Maria do Rosario Almeida

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Information about journal articles, updated at 28-11-2021, from platform CIÊNCIAVITAE.

Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study

Lima, Marisa; Tábuas-Pereira, Miguel; 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

C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease dementia

Fernandes, Andreia; Tábuas-Pereira, Miguel; Duro, Diana; Lima, Marisa; Gens, Helena; Santiago, Beatriz; Durães, João; et al, Experimental Gerontology. 2020. http://dx.doi.org/10.1016/j.exger.2020.111004 . 10.1016/j.exger.2020.111004 . Experimental Gerontology

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

Heller, Carolin; Foiani, Martha S; Moore, Katrina; Convery, Rhian; Bocchetta, Martina; Neason, Mollie; Cash, David M; et al, Journal of Neurology, Neurosurgery & Psychiatry. 263 - 270. 3. 91. 2020. http://dx.doi.org/10.1136/jnnp-2019-321954 . 10.1136/jnnp-2019-321954 . Journal of Neurology, Neurosurgery & Psychiatry

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. 612 - 621. 6. 91. 2020. http://dx.doi.org/10.1136/jnnp-2019-322493 . 10.1136/jnnp-2019-322493 . Journal of Neurology, Neurosurgery & Psychiatry

SQSTM1 gene as a potential genetic modifier of CADASIL phenotype

Maria Rosário Almeida; Ana Rita Silva; Inês Elias; Carolina Fernandes; Rita Machado; Orlando Galego; Gustavo Cordeiro Santo, Journal of Neurology. 2020. https://doi.org/10.1007/s00415-020-10308-5 . 10.1007/s00415-020-10308-5 . Journal of Neurology

Tumor cell and immune cell profiles in primary human glioblastoma: Impact on patient outcome

González-Tablas, María; Otero, Álvaro; Arandia, Daniel; Pascual, Daniel; Ruiz, Laura; Sousa, Pablo; García, Andoni; et al, Brain Pathology. 2020. http://dx.doi.org/10.1111/bpa.12927 . 10.1111/bpa.12927 . Brain Pathology

Early-onset phenotype of bi-allelic GRN mutations

Neuray, Caroline; Sultan, Tipu; Alvi, Javeira Raza; Franca, Marcondes C; Assmann, Birgit; Wagner, Matias; Canafoglia, Laura; et al, Brain. 2020. http://dx.doi.org/10.1093/brain/awaa414 . 10.1093/brain/awaa414 . Brain

APOE ¿4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer’s Disease

Cardoso, Remy; Lemos, Carolina; Oliveiros, Bárbara; Almeida, Maria Rosário; Baldeiras, Inês; Pereira, Cláudia Fragão; Santos, Ana; et al, Journal of Alzheimer's Disease. 587 - 601. 2. 78. 2020. http://dx.doi.org/10.3233/jad-200556 . 10.3233/jad-200556 . Journal of Alzheimer's Disease

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

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

Rosas, Irene; Martínez, Carmen; Coto, Eliecer; Clarimón, Jordi; Lleó, Alberto; Illán-Gala, Ignacio; Dols-Icardo, Oriol; et al, Neurobiology of Aging. 2020. http://dx.doi.org/10.1016/j.neurobiolaging.2020.08.018 . 10.1016/j.neurobiolaging.2020.08.018 . Neurobiology of Aging

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

Moore, Katrina M; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T; Irwin, David J; Massimo, Lauren; Van Deerlin, Vivianna M; et al, The Lancet Neurology. 145 - 156. 2. 19. 2020. http://dx.doi.org/10.1016/s1474-4422(19)30394-1 . 10.1016/s1474-4422(19)30394-1 . The Lancet 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

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

Rittman, T.; Borchert, R.; Jones, S.; van Swieten, J.; Borroni, B.; Galimberti, D.; Masellis, M.; et al, Neurobiology of Aging. 169 - 177. 77. 2019. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062232071&partnerID=MN8TOARS . 10.1016/j.neurobiolaging.2018.12.009 . Neurobiology of Aging

Education modulates brain maintenance in presymptomatic frontotemporal dementia

Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Gasparotti, Roberto; et al, Journal of Neurology, Neurosurgery & Psychiatry. 1124 - 1130. 10. 90. 2019. http://dx.doi.org/10.1136/jnnp-2019-320439 . 10.1136/jnnp-2019-320439 . Journal of Neurology, Neurosurgery & Psychiatry

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

Premi, Enrico; Calhoun, Vince D.; Diano, Matteo; Gazzina, Stefano; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; et al, NeuroImage. 645 - 654. 189. 2019. http://dx.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; Durães, João; Lopes, Joana; Sales, Francisco; Bento, Conceição; Duro, Diana; Santiago, Beatriz; et al, Epilepsy & Behavior. 207 - 209. 98. 2019. http://dx.doi.org/10.1016/j.yebeh.2019.06.033 . 10.1016/j.yebeh.2019.06.033 . Epilepsy & Behavior

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

Sudre, Carole H.; Bocchetta, Martina; Heller, Carolin; Convery, Rhian; Neason, Mollie; Moore, Katrina M.; Cash, David M.; et al, NeuroImage: Clinical. 24. 2019. http://dx.doi.org/10.1016/j.nicl.2019.102077 . 10.1016/j.nicl.2019.102077 . NeuroImage: Clinical

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

Irene Rosas; Carmen Martínez; Jordi Clarimón; Alberto Lleó; Ignacio Illán-Gala; Oriol Dols-Icardo; Barbara Borroni; et al, Neurobiology of Aging. 2019. https://doi.org/10.1016/j.neurobiolaging.2019.10.017 . 10.1016/j.neurobiolaging.2019.10.017 . Neurobiology of Aging

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

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): Caracterização do Espectro de Manifestações Clínicas e do Padrão de Transmissão Genética

Santo, G. C.; Silva, A. R.; Galego, O.; Fernandes, C.; Gomes, I.; Machado, R.; Correia, I.; et al, Sinapse. 17 - 25. 1-2. 19. 2019. Sinapse

Addition of the A beta 42/40 ratio to the cerebrospinal fluid biomarker profile increases the predictive value for underlying Alzheimer's disease dementia in mild cognitive impairment

Baldeiras, I.; Santana, I.; Leitao, M. J.; Gens, H.; Pascoal, R.; Tabuas-Pereira, M.; Beato-Coelho, J.; et al, Alzheimers Research & Therapy. 10. 2018. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000427846300003&KeyUID=WOS:000427846300003 . 10.1186/s13195-018-0362-2 . Alzheimers Research & Therapy

Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles

Gonzalez-Tablas, M.; Crespo, I.; Vital, A. L.; Otero, A.; Nieto, A. B.; Sousa, P.; Patino-Alonso, M. C.; et al, Oncotarget. 28083 - 28102. 46. 9. 2018. 10.18632/oncotarget.25562 . Oncotarget

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Baradaran-Heravi, Y.; Dillen, L.; Nguyen, H. P.; Van Mossevelde, S.; Baets, J.; De Jonghe, P.; Engelborghs, S.; et al, Neurobiol Aging. 293.e9 - 293.e11. 69. 2018. 10.1016/j.neurobiolaging.2018.05.005 . Neurobiol Aging

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

Philtjens, S.; Van Mossevelde, S.; van der Zee, J.; Wauters, E.; Dillen, L.; Vandenbulcke, M.; Vandenberghe, R.; et al, Neurobiol Aging. 181.e3 - 181.e10. 66. 2018. http://dx.doi.org/10.1016/j.neurobiolaging.2018.02.011 . 10.1016/j.neurobiolaging.2018.02.011 . Neurobiol Aging

Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration

Santana, I.; Baldeiras, I.; Santiago, B.; Duro, D.; Freitas, S.; Pereira, M. T.; Almeida, M. R.; et al, J Alzheimers Dis. S647 - s657. s1. 64. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85047120604&partnerID=MN8TOARS . 10.3233/jad-179908 . J Alzheimers Dis

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

Santo, G. C.; Baldeiras, I.; Guerreiro, R.; Ribeiro, J. A.; Cunha, R.; Youngstein, T.; Nanthapisal, S.; et al, Cerebrovasc Dis. 257 - 264. 5-6. 46. 2018. 10.1159/000495794 . Cerebrovasc Dis

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Verheijen, J.; van der Zee, J.; Gijselinck, I.; Van den Bossche, T.; Dillen, L.; Heeman, B.; Gomez-Tortosa, E.; et al, Neurobiology of Aging. 62. 2018. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000418478600027&KeyUID=WOS:000418478600027 . 10.1016/j.neurobiolaging.2017.10.012 . Neurobiology of Aging

Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease

Gabriel, A. J.; Almeida, M. R.; Ribeiro, M. H.; Carneiro, D.; Valerio, D.; Pinheiro, A. C.; Pascoal, R.; et al, Journal of Alzheimers Disease. 1097 - 1105. 3. 61. 2018. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000422845200023&KeyUID=WOS:000422845200023 . 10.3233/jad-170695 . Journal of Alzheimers Disease

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study

Tabuas-Pereira, Miguel; Almendra, Luciano; Almeida, Maria Rosario; Duraes, Joao; Pinho, Andre; Matos, Anabela; Negrao, Luis; Geraldo, Argemiro; Santana, Isabel, Muscle & nerve. 2018. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:30447080&KeyUID=MEDLINE:30447080 . 10.1002/mus.26383 . Muscle & nerve

Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers

Ramos de Matos, Mafalda; Ferreira, Catarina; Herukka, Sanna-Kaisa; Soininen, Hilkka; Janeiro, Andre; Santana, Isabel; Baldeiras, Ines; et al, Journal of Alzheimer's disease : JAD. 639 - 652. 2. 66. 2018. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=MEDLINE&KeyUT=MEDLINE:30320580&KeyUID=MEDLINE:30320580 . 10.3233/jad-180512 . Journal of Alzheimer's disease : JAD

Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients

Gabriel, A. J.; Almeida, M. R.; Ribeiro, M. H.; Duraes, J.; Tabuas-Pereira, M.; Pinheiro, A. C.; Pascoal, R.; Santana, I.; Baldeiras, I., Neuroscience Letters. 101 - 106. 641. 2017. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000394918600017&KeyUID=WOS:000394918600017 . 10.1016/j.neulet.2017.01.036 . Neuroscience Letters

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

De Roeck, A.; Van den Bossche, T.; van der Zee, J.; Verheijen, J.; De Coster, W.; Van Dongen, J.; Dillen, L.; et al, Acta Neuropathologica. 475 - 487. 3. 134. 2017. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000407931900009&KeyUID=WOS:000407931900009 . 10.1007/s00401-017-1714-x . Acta Neuropathologica

Mcardle disease: Clinical and genetic characterization of patients followed in a portuguese tertiary centre,Doença de McArdle: Caracterização clínica e genética de doentes seguidos num centro português terciário

Carvalho, P.; Matos, A.; Brás, A.; Rebelo, O.; Almendra, L.; Geraldo, A.; Almeida, M.R.; Negrão, L., Sinapse. 23 - 26. 2. 17. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85034845335&partnerID=MN8TOARS . Sinapse

SPORADIC CREUTZFELDT-JAKOB DISEASE DIAGNOSTIC ACCURACY IS IMPROVED BY A NEW CSF ELISA 14-3-3 gamma ASSAY

Leitao, M. J.; Baldeiras, I.; Almeida, M. R.; Ribeiro, M. H.; Santos, A. C.; Ribeiro, M.; Tomas, J.; et al, Neuroscience. 398 - 407. 322. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000372349800035&KeyUID=WOS:000372349800035 . 10.1016/j.neuroscience.2016.02.057 . Neuroscience

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

Almeida, M. R.; Letra, L.; Pires, P.; Santos, A.; Rebelo, O.; Guerreiro, R.; van der Zee, J.; Van Broeckhoven, C.; Santana, I., Neurobiology of Aging. 40. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000371908400022&KeyUID=WOS:000371908400022 . 10.1016/j.neurobiolaging.2015.12.015 . Neurobiology of Aging

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

Sassi, C.; Nalls, M. A.; Ridge, P. G.; Gibbs, J. R.; Ding, J. H.; Lupton, M. K.; Troakes, C.; et al, Neurobiology of Aging. 46. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000386973900023&KeyUID=WOS:000386973900023 . 10.1016/j.neurobiolaging.2016.04.004 . Neurobiology of Aging

Corticobasal syndrome in a dementia outpatient clinic: From clinical phenomenology to etiological diagnosis. Síndrome corticobasal numa consulta de demências: da fenomenologia clínica ao diagnóstico etiológico

Arenga, M.; Pereira, M.; Santiago, B.; Baldeiras, I.; Almeida, M.R.; Santana, I., Sinapse. 18 - 26. 1. 16. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026801394&partnerID=MN8TOARS . Sinapse

CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result

Leito, M. J.; Baldeiras, I.; Almeida, M. R.; Ribeiro, M. H.; Santos, A. C.; Ribeiro, M.; Tomas, J.; et al, Journal of Neurology. 1847 - 1861. 9. 263. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000382638000018&KeyUID=WOS:000382638000018 . 10.1007/s00415-016-8209-x . Journal of Neurology

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

Guerreiro, R.; Bras, J.; Batista, S.; Pires, P.; Ribeiro, M. H.; Almeida, M. R.; Oliveira, C.; Hardy, J.; Santana, I., Genes Brain and Behavior. 669 - 677. 7. 15. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000383775000006&KeyUID=WOS:000383775000006 . 10.1111/gbb.12308 . Genes Brain and Behavior

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

Luis, E.; Ortiz, A.; Eudave, L.; Ortega-Cubero, S.; Borroni, B.; Van Der Zee, J.; Gazzina, S.; et al, Journal of Alzheimer's Disease. 303 - 313. 1. 53. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84976411574&partnerID=MN8TOARS . 10.3233/JAD-160006 . Journal of Alzheimer's Disease

MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's disease

Guedes, J. R.; Santana, I.; Cunha, C.; Duro, D.; Almeida, M. R.; Cardoso, A. M.; de Lima, M. C.; Cardoso, A. L., Alzheimers Dement (Amst). 7 - 17. 3. 2016. 10.1016/j.dadm.2015.11.004 . Alzheimers Dement (Amst)

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

Almeida, M. R.; Macario, M. C.; Ramos, L.; Baldeiras, I.; Ribeiro, M. H.; Santana, I., Neurobiology of Aging. 41. 2016. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000375129400020&KeyUID=WOS:000375129400020 . 10.1016/j.neurobiolaging.2016.02.019 . Neurobiology of Aging

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

Cacace, R.; Van den Bossche, T.; Engelborghs, S.; Geerts, N.; Laureys, A.; Dillen, L.; Graff, C.; et al, Human Mutation. 1226 - 1235. 12. 36. 2015. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000364788500015&KeyUID=WOS:000364788500015 . 10.1002/humu.22908 . Human Mutation

Cerebrospinal fluid A beta 40 is similarly reduced in patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease

Baldeiras, I.; Santana, I.; Leitao, M. J.; Ribeiro, M. H.; Pascoal, R.; Duro, D.; Lemos, R.; et al, Journal of the Neurological Sciences. 308 - 316. 1-2. 358. 2015. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000365050200049&KeyUID=WOS:000365050200049 . 10.1016/j.jns.2015.09.022 . Journal of the Neurological Sciences

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Cuyvers, E.; van der Zee, J.; Bettens, K.; Engelborghs, S.; Vandenbulcke, M.; Robberecht, C.; Dillen, L.; et al, Neurobiology of Aging. 5. 36. 2015. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000355100900025&KeyUID=WOS:000355100900025 . 10.1016/j.neurobiolaging.2015.02.014 . Neurobiology of Aging

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

van der Zee, J.; Van Langenhove, T.; Kovacs, G. G.; Dillen, L.; Deschamps, W.; Engelborghs, S.; Matej, R.; et al, Acta Neuropathologica. 397 - 410. 3. 128. 2014. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000340551900007&KeyUID=WOS:000340551900007 . 10.1007/s00401-014-1298-7 . Acta Neuropathologica

Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort

Almeida, M. R.; Baldeiras, I.; Ribeiro, M. H.; Santiago, B.; Machado, C.; Massano, J.; Guimaraes, J.; Resende Oliveira, C.; Santana, I., Neurodegener Dis. 214 - 23. 4. 13. 2014. 10.1159/000352022 . Neurodegener Dis

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

van der Zee, J.; Gijselinck, I.; Dillen, L.; Van Langenhove, T.; Theuns, J.; Engelborghs, S.; Philtjens, S.; et al, Human Mutation. 363 - 373. 2. 34. 2013. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000314477700014&KeyUID=WOS:000314477700014 . 10.1002/humu.22244 . Human Mutation

Glucocerebrosidase Involvement in Parkinson Disease and Other Synucleinopathies

Almeida, Maria do Rosário, Frontiers in Neurology. 3. 2012. http://dx.doi.org/10.3389/fneur.2012.00065 . 10.3389/fneur.2012.00065 . Frontiers in Neurology

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

Almeida, M. R.; Campos-Xavier, A. B.; Medeira, A.; Cordeiro, I.; Sousa, A. B.; Lima, M.; Soares, G.; et al, Clinical Genetics. 150 - 156. 2. 75. 2009. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262665700009&KeyUID=WOS:000262665700009 . 10.1111/j.1399-0004.2008.01123.x . Clinical Genetics

Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene

Santos, H. G.; Fernandes, H. C.; Nunes, J. L.; Almelda, M. R., Clinical Dysmorphology. 41 - 44. 1. 18. 2009. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262213100008&KeyUID=WOS:000262213100008 . 10.1097/MCD.0b013e32831868ea . Clinical Dysmorphology

Muenke syndrome with osteochondroma

Barbosa, Mafalda; Almeida, Maria do Rosário; Reis-Lima, Margarida; Pinto-Basto, Jorge; dos Santos, Heloísa Gonçalves, American Journal of Medical Genetics Part A. 260 - 261. 2. 149A. 2009. http://dx.doi.org/10.1002/ajmg.a.32616 . 10.1002/ajmg.a.32616 . American Journal of Medical Genetics Part A

Iron homeostasis and H63D mutations in alcoholics with and without liver disease

Machado, M. V.; Ravasco, P.; Martins, A.; Almeida, M. R.; Camilo, M. E.; Cortez-Pinto, H., World Journal of Gastroenterology. 106 - 111. 1. 15. 2009. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000262363400013&KeyUID=WOS:000262363400013 . 10.3748/wjg.15.106 . World Journal of Gastroenterology

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (American Journal of Medical Genetic (2007) 143A, (355-359) DOI: 10.002/ajmg.a.31556))

Santos, H.G.; Almeida, M.; Fernandes, H.; Wilkie, A., American Journal of Medical Genetics, Part A. 1234 - 1234. 9. 146. 2008. http://www.scopus.com/inward/record.url?eid=2-s2.0-43049129617&partnerID=MN8TOARS . 10.1002/ajmg.a.31761 . American Journal of Medical Genetics, Part A

Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human

Ewart-Toland, A.; Briassouli, P.; de Koning, J. P.; Mao, J. H.; Yuan, J. W.; Chan, F.; MacCarthy-Morrogh, L.; et al, Nature Genetics. 403 - 412. 4. 34. 2003. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184470500018&KeyUID=WOS:000184470500018 . 10.1038/ng1220 . Nature Genetics

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - Results of an international collaborative study

Müller, W.; Burgart, L.J.; Krause-Paulus, R.; Thibodeau, S.N.; Almeida, M.; Edmonston, T.B.; Boland, C.R.; et al, Familial Cancer. 87 - 92. 2. 1. 2001. http://www.scopus.com/inward/record.url?eid=2-s2.0-6444245757&partnerID=MN8TOARS . 10.1023/A:1013840907881 . Familial Cancer

Familial Frontotemporal Dementia associated with MAPT Mutation: the first Portuguese case

Almeida, MR; Guerreiro, M; Mendonça, A; Almeida, M. do R.; Guerreiro, M.; de Mendonça, A., Sinapse. 75 - 78. 1. 6. 2000. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745328087&partnerID=MN8TOARS . Sinapse

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

Fidalgo, P.; Almeida, M. R.; West, S.; Gaspar, C.; Maia, L.; Wijnen, J.; Albuquerque, C.; et al, European Journal of Human Genetics. 49 - 53. 1. 8. 2000. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000085516400008&KeyUID=WOS:000085516400008 . 10.1038/sj.ejhg.5200393 . European Journal of Human Genetics

Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)(n) flanking markers by fluorescence based semiautomated DNA analysis

Almeida, R.; Fidalgo, P.; Ramalho, E.; Bras, A.; Leitao, N.; Mira, C.; Rueff, J.; Monteiro, C., Journal of Medical Genetics. 244 - 247. 3. 33. 1996. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996TY03900016&KeyUID=WOS:A1996TY03900016 . 10.1136/jmg.33.3.244 . Journal of Medical Genetics

APC intragenic haplotypes in familial adenomatous polyposis

Almeida, R.; Morton, N.; Fidalgo, P.; Leitao, N.; Mira, C.; Rueff, J.; Monteiro, C., Clinical Genetics. 483 - 485. 6. 50. 1996. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1996WH23900010&KeyUID=WOS:A1996WH23900010 . Clinical Genetics

All projects

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Information of exclusive responsibility of the researcher 28-11-2021 , from platform CIÊNCIAVITAE.

2021/01/01 - 2023/12/31

Disease modelling of frontotemporal dementia in human brain organoids

PTDC/MEC-NEU/4814/2020

Principal investigator

Universidade de Coimbra Centro de Neurociências e Biologia Celular; CNC.IBILI

Funders: Fundação para a Ciência e a Tecnologia

2021/03/01 - 2022/03/31

Exploring the Immunogenetics of FTD using advanced human brain organoid models

E119

Researcher

Universidade de Coimbra Centro de Neurociências e Biologia Celular

Funders: Takeda Pharmaceutical Company Limited

2016 - 2017

Clinical and molecular characterization of patients with Paragangliomas of the Carotid Body with a view improved diagnosis and prognosis

Ref.SPACV2016

Researcher

Center for Neurosciences and Cell Biology (CNC), University of Coimbra

Funders: Portuguese Society of Angiology and Vascular Surgery (SPACV)

2015 - 2020

Understanding the Initial Phases of Genetic Frontotemporal Lobar Degeneration - Setting the Stage for Prevention Trials

Ref.GENFI2

Other

Center for Neurosciences and Cell Biology (CNC), University of Coimbra

Funders: University College London (UCL)

2015 - 2016

Exploring Lysosomal dysfunction in Neuronal Ceroid Lipofuscinosis

Ref.SPDM/Genzyme2015

Researcher

Center for Neurosciences and Cell Biology (CNC), University of Coimbra

Funders: Portuguese Society of Metabolic disorders (SPDM)

2012/06/01 - 2015/05/31

BIOMARKAPD: Biomarkers for Alzheimer's disease and Parkinson's disease

JPND/0005/2011

Researcher

Universidade de Coimbra Centro de Neurociências e Biologia Celular; Centro Hospitalar e Universitário de Coimbra EPE

Funders: Fundação para a Ciência e a Tecnologia

2012 - 2012

Défices Cognitivos na Doença de Parkinson: Evolução e Factores Preditivos em Doentes Tratados com Cirurgia Funcional de Estimulação Cerebral Profunda

Ref.CHSJ2012

Researcher

Center for Neurosciences and Cell Biology (CNC), University of Coimbra

Funders: Centro Hospitalar Universitário de São João

2011 - 2014

LRRK2 role on auto-antibody production by human B cells

Ref.MJFF2011

Principal investigator

Center for Neurosciences and Cell Biology (CNC), University of Coimbra

Funders: The Michael J. FOX Foundation for Parkinson´s Research

2010/04/01 - 2014/03/30

Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin mutations

E-Rare2/SAU/0001/2008

Researcher

Universidade de Coimbra

Funders: Fundação para a Ciência e a Tecnologia

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