/40 ratio to the cerebrospinal fluid biomarker profile increases the predictive value for underlying Alzheimer's disease dementia in mild cognitive impairment.
Tábuas-Pereira, Miguel, Alzheimer's research & therapy. 2018. http://europepmc.org/articles/PMC5861634 . 10.1186/s13195-018-0362-2 . Alzheimer's research & therapy
Genetic analysis of a dementia patients' cohort: experience from Coimbra center in Portugal
EUROPEAN JOURNAL OF NEUROLOGY. 2018. EUROPEAN JOURNAL OF NEUROLOGY
Validity and Clinical Utility of Different Clock Drawing Test Scoring Systems in Multiple Forms of Dementia.
Tábuas-Pereira, Miguel, Journal of geriatric psychiatry and neurology. 2018. https://doi.org/10.1177/0891988718774432 . 10.1177/0891988718774432 . Journal of geriatric psychiatry and neurology
Alzheimer's Disease Assessment Scale - Cognitive Subscale (ADAS-Cog): Normative Data for the Portuguese Population.
Tábuas-Pereira, Miguel, Acta medica portuguesa. 2018. https://doi.org/10.20344/amp.8859 . 10.20344/amp.8859 . Acta medica portuguesa
Neurosonology Accuracy for Isolated Acute Vestibular Syndromes
Tábuas-Pereira, Miguel, Journal of Ultrasound in Medicine. 2017. http://dx.doi.org/10.1002/jum.14301 . 10.1002/jum.14301 . Journal of Ultrasound in Medicine
Hereditary Spastic Paraplegias - experience of a tertiary center in Portugal
NEUROLOGY. 2017. NEUROLOGY
European Academy of Neurology - Resident and Research Fellow Section: innovations and future direction in 2017.
Tábuas-Pereira, Miguel, European journal of neurology. 2017. https://doi.org/10.1111/ene.13352 . 10.1111/ene.13352 . European journal of neurology
Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients.
Tábuas-Pereira, Miguel, Neuroscience letters. 2017. https://doi.org/10.1016/j.neulet.2017.01.036 . 10.1016/j.neulet.2017.01.036 . Neuroscience letters
Intracranial Internal Carotid Artery Wall Calcification in Ischemic Strokes Treated with Thrombolysis.
Tábuas-Pereira, Miguel, European neurology. 2017. https://doi.org/10.1159/000477901 . 10.1159/000477901 . European neurology
Clinical Reasoning: A 55-year-old man with rapidly progressive dementia and parkinsonism.
Tábuas-Pereira, Miguel, Neurology. 2017. https://doi.org/10.1212/WNL.0000000000004495 . 10.1212/wnl.0000000000004495 . Neurology
Montreal Cognitive Assessment in mild cognitive impairment: correlation with cerebral spinal fluid biomarkers and prediction of conversion to dementia
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Apraxia in Parkinson's disease
MOVEMENT DISORDERS. 2016. MOVEMENT DISORDERS
The head turning sign in Alzheimer's disease: its relationship with cognitive impairment and CSF biomarkers
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Tremor Frequency Assessment by iPhone® Applications: Correlation with EMG Analysis.
Tábuas-Pereira, Miguel, Journal of Parkinson's disease. 2016. https://doi.org/10.3233/JPD-160936 . 10.3233/jpd-160936 . Journal of Parkinson's disease
Prosopagnosia as the Presenting Symptom of Whipple Disease.
Tábuas-Pereira, Miguel, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology. 2016. https://doi.org/10.1097/WNN.0000000000000091 . 10.1097/wnn.0000000000000091 . Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
Two siblings with action myoclonus renal failure syndrome
MOVEMENT DISORDERS. 2016. MOVEMENT DISORDERS
Prognosis of Early-Onset <em>vs.</em> Late-Onset Mild Cognitive Impairment: Comparison of Conversion Rates and Its Predictors
Tábuas-Pereira, Miguel, Geriatrics. 2016. http://www.mdpi.com/2308-3417/1/2/11 . 10.3390/geriatrics1020011 . Geriatrics
PET examination of the monoamine transporter with 11C-beta-CIT
MOVEMENT DISORDERS. 2016. MOVEMENT DISORDERS
The role of pre-morbid intelligence in the Clock Drawing Test: studies with the Portuguese Irregular Word Reading Test
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Going to the root of the problem: Horner syndrome caused by T1-T2 disc herniation
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
The Clock Drawing Test as a cognitive screening instrument: development of Portuguese normative data for the Mini-mental State Examination plus clock drawing combination
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Neurosonology for the diagnosis of stroke in isolated acute vestibular syndromes
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Late-onset Krabbe disease in an adult metabolic disorders consultation
EUROPEAN JOURNAL OF NEUROLOGY. 2016. EUROPEAN JOURNAL OF NEUROLOGY
Migraine and hypnic headache: an age-related sleep continuum?
JOURNAL OF SLEEP RESEARCH. 2016. JOURNAL OF SLEEP RESEARCH
[Mini-Mental State Examination: Screening and Diagnosis of Cognitive Decline, Using New Normative Data].
Tábuas-Pereira, Miguel, Acta medica portuguesa. 2016. https://doi.org/10.20344/amp.6889 . 10.20344/amp.6889 . Acta medica portuguesa
Predictors of first-line treatment persistence in a portuguese cohort of relapsing-remitting multiple sclerosis
Correia, Inês; Batista, Sónia ; Inês Brás Marques; Miguel Pereira; Ana Gouveia; Joana Parra; Nunes, Carla Cecília; et al, EUROPEAN JOURNAL OF NEUROLOGY. 2015. EUROPEAN JOURNAL OF NEUROLOGY
Neurodegeneration with Brain Iron Accumulation type I: clinical, genetic, radiographic delineation and impact on quality of life
EUROPEAN JOURNAL OF NEUROLOGY. 2015. EUROPEAN JOURNAL OF NEUROLOGY
Hemiprosopometamorphopsia as the presenting symptom of Marchiafava-Bignami disease
EUROPEAN JOURNAL OF NEUROLOGY. 2015. EUROPEAN JOURNAL OF NEUROLOGY
Hemodynamic impact of carotid siphon wall calcification in intravenous thrombolysis
CEREBROVASCULAR DISEASES. 2015. CEREBROVASCULAR DISEASES
Biparietal variant of Alzheimer's disease: a rare presentation of a common disease.
Tábuas-Pereira, Miguel, BMJ case reports. 2015. http://europepmc.org/articles/PMC4289771 . 10.1136/bcr-2014-207011 . BMJ case reports
Prosopagnosia as the presenting symptom of Whipple's Disease
EUROPEAN JOURNAL OF NEUROLOGY. 2015. EUROPEAN JOURNAL OF NEUROLOGY
Spontaneuos periodic hypothermia: differential diagnosis and treatment of a very rare condition
JOURNAL OF NEUROLOGY. 2014. JOURNAL OF NEUROLOGY
Spontaneuos periodic hypothermia: differential diagnosis and treatment of a very rare condition
EUROPEAN JOURNAL OF NEUROLOGY. 2014. EUROPEAN JOURNAL OF NEUROLOGY
5 188 out of 188 Publications
All projects
Information of exclusive responsibility of the researcher 06-09-2026 , from platform CIÊNCIAVITAE.
2020/01/01 - 2024/12/31
Testing Transthyretin (TTR) stability as a key factor in TTR/A-Beta interaction in vivo- use of TTR stabilizers and impact in TTR levels, A-Beta peptide transport and uptake
PTDC/MED-PAT/0959/2021
Invited Scientist Fellow
Universidade do Porto Instituto de Investigação e Inovação em Saúde
Funders: Fundação para a Ciência e a Tecnologia
2020/05/15 - 2025/04/30
Alzheimer's disease genetic architecture in the Portuguese population
R01AG067426
PhD Student Fellow
Van Andel Research Institute
Funders: National Institute on Aging Division of Aging Biology
2017/10/01 -
Genetic and phenotype correlation of a Portuguese Dementia cohort
-
PhD Student Fellow
2011/07/01 - 2014/04/30
The GENetic Frontotemporal Dementia Initiative (GENFI): a new multi-centre platform for the study of frontotemporal lobar degeneration
info:eu-repo/grantAgreement/RCUK/MRC/MR2%FJ0094822%F1/GB
University College London Institute of Neurology
Funders: Schweizerischer Nationalfonds zur Förderung der wissenschaftlichen Forschung
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