João Luís Oliveira Durães finished his Master's degree in Medicine by the Faculty of Medicine of the University of Coimbra in 07/2013. He is currently doing his PhD in Health Sciences in the Faculty of Medicine of the University of Coimbra, in the field of Chronobiology and Neurodegenerative Dementias. He completed his Neurology Residency in the Centro Hospitalar e Universitário de Coimbra EPE, where he is currently a Neurology Consultant. He is a member of the Investigation Consortium CIBB (Center for Innovative Biomedicine and Biotechnology) from the University of Coimbra. He currently works mainly in the fields of Dementia, Neurogenetics and Inborn Errors of Metabolism. He collaborated in 3 externally funded Investigation Projects. He published 22 articles in international scientific journals. He was an invited reviewer for 3 articles in international scientific journals and abstract reviewer in National and International Congresses. He had 10 oral presentations as invited speaker in Scientific meetings and Postgraduate courses. He organized 1 international Scientific meeting and 4 courses in the field of Neurology. He was a thesis advisor for 2 MSc in Medicine students. He received 6 prizes, including the João Lobo Antunes 2020 Prize from the Santa Casa da Misericórdia de Lisboa (40000 euros). He is currently a member of the Working Group for beta-oxidation diseases of the Portuguese Society for Metabolic Disorders.
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Personal identification

Full name
João Luís Oliveira Durães

Citation names

  • Durães, João

Author identifiers

Ciência ID
981B-A9BD-BE35
ORCID iD
0000-0001-9671-593X

Email addresses

  • 11038@chuc.min-saude.pt (Professional)

Telephones

Mobile phone
  • 918082696 (Personal)

Websites

Knowledge fields

  • Medical and Health Sciences - Clinical Medicine - Clinical Neurology
  • Medical and Health Sciences - Basic Medicine - Neurosciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Elementary (A2) Intermediate (B1) Elementary (A2) Intermediate (B1) Beginner (A1)
Spanish; Castilian Elementary (A2) Intermediate (B1) Elementary (A2) Intermediate (B1) Beginner (A1)
Italian Beginner (A1) Elementary (A2) Beginner (A1) Beginner (A1) Beginner (A1)
Degree Classification
2018/09/15 - 2023/07/15
Ongoing
 PhD in Health Sciences (Doutoramento)
Major in Neurosciences
Universidade de Coimbra Faculdade de Medicina, Portugal
2007/09/15 - 2013/07/15
Concluded
 MSc in Medicine (Mestrado integrado)
Universidade de Coimbra Faculdade de Medicina, Portugal
"Neurobiologia na recaída : cocaína e heroína" (THESIS/DISSERTATION)
 16

Teaching in Higher Education

Category
Host institution 		Employer
2021/09 - Current Invited Assistant (University Teacher) Universidade de Coimbra Faculdade de Medicina, Portugal

Other Careers

Category
Host institution 		Employer
2021/09 - Current Assistente (Médica) Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2015/01/02 - 2020/10/23 Interno (Médica) Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Grant

Designation Funders
2021 - Current Non-invasive biomarkers of brain AD pathology at pre-dementia stages
EXPL/MEC-NEU/0192/2021
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Ongoing
2020/12 - Current Impact of sleep deprivation on circadian clock function mediated by neurons and glial cells
2020.04499.BD.
PD/BD/135497/2018
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2020 - Current Disease modelling of frontotemporal dementia in human brain organoids
PTDC/MEC-NEU/4814/2020
Researcher
Fundação para a Ciência e a Tecnologia
Ongoing

Contract

Designation Funders
2023 - Current The Genetic Frontotemporal dementia Initiative
doi.org/10.1002/alz.063252
Researcher
Ongoing
2022/01/01 - 2023/06/30 Marcadores não invasivos de patologia DA cerebral antes da demência
10.54499/EXPL/MEC-NEU/0192/2021
Universidade de Coimbra, Portugal

Universidade de Coimbra Instituto de Investigação Clínica e Biomédica de Coimbra, Portugal

Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Publications

Conference abstract
  1. Bernardes, Catarina; Faustino, Pedro; Durães, João; Lima, Marisa; Baldeiras, Ines; Santana, Isabel. "DESENVOLVIMENTO DE CRISES EPILETICAS ASSOCIA-SE A MENOR SOBREVIDA NA DOENÇA DE ALZHEIMER". Paper presented in 36ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  2. Martins, Emanuel; Lima, Marisa; Sardoeira, Ana; Tábuas-Pereira, Miguel; Durães, João; Baldeiras, Inês; Santana, Isabel. "UTILIDADE DO MOCA-MEMORY INDEX SCORE (MOCA-MIS) NA DISTINÇAO ENTRE DOENÇA DE ALZHEIMER E DEMÊNCIA FRONTOTEMPORAL". Paper presented in 36ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  3. Faustino, Pedro; Pancas, Rui; Bernardes, Catarina; Lima, Marisa; Durães, João; Tábuas-Pereira, Miguel; Santana, Isabel. "DYSAUTONOMIA IN DEMENTIA WITH LEWY BODIES AND ALZHEIMER DISEASE: A PORTUGUESE COHORT". Paper presented in 36ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  4. Martins, Sara; Santos, Maria João; Simões, Marta; Ferreira, Joana; Araújo, Maria; Resendes, Gil; meira, dalia; et al. Corresponding author: Grazina, Manuela. "P16.013.A 28 years of genetic screening for Leber’s Hereditary Optic Neuropathy at LBioMiT". Paper presented in 56th European Society of Human Genetics (ESHG) Conference (ESHG 2023), Glasgow, 2024.
    Published
  5. Simões, Marta; Santos, Maria João; Martins, Sara; maria carmo macario; Durães, João; Diogo, Luisa; João Paulo F S Oliveira; José Carlos Ferreira; Grazina, Manuela. "Challenges in genetic diagnosis of mitochondrial diseases: what can functional genomics' studies do?". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), Figueira da Foz, 2024.
    In press
  6. Durães, João; Ribeiro Rocha, Elza; Lima, Marisa; Barros, Francisco; Bernardes, Catarina; Carvalhas-Almeida, Catarina; Bárbara Santos; et al. "REST-ACTIVITY RHYTHMS IN DEMENTIA WITH LEWY BODIES AND ALZHEIMER'S DISEASE: ASSOCIATIONS WITH CLINICAL FINDINGS AND CSF BIOMARKERS". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  7. Coelho, Mariana; Constança Neto Castro; Bernardes, Catarina; Faustino, Pedro; Lima, Marisa; Leitão, Maria João; Santana, Isabel; et al. "UTILIDADE DA GFAP E NFL SÉRICOS NA DEMÊNCIA COM CORPOS DE LEWY". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  8. Bernardes, Catarina; Guerreiro, Rita; Bras, Jose; Durães, João; Baldeiras, Inês; Lima, Marisa; Almeida, Maria Rosario; Santana, Isabel; Tábuas-Pereira, Miguel. "HISTÓRIA FAMILIAR DE DOENÇA DE ALZHEIMER NUMA COORTE PORTUGUESA: EVIDÊNCIA DE RISCO ASSOCIADO AO X E ALELOS RECESSIVOS". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  9. Miguel Tabuas; Durães, João; Tiago Oliveira; Lima, Marisa; Ana Santos; Almeida, Maria Rosario; Isabel Santana. "ESPECTRO CLÍNICO E GENÉTICO DA MUTAÇÃO DO GENE SEQUESTOSSOMA 1 (SQSTM1)". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  10. Baldeiras, Ines; Anuschka Siva-Spínola; João Leitão, Maria; Lima, Marisa; Bernardes, Catarina; Duro, Diana; Durães, João; Tábuas-Pereira, Miguel; Isabel Santana. "BLOOD BIOMARkERS OF AD PATHOLOGY THROUGHOUT THE AD CLINICAL CONTINUUM". Paper presented in Congresso de Neurologia 2022, Aveiro, 2024.
    Published
  11. Bernardes, Catarina; Ana Filipa Sousa; Faustino, Pedro; Durães, João; Lima, Marisa; Tábuas-Pereira, Miguel; Santana, Isabel. "VALIDAÇAO CLÍNICA DE INSTRUMENTOS DE AVALIAÇAO DA FLUTUAÇAO COGNITIVA PARA A POPULAÇAO PORTUGUESA COM DEMÊNCIA". Paper presented in Congresso de Neurologia 2022, Aveiro, 2024.
    Published
  12. Regueira, Patrícia; Baldeiras, Ines; Duro, Diana; Lima, Marisa; Silva-Spínola, Anuschka; Durães, João; Tábuas-Pereira, Miguel; Cerejeira, Joaquim; Santana, Isabel. "TRAJETÓRIAS DOS SINTOMAS NEUROPSIQUIÁTRICOS NUMA COORTE DE INDIVÍDUOS COM DÉFICE COGNITIVO LIGEIRO E BIOMARCADORES DE NEURODEGENERAÇÃO". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  13. Lopes das Neves, Pedro; Durães, João; Silva-Spínola, Anuschka; Lima, Marisa; João Leitão, Maria; Tábuas-Pereira, Miguel; Santana, Isabel; Baldeiras, Ines. "DESEMPENHO DOS NEUROFILAMENTOS DE CADEIA LEVE NO SORO NA AVALIAÇAO DIAGNÓSTICA DE DOENTES COM QUEIXAS COGNITIVAS". Paper presented in 36ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
    Published
  14. Lopes das Neves, Pedro; Durães, João; Silva-Spínola, Anuschka; Lima, Marisa; Leitão, Maria João; Tábuas-Pereira, Miguel; Isabel Santana; Baldeiras, Ines. "NEUROFILAMENTOS DE CADEIA LEVE NO SORO NO DIAGNÓSTICO ETIOLÓGICO DE QUEIXAS COGNITIVAS E SUA RELAÇAO COM OS BIOMARCADORES NO LCR". Paper presented in Congresso de Neurologia 2022, Aveiro, 2024.
    Published
  15. Maria Rosario Almeida; Tábuas-Pereira, Miguel; Durães, João; Lima, Marisa; Baldeiras, Ines; Santana, Isabel. "Mutation analysis of the GRN gene in Portuguese patients with Frontotemporal dementia". Paper presented in International Conference on Neuroscience and Mental Disorders, 2023.
    Published • 10.51219/urforum.2023.maria-rosario-almeida
  16. Simões, Marta; Santos, Maria João; Martins, Sara; Gomes, Célia; Durães, João; João Paulo F S Oliveira; José Carlos Ferreira; et al. "57ASM ¿ 179 | AddFun: Adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, Prague, 2023.
    Published
  17. Santos, Maria João; Simões, Marta; Martins, Sara; Durães, João; Sara Ferreira; Constança Santos; Diogo, Luisa; carmo macario; Grazina, Manuela. "57ASM - 177 | Mitochondrial genome deletions screening: Does next-generation sequencing solve it all?". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, Prague, 2023.
    Published
  18. Bernardes, Catarina; Faustino, Pedro; Lima, Marisa; Duro, Diana; Durães, João; Baldeiras, Ines; Tábuas-Pereira, Miguel; Santana, Isabel. "Dysautonomia in the differential diagnosis of Dementia with Lewy Bodies and Alzheimer's disease". Paper presented in 9th Congress of the European Academy of Neurology, Budapest, 2023.
    Published
  19. Almeida, Maria Rosário; Tábuas-Pereira, Miguel; Durães, João; Lima, Marisa; Baldeiras, Ines; Santana, Isabel. "Mutation spectrum of a dementia patients cohort: Experience from Coimbra center in Portugal". Paper presented in AGEINGCONGRESS, Leiria, 2023.
    Published
  20. Santos, Maria João; Simões, Marta; Martins, Sara; Durães, João; Diogo, Luisa; Macário, Maria do Carmo; Grazina, Manuela. Corresponding author: Grazina, Manuela. "The hole in the whole: mitochondrial DNA deletions screening". Paper presented in 19th International Symposium of SPDM, Coimbra, 2023.
    Published
  21. Simões, Marta; Santos, Maria João; Martins, Sara; Macário, Maria do Carmo; Durães, João; Diogo, Luísa; Ferreira, João Paulo; Grazina, Manuela. Corresponding author: Grazina, Manuela. ""Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do? Published: Endocr Metab Immune Disord Drug Targets . 2023 Dec 18.". Paper presented in 19th International Symposium of SPDM, Figueira da Foz, 2023.
    Published • 10.2174/0118715303273290231211062420
  22. Sardoeira, Ana; Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Baldeiras, Ines; Santana, Isabel. "Utility of the MoCA-Memory Index Score (MoCA-MIS) in distinguishing Alzheimer’s disease from frontotemporal dementia". Paper presented in 8th Congress of the European Academy of Neurology, Viena, 2022.
    Published
  23. Faustino, Pedro; Lima, Marisa; Durães, João; Tábuas-Pereira, Miguel; Santos, Ana; Rosário, Maria Almeida; Baldeiras, Ines; Santana, Isabel. "Progranulin peripheral levels: a reliable screening test to identify patients with progranulin mutations". Paper presented in Congresso de Neurologia 2021, Albufeira, 2022.
    Published
  24. Silva, Cristiana; Lima, Marisa; Santana, Isabel; Durães, João. "A family with cerebral cavernous malformations: towards a neurocognitive profile". Paper presented in Congresso de Neurologia 2021, Albufeira, 2022.
    Published
  25. Machado, Rita; Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Duro, Diana; Morais, Ricardo; Brito, Olga; Santana, Isabel. "Utility of asymmetric temporal lobe atrophy on the diagnosis of Frontotemporal Lobar Degeneration". Paper presented in 8th Congress of the European Academy of Neurology, Viena, 2022.
    Published
  26. Bernardes, Catarina; Faustino, Pedro; Durães, João; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Leitão, Maria João; et al. "Development of seizures reduces survival in patients with Alzheimer's Disease". Paper presented in 8th Congress of the European Academy of Neurology, Viena, 2022.
    Published
  27. Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Vieira, Daniela; Machado, Rita; Silva-Spínola, Anuschka; Baldeiras, Ines; Santana, Isabel. "Neuropsychological Assessment in the distinction between biomarker defined frontal-variant of Alzheimer's Disease and Behavioral-variant frontotemporal dementia". Paper presented in Congresso de Neurologia 2021, Albufeira, 2022.
    Published
  28. Baldeiras, Ines; Silva-Spínola, Anuschka; Lima, Marisa; João Leitão, Maria; Durães, João; Vieira, Daniela; Tábuas-Pereira, Miguel; et al. "Utility of the application of the Amyloid, Tau, and Neurodegeneration (ATN) classification scheme to a multicenter clinical cohort". Paper presented in Congresso de Neurologia 2021, Albufeira, 2022.
    Published
  29. Lima, Marisa; Faustino, Pedro; Tábuas-Pereira, Miguel; Durães, João; Santos, Ana; Almeida, Maria Rosario; Baldeiras, Ines; Santana, Isabel. "Relationship between progranulin peripheral levels and cognitive impairment in Frontotemporal Dementia and Alzheimer¿s disease". Paper presented in Congresso de Neurologia 2021, Albufeira, 2022.
    Published
  30. Mano, Francisco; Duro, Diana; Lima, M; Durães, João; Laranjinha, Inês; Gomes, Inês; Rosário, Maria Almeida; et al. "Parental longevity as a protective factor for Alzheimer's disease". Paper presented in 7th Congress of the European Academy of Neurology, 2021.
    Published
  31. Lima, M; Tábuas-Pereira, Miguel; Vieira, Daniela; Faustino, Pedro; Durães, João; Duro, Diana; Laranjinha, Inês; Baldeiras, Inês; Santana, Isabel. "Utility of the FTLD-modified CDR in the Portuguese population: preliminary results". Paper presented in 7th Congress of the European Academy of Neurology, 2021.
    Published
  32. Lima, M; Durães, João; Duro, Diana; Tábuas-Pereira, Miguel; Vieira, Daniela; Santiago, Beatriz; Santana, Isabel. "Behavioral Variant Frontotemporal Dementia: Gender differences in neuropsychiatric symptoms". Paper presented in 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Coimbra, 2020.
    Published
  33. Marques, Patricia; Tábuas-Pereira, Miguel; Novo, Ana Margarida; Facas, João; Durães, João; Duro, Diana; Lima, M; et al. "Relação dos biomarcadores de LCR de Doença de Alzheimer com distúrbios do sono numa população portuguesa". Paper presented in 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Coimbra, 2020.
    Published
  34. Sousa Fernandes, Carolina; Tábuas-Pereira, Miguel; Cunha, Inês; Durães, João; Duro, Diana; Lima, Marisa; Gens, Helena; et al. "CSF/serum glucose ratio in Frontotemporal Dementia". Paper presented in 6th Congress of the European Academy of Neurology - Virtual, Paris, 2020.
    Published
  35. Antunes Cunha, Inês; Tábuas-Pereira, Miguel; Sousa Fernandes, Carolina; Maia, C.; Durães, João; Duro, Diana; Gens, Helena; et al. "Blood-brain barrier dysfunction in Alzheimer's disease is different in female and male patients". Paper presented in 6th Congress of the European Academy of Neurology - Virtual, Paris, 2020.
    Published
  36. Durães, João. "Neurodegeneration and muscular involvement in intermediate autosomal recessive CLCN7-related Osteopetrosis: an atypical presentation". Paper presented in 71st annual meeting of the American Academy of Neurology, Filadélfia, 2019.
    Published
  37. Durães, João. "Late-onset multiple acyl-CoA dehydrogenase deficiency with a complex genetic finding". Paper presented in 71st annual meeting of the American Academy of Neurology, Filadélfia, 2019.
    Published
  38. Durães, João. "Brief cognitive evaluation in adult-onset leukodystrophies". Paper presented in SSIEM annual symposium 2019, Roterdão, 2019.
    Published
  39. Durães, João. "MicroRNAs of endothelial progenitor cells associated with improved recovery mechanisms in acute ischemic stroke". Paper presented in 5th European Stroke Organization conference, Milão, 2019.
    Published
  40. Durães, João. "C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer’s disease". Paper presented in 5th congress of the European Academy of Neurology, Oslo, 2019.
    Published
  41. Durães, João. "Functional genomics' studies are mandatory for clarifying pathogenicity of novel genetic variants detected by NGS in OXPHOS disorders". Paper presented in 51st European Society of Human Genetics conference, Milão, 2019.
    Published
  42. Durães, João; Tábuas-Pereira, Miguel; Baldeiras, Inês; Leitão, Maria João; Gens, Helena; Duro, Diana; Santiago, Beatriz; Oliveira, Catarina Resende; Santana, Isabel. "Lower amyloid-beta levels predict a more aggressive course in frontotemporal dementia". Paper presented in 5th Congress of the European Academy of Neurology, Oslo, 2019.
    Published
  43. Silva, Bruno; Tábuas-Pereira, Miguel; Durães, João; Coelho, José; Duro, Diana; Lima, Marisa; Leitão, Maria João; Baldeiras, Inês; Santana, Isabel. "Encefalite Auto-Imune: análise dos biomarcadores de patologia degenerativa no LCR". Paper presented in Congresso de Neurologia 2019, Lisboa, 2019.
    Published
  44. Carneiro, Diogo; Tábuas-Pereira, Miguel; Durães, João; Duro, Diana; Lima, Marisa; Santiago, Beatriz; Gens, Helena; et al. "Variáveis de LCR preditoras de PIB-PET positivo". Paper presented in Congresso de Neurologia 2019, Coimbra, 2019.
    Published
  45. Ramos-Lopes, Joana; Tábuas-Pereira, Miguel; Durães, João; Sales, Francisco; Bento, Conceição; Duro, Diana; Santiago, Beatriz; et al. "Aumento da proteína tau no LCR e risco de crises convulsivas na Doença de Alzheimer". Paper presented in Congresso de Neurologia 2018, Porto, 2018.
    Published
  46. Marques, Patrícia; Durães, João; Duro, Diana; Macário, Carmo. "Neurodegenerescência e osteopetrose". Paper presented in Congresso de Neurologia 2018, Porto, 2018.
    Published
  47. Durães, João. "Cerebral creatine deficiency syndromes: a single-centre experience from diagnosis to treatment". Paper presented in 4th congress of the European Academy of Neurology, Lisboa, 2018.
    Published
  48. Durães, João. "Neuropsychiatric symptoms in variants of Primary Progressive Aphasia". Paper presented in 4th congress of the European Academy of Neurology, Lisboa, 2018.
    Published
  49. Tábuas-Pereira, Miguel; Durães, João; Beato-Coelho, José; Duro, Diana; Santiago, Beatriz; Santana, Isabel. "Lewy Body Dementia is associated with an increased risk of atrial fibrillation". Paper presented in Congresso de Neurologia 2017, Lisboa, 2017.
    Published • 10.1109/cic.2005.1588105
  50. Durães, João. "An atypical presentation of Argininossuccinic aciduria". Paper presented in 3rd congress of the European Academy of Neurology, Amesterdão, 2017.
    Published
  51. Durães, João. "Alkaline phosphatase and functional outcome in stroke patients submitted to intravenous fibrinolysis". Paper presented in 3rd European Stroke Organization conference, Praga, 2017.
    Published
  52. Durães, João. "Acute measles encephalitis with an atypical clinical presentation in a vaccinated adult". Paper presented in 3rd congress of the European Academy of Neurology, Amesterdão, 2017.
    Published
  53. Durães, João. "Quality of life in adult Portuguese patients with mitochondrial diseases: initial validation of an assessment instrument". Paper presented in 13th international congress on Inborn Errors of Metabolism, Rio de Janeiro, 2017.
    Published
  54. Durães, João. "Quality of life in adult patients with leukodystrophies: the impact of perceived fatigue". Paper presented in 13th international congress on Inborn Errors of Metabolism, Rio de Janeiro, 2017.
    Published
  55. Durães, João. "ApoE genotype and the outcome of thrombolysis in acute ischemic stroke". Paper presented in 3rd congress of the European Academy of Neurology, Amesterdão, 2017.
    Published
  56. Novo, Ana Margarida; Durães, João; Araújo, Rui; Duro, Diana; Leitão, Maria João; Santana, Isabel. "Distúrbio do sono REM na fase pré-clínica da Demência com Corpos de Lewy (um doente com avaliação prospectiva)". Paper presented in 30ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, Lisboa, 2016.
    Published
  57. Hassan, Eman; Magdy, Nermen. "Late-onset Krabbe disease in an adult metabolic disorders consultation". Paper presented in 2nd congress of the European Academy of Neurology, Copenhaga, 2016.
    Published
  58. Durães, João. "Clinical presentation and molecular genetic testing in Spinocerebellar ataxia type 17". Paper presented in 2nd congress of the European Academy of Neurology, Copenhaga, 2016.
    Published
  59. Tábuas-Pereira, Miguel; Durães, João; Araújo, Rui; Bernardino, Sandra; Duro, Diana; Santiago, Beatriz; Santana, Isabel. "The head turning sign in Alzheimer's disease: its relationship with cognitive impairment and CSF biomarkers.". Paper presented in Second Congress of the European Academy of Neurology, Copenhaga, 2016.
    Published
  60. Varela, Ricardo; Tábuas-Pereira, Miguel; Durães, João; Duro, Diana; Santana, Isabel. "Terapêutica com anticolinesterásicos – Avaliação de benefício sintomático na Doença de Alzheimer". Paper presented in Fórum da Sociedade Portuguesa de Neurologia, Lisboa, 2016.
    Published
  61. Durães, João; Tábuas-Pereira, Miguel; Araújo, Rui; Bernardino, Sandra; Duro, Diana; Santiago, Beatriz; Santana, Isabel. "O "head turning sign" na Doença de Alzheimer e Défice Cognitivo Ligeiro-amnésico". Paper presented in Congresso de Neurologia, Lisboa, 2015.
    Published
  62. Durães, João; Tábuas-Pereira, Miguel; Duro, Diana; Nunes, C; Macário, Carmo; Santana, Isabel. "Demência em doente com Polineuropatia Amiloidótica Familiar de início tardio". Paper presented in Congresso de Neurologia, Lisboa, 2015.
    Published
  63. Durães, João; Santiago, Beatriz; Duro, Diana; Machado, C; Almeida, Maria Rosário; Santana, Isabel. "Avaliação fenotípica de portadores e famílias com mutações no gene da progranulina no espectro da Degenerescência Lobar Fronto-Temporal". Paper presented in Fórum de Neurologia, Aveiro, 2015.
    Published
Conference poster
  1. Silva-Spínola, Anuschka; Leitão, Maria João; Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Santana, Isabel; Baldeiras, Ines. "Detecting Alzheimer’s disease pathology in a general neurology cohort using plasma phosphorylated Tau 181 and 217 LUMIPULSE assays". Paper presented in 4th meeting of the CSF Society, 2024.
  2. Carolina Cunha; Inês Cunha; Ana Brás; Rute Teotónio; Conceição Bento; Pereira, Daniela Jardim; Joao Lemos; et al. "Encefalite “Posterior” de Rasmussen – uma apresentação tardia e atípica.". Paper presented in 36º Encontro Nacional de Epileptologia, 2024.
  3. Silva-Spínola, Anuschka; Damas, Diogo; Duro, Diana; Lima, Marisa; Leitão, Maria João; Tábuas-Pereira, Miguel; Durães, João; Santana, Isabel; Baldeiras, Inês. "Blood-based biomarkers and cognitive profiling as early indicators of Alzheimer’s disease pathology in Individuals with memory complaints". Paper presented in AD/PD 2024 International Conference on Alzheimer's and Parkinson's Diseases and related neurological disorders, 2024.
  4. Diana Valente; Durães, João; Barros, Francisco; Lima, Marisa; Baldeiras, Ines; Tábuas-Pereira, Miguel; Almeida, Maria Rosario; Isabel Santana. "DOENÇA DE ALZHEIMER DE INÍCIO PRECOCE: IMPLICAÇÕES GENÉTICAS E DESAFIOS DIAGNÓSTICOS". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
  5. Silva-Spínola, Anuschka; Diogo Damas; Lima, Marisa; Leitão, Maria João; Tábuas-Pereira, Miguel; Durães, João; Isabel Santana; Baldeiras, Ines. "BLOOD-BASED BIOMARKERS AND COGNITIVE PROFILING AS EARLY INDICATORS OF ALZHEIMER’S DISEASE PATHOLOGY IN INDIVIDUALS WITH MEMORY COMPLAINTS". Paper presented in 38ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
  6. Silva-Spínola, Anuschka; Leitão, Maria João; Lima, Marisa; Bernardes, Catarina; Duro, Diana; Tábuas-Pereira, Miguel; Durães, João; Santana, Isabel; Inês Baldeiras. "PERIPHERAL BLOOD BIOMARKERS’ ASSOCIATION TO THE CSF-BASED AT(N) CLASSIFICATION IN MCI PATIENTS". Paper presented in 36ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2024.
  7. Martins, Sara; Maria João Santos; Marta Simões; Tavares Ferreira, Joana; Maria Araújo; Gil Resendes; Dália Meira; et al. Corresponding author: Grazina, Manuela. "28 years of genetic screening for Leber’s Hereditary Optic Neuropathy at LBioMiT". Paper presented in ESHG 2023, 2023.
  8. Marta Simões; Maria João Santos; Martins, Sara; Célia A Gomes; Durães, João; João Paulo Oliveira; José Carlos Ferreira; et al. "(not self) 57ASM - 179 | AddFun: Adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, 2023.
  9. Martins, Sara; Santos, Maria João; Simões, Marta; Durães, João; Ferreira, Sara; Santos, Constança; Diogo, Luísa; Macário, Maria do Carmo; Grazina, Manuela. "Mitochondrial genome deletions screening - does next-generation sequencing solve it all?". Paper presented in ESCI 2023 Annual Scientific Meeting, 2023.
  10. Simões, Marta; Santos, Maria João; Gomes, Célia Alcobia; Durães, João; Oliveira, João Paulo; Ferreira, José Carlos; Macário, Maria do Carmo; Diogo, Luisa; Grazina, Manuela. "AddFun: adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in ESCI 2023 Annual Scientific Meeting, 2023.
  11. Martins, Sara; Santos, Maria João; Simões, Marta; António Friande Pereira; Cristina Almeida; meira, dalia; Resendes, Gil; et al. "The Road So Far and beyond: 28 years of Leber’s Hereditary Optic Neuropathy at LBioMiT - past, present and future". Paper presented in MitoPorto 2023, 2023.
  12. Pais, Alexandre; Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Martins, Cristina; Vilar, Maria Manuela Pereira; Santana, Isabel. Corresponding author: Lima, Marisa. "MINI-LINGUISTIC STATE EXAMINATION (MLSE): Preliminary validation studies for the Portuguese population". Paper presented in 37ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2023.
  13. Coelho, Mariana; Almeida, Maria Rosário; Lima, Marisa; Baldeiras, Ines; Durães, João; Santana, Isabel; Tábuas-Pereira, Miguel. "Expansão do C9orf72 com 23 repeats associada a demência Frontotemporal ¿ Afasia Primária Progressiva". Paper presented in 37ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2023.
  14. Silva-Spínola, Anuschka; João Leitão, Maria; Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Santana, Isabel; Baldeiras, Ines. "PHOSPHORYLATED-TAU 181 IN PERIPHERAL BLOOD AND PROGRESSION TO AD DEMENTIA IN MCI PATIENTS". Paper presented in 16th International Conference on Alzheimer¿s & Parkinson¿s Diseases, 2022.
  15. Lima, Marisa; Cristina, Martins; Tábuas-Pereira, Miguel; Durães, João; Peter Garrard; Simões, Mário; Isabel Santana. "THE MINI-LINGUISTIC STATE EXAMINATION (MLSE): DEVELOPMENT OF THE EUROPEAN-PORTUGUESE VERSION". Paper presented in Congresso de Neurologia 2022, 2022.
  16. Martins, Emanuel; Tábuas-Pereira, Miguel; Lima, Marisa; Durães, João; Baldeiras, Inês; Isabel Santana. "NAUGHTY MUSICIAN: A INTERESTING MANIFESTATION OF SEMANTIC BEHAVIOURAL VARIANT FRONTOTEMPORAL DEMENTIA (SbvfTD)". Paper presented in Congresso de Neurologia 2022, 2022.
  17. Machado, Rita; Lima, Marisa; Durães, João; Carneiro, Diogo; Tábuas-Pereira, Miguel; Brito, Olga; Santana, Isabel. "Autonomic Dysfunction in Frontotemporal Lobar Degeneration: Clinical and MRI analysis". Paper presented in Congresso de Neurologia 2020, 2020.
  18. Faustino, Pedro; Durães, João; Tábuas-Pereira, Miguel. "Fatigue and quality of life in adult-onset leukodystrophies". Paper presented in 15th International Symposium SPDM, 2019.
  19. Baldeiras, Ines; Durães, João; Silva-Spínola, Anuschka; Leitão, Maria João; Tábuas-Pereira, Miguel; Duro, Diana; Almeida, Maria Rosário; Santana, Isabel. "Cerebrospinal fluid neurofilament light chain levels in Frontotemporal Lobar Degeneration: Genetic and phenotypic associations". Paper presented in 14th International Conference in Alzheimer's & Parkinson's Disease, 2019.
  20. Cunha, Inês; Tábuas-Pereira, Miguel; Fernandes, Carolina; Durães, João; Duro, Diana; Gens, Helena; Santiago, Beatriz; et al. "O significado da disfunção da barreira hematoencefálica na Doença de Alzheimer". Paper presented in 33ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência, 2019.
  21. Durães, João; Cancelinha, C; Pinto, J; Robalo, M; Grazina, Manuela; Ramos, L.; Diogo, L; Garcia, P. "A novel variant in SLC25A46 gene presenting as a lethal encephalopathy with optic atrophy". Paper presented in 14º SIMPÓSIO INTERNACIONAL DA SOCIEDADE PORTUGUESA DE DOENÇAS METABÓLICAS (SPDM), 2018.
Journal article
  1. Cristiana Silva; João Durães; Marisa Lima; Daniela Jardim Pereira; Isabel Santana; Maria Rosário Almeida. "Towards a neurocognitive profile in familial cerebral cavernous malformations". Acta Neurologica Belgica (2024): https://doi.org/10.1007/s13760-023-02314-x.
    10.1007/s13760-023-02314-x
  2. Tábuas-Pereira, Miguel; Lima, Marisa; Bernardes, Catarina; Durães, João; Duro, Diana; Baldeiras, Ines; Freire-Gonçalves, António; et al. "SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia". Parkinsonism & Related Disorders (2024): 106069. http://dx.doi.org/10.1016/j.parkreldis.2024.106069.
    Published • 10.1016/j.parkreldis.2024.106069
  3. Maria Rosário Almeida; Miguel Tábuas-Pereira; Inês Baldeiras; Marisa Lima; João Durães; João Massano; Madalena Pinto; Catarina Cruto; Isabel Santana. "Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia". International Journal of Molecular Sciences (2023): https://doi.org/10.3390/ijms25010511.
    10.3390/ijms25010511
  4. Silva-Spínola, Anuschka; Leitão, Maria João; Lima, Marisa; Bernardes, Catarina; Duro, Diana; Regueira, Patrícia; Tábuas-Pereira, Miguel; et al. "Predicting progression of Mild Cognitive Impairment patients through four distinctive groups obtained by a dimensionality reduction algorithm". Alzheimer's & Dementia 19 S15 (2023): http://dx.doi.org/10.1002/alz.073665.
    10.1002/alz.073665
  5. Bernardes, Catarina; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Durães, João; Tábuas-Pereira, Miguel; Baldeiras, Inês; Freitas, Sandra; Santana, Isabel. "Montreal Cognitive Assessment in Mild Cognitive Impairment: Relationship with Cerebrospinal Fluid Biomarkers and Conversion to Dementia". Journal of Alzheimer's Disease 96 3 (2023): 1173-1182. http://dx.doi.org/10.3233/jad-230916.
    10.3233/jad-230916
  6. Bateman, Randall J.; Smith, Janice; Donohue, Michael C.; Delmar, Paul; Abbas, Rachid; Salloway, Stephen; Wojtowicz, Jakub; et al. "Two Phase 3 Trials of Gantenerumab in Early Alzheimer’s Disease". New England Journal of Medicine 389 20 (2023): 1862-1876. http://dx.doi.org/10.1056/nejmoa2304430.
    10.1056/nejmoa2304430
  7. Ullgren, Abbe; Öijerstedt, Linn; Olofsson, Jennie; Bergström, Sofia; Remnestål, Julia; van Swieten, John C.; Jiskoot, Lize C.; et al. "Altered plasma protein profiles in genetic FTD – a GENFI study". Molecular Neurodegeneration 18 1 (2023): http://dx.doi.org/10.1186/s13024-023-00677-6.
    10.1186/s13024-023-00677-6
  8. Coelho, Mariana; Durães, João; Freixo, João; Tomás, José; Macário, Carmo. "It’s Never Too Late for a Diagnosis". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/0118715303280103231006102831.
    10.2174/0118715303280103231006102831
  9. Veronese, Nicola; Soysal, Pinar; Demurtas, Jacopo; Solmi, Marco; Bruyère, Olivier; Christodoulou, Nikos; Ramalho, Rodrigo; et al. "Physical activity and exercise for the prevention and management of mild cognitive impairment and dementia: a collaborative international guideline". European Geriatric Medicine 14 5 (2023): 925-952. http://dx.doi.org/10.1007/s41999-023-00858-y.
    10.1007/s41999-023-00858-y
  10. Martins, Emanuel; Durães, João; Nogueira, Célia; Gomes, João; Vilarinho, Laura; Macário, Carmo. "SERAC1 Deficiency- A New Phenotype". Endocrine, Metabolic & Immune Disorders - Drug Targets 23 (2023): http://dx.doi.org/10.2174/1871530323666230914114456.
    10.2174/1871530323666230914114456
  11. Lopes das Neves, Pedro; Durães, João; Silva-Spinola, Anuschka; Lima, Marisa; Leitão, Maria João; Tábuas-Pereira, Miguel; Santana, Isabel; Baldeiras, Inês. "Serum Neurofilament Light Chain in the Diagnostic Evaluation of Patients with Cognitive Symptoms in the Neurological Consultation of a Tertiary Center". Journal of Alzheimer's Disease 95 2 (2023): 391-397. http://dx.doi.org/10.3233/jad-221208.
    10.3233/jad-221208
  12. Anuschka Silva-Spínola; Marisa Lima; Maria João Leitão; Catarina Bernardes; João Durães; Diana Duro; Miguel Tábuas-Pereira; Isabel Santana; Inês Baldeiras. "Blood biomarkers in mild cognitive impairment patients: Relationship between analytes and progression to Alzheimer disease dementia". European Journal of Neurology (2023): https://doi.org/10.1111/ene.15762.
    10.1111/ene.15762
  13. Benzoni, Chiara; Moscatelli, Marco; Farina, Laura; Magri, Stefania; Ciano, Claudia; Scaioli, Vidmer; Alverà, Sara; et al. "Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients". Journal of Neurology 270 9 (2023): 4219-4234. http://dx.doi.org/10.1007/s00415-023-11762-7.
    10.1007/s00415-023-11762-7
  14. Sobral-Pinho, André; Jorge, André; Fonseca, Pedro; Sargento-Freitas, João; Durães, João; Martins, Ana Inês; Macário, Maria Carmo; Lemos, João. "Sequential and combined central retinal artery occlusion and anterior ischemic optic neuropathy in Fabry’s disease". Journal of Neurology 270 8 (2023): 4103-4106. http://dx.doi.org/10.1007/s00415-023-11734-x.
    10.1007/s00415-023-11734-x
  15. Klockgether, Thomas; Synofzik, Matthis; Alhusaini, Saud; Anheim, Mathieu; Antonijevic, Irina; Ashizawa, Tee; Bataller, Luis; et al. "Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance". The Cerebellum (2023): http://dx.doi.org/10.1007/s12311-023-01547-z.
    10.1007/s12311-023-01547-z
  16. Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Vieira, Daniela; Faustino, Pedro; Baldeiras, Inês; Santana, Isabel. "Neuropsychological Assessment in the Distinction Between Biomarker Defined Frontal-Variant of Alzheimer’s Disease and Behavioral-Variant of Frontotemporal Dementia". Journal of Alzheimer's Disease 91 4 (2023): 1303-1312. http://dx.doi.org/10.3233/jad-220897.
    10.3233/jad-220897
  17. Bernardes, Catarina; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Durães, João; Tábuas-Pereira, Miguel; Baldeiras, Ines; Freitas, Sandra; Santana, Isabel. "Montreal cognitive assessment in mild cognitive impairment: relationship with CSF biomarkers and conversion to dementia". Journal of Alzheimer's Disease (2023):
    Accepted
  18. Pérez-Millan, Agnès; Borrego-Écija, Sergi; van Swieten, John C.; Jiskoot, Lize; Moreno, Fermin; Laforce, Robert; Graff, Caroline; et al. "Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study". Journal of Neurology 270 3 (2022): 1573-1586. http://dx.doi.org/10.1007/s00415-022-11435-x.
    10.1007/s00415-022-11435-x
  19. Baldeiras, Inês; Silva-Spínola, Anuschka; Lima, Marisa; Leitão, Maria João; Durães, João; Vieira, Daniela; Tbuas-Pereira, Miguel; et al. "Alzheimer’s Disease Diagnosis Based on the Amyloid, Tau, and Neurodegeneration Scheme (ATN) in a Real-Life Multicenter Cohort of General Neurological Centers". Journal of Alzheimer's Disease (2022): 1-14. http://dx.doi.org/10.3233/jad-220587.
    10.3233/jad-220587
  20. Santos, Ernestina; Moura, João; Samões, Raquel; Sousa, Ana Paula; Mendonça, Teresa; Abreu, Pedro; Guimarães, Joana; et al. "Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups". (2022):
    10.1016/j.msard.2022.103845
  21. Tábuas-Pereira, Miguel; Durães, João; Beato-Coelho, José; Rita Nogueira, Ana; Duro, Diana; Baldeiras, Inês; Santana, Isabel. "Lewy body dementia is associated with an increased risk of atrial fibrillation: A case-control study". Journal of Clinical Neuroscience 99 (2022): 62-65. http://dx.doi.org/10.1016/j.jocn.2022.02.038.
    Published • 10.1016/j.jocn.2022.02.038
  22. Miguel Tábuas-Pereira; Isabel Santana; Maria Rosário Almeida; João Durães; Marisa Lima; Diana Duro; Célia Kun-Rodrigues; Jose Bras; Rita Guerreiro. "Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes". European Journal of Neurology (2022): https://doi.org/10.1111/ene.15248.
    10.1111/ene.15248
  23. Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Faustino, Pedro; Simões, Mário R.; Kukull, Walter; Knopman, David S.; Santana, Isabel. "Portuguese version of the CDR plus NACC FTLD: Validation studies". Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 14 1 (2022): http://dx.doi.org/10.1002/dad2.12355.
    10.1002/dad2.12355
  24. Durães, João; Marques, Patricia; Tábuas-Pereira, Miguel; Facas, João; Duro, Diana; Lima, Marisa; Santiago, Beatriz; et al. "Associations between self-reported sleep quality and cerebrospinal fluid biomarkers in Mild Cognitive Impairment and Alzheimer’s disease". Revue Neurologique (2022):
    Accepted
  25. Durães, João. "Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study". Multiple Sclerosis and Related Disorders (2021): http://dx.doi.org/10.1016/j.msard.2021.103258.
    10.1016/j.msard.2021.103258
  26. Anuschka Silva-Spínola; Marisa Lima; Maria João Leitão; João Durães; Miguel Tábuas-Pereira; Maria Rosário Almeida; Isabel Santana; Inês Baldeiras. "Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial Frontotemporal dementia". European Journal of Neurology (2021): https://doi.org/10.1111/ene.15058.
    10.1111/ene.15058
  27. Fernandes, Catarina. "Pediatric Multiple Sclerosis Before the PARADIGMS Study: Nine Years of Experience in a Portuguese Tertiary Center". Sinapse 21 1 (2021): 33-39. http://dx.doi.org/10.46531/sinapse/ao/200062/2021.
    Published • 10.46531/sinapse/ao/200062/2021
  28. Durães, João. "Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study". Neural Regeneration Research 16 5 (2021): 910-910. http://dx.doi.org/10.4103/1673-5374.297082.
    10.4103/1673-5374.297082
  29. Fernandes, Andreia; Tábuas-Pereira, Miguel; Duro, Diana; Lima, Marisa; Gens, Helena; Santiago, Beatriz; Durães, João; et al. "C-reactive protein as a predictor of mild cognitive impairment conversion into Alzheimer's disease dementia". Experimental Gerontology 138 (2020): 111004. http://dx.doi.org/10.1016/j.exger.2020.111004.
    10.1016/j.exger.2020.111004
  30. Durães, João. "Patients with progranulin mutations overlap with the progressive dysexecutive syndrome: towards the definition of a frontoparietal dementia phenotype". Brain Communications 2 2 (2020): http://dx.doi.org/10.1093/braincomms/fcaa126.
    10.1093/braincomms/fcaa126
  31. Pereira, Miguel; Durães, João; Macário, Maria do Carmo. "Two sisters with myoclonus and ataxia". Practical Neurology (2020): practneurol-2019. http://dx.doi.org/10.1136/practneurol-2019-002446.
    10.1136/practneurol-2019-002446
  32. João Durães; Ettore Salsano; Maria do Carmo Macário. "Adult-onset Krabbe disease". Neurology: Clinical Practice (2019): https://doi.org/10.1212/CPJ.0000000000000780.
    10.1212/CPJ.0000000000000780
  33. Durães, João. "Lower CSF Amyloid-Beta1–42 Predicts a Higher Mortality Rate in Frontotemporal Dementia". Diagnostics (2019): http://dx.doi.org/10.3390/diagnostics9040162.
    10.3390/diagnostics9040162
  34. Durães, João. "Increased CSF tau is associated with a higher risk of seizures in patients with Alzheimer's disease". Epilepsy & Behavior (2019): http://dx.doi.org/10.1016/j.yebeh.2019.06.033.
    10.1016/j.yebeh.2019.06.033
  35. João Durães; Inês Coutinho; Angelina Mariano; Argemiro Geraldo; Maria Carmo Macário. "Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma". Multiple Sclerosis Journal 25 7 (2019): 1005-1008. https://doi.org/10.1177/1352458518803724.
    10.1177/1352458518803724
  36. João Durães; Margarida Gonçalo; Lívia Sousa; Maria Carmo Macário. "Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation?". Multiple Sclerosis and Related Disorders 30 (2019): 244-246. https://doi.org/10.1016/j.msard.2019.02.020.
    10.1016/j.msard.2019.02.020
  37. Durães, João. "Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study". Muscle & Nerve (2019): http://dx.doi.org/10.1002/mus.26383.
    10.1002/mus.26383
  38. Marques, P.; Beato-Coelho, J.; Durães, J.; Geraldo, A.. "Ischaemic stroke as the initial manifestation of systemic amyloidosis". BMJ Case Reports 12 6 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85068440997&partnerID=MN8TOARS.
    10.1136/bcr-2018-228979
  39. Louro, P.; Durães, J.; Oliveira, D.; Paiva, S.; Ramos, L.; Macário, M.C.. "Woodhouse–Sakati Syndrome: First report of a Portuguese case". American Journal of Medical Genetics, Part A (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85070263996&partnerID=MN8TOARS.
    10.1002/ajmg.a.61303
  40. Cousyn, L.; Law-Ye, B.; Pyatigorskaya, N.; Debs, R.; Froissart, R.; Piraud, M.; Federico, A.; et al. "Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease". Neurology 93 7 (2019): e647-e652. http://www.scopus.com/inward/record.url?eid=2-s2.0-85071355600&partnerID=MN8TOARS.
    10.1212/WNL.0000000000007943
  41. João Durães; Miguel Tábuas-Pereira; Rui Araújo; Diana Duro; Inês Baldeiras; Beatriz Santiago; Isabel Santana. "The Head Turning Sign in Dementia and Mild Cognitive Impairment: Its Relationship to Cognition, Behavior, and Cerebrospinal Fluid Biomarkers". Dementia and Geriatric Cognitive Disorders 46 1-2 (2018): 42-49. https://doi.org/10.1159%2F000486531.
    10.1159/000486531
  42. Bacalhau M; Simões M; Rocha MC; Hardy SA; Vincent AE; Durães J; Macário MC; et al. "Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.". Neuromuscular disorders : NMD (2017): http://europepmc.org/abstract/med/29398297.
    10.1016/j.nmd.2017.11.006
  43. Gabriel AJ; Almeida MR; Ribeiro MH; Durães J; Tábuas-Pereira M; Pinheiro AC; Pascoal R; Santana I; Baldeiras I. "Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients.". Neuroscience letters (2017): http://europepmc.org/abstract/med/28108398.
    10.1016/j.neulet.2017.01.036
  44. Tomás J; Durães J; Lacerda L; Macário MC. "Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.". BMJ case reports (2015): http://europepmc.org/abstract/med/26396125.
    10.1136/bcr-2015-210625
Thesis / Dissertation
  1. Durães, João. "Neurobiologia na recaída: cocaína e heroína". Master, Universidade de Coimbra Faculdade de Medicina, 2013.

Other

Other output
  1. Mini Linguistic State Examination (MLSE). Lima, M., Martins, C., Tábuas-Pereira, Durães, J., Maruta, C., Vilar, M., & Santana, I. (2024). The Mini Linguistic State Examination (MLSE). Neuropsychological Assessment and Ageing Processes, Faculdade de Psicologia e de Ciências da Educação da Universidade de Coimbra. Coimbra: Portugal.. Estudos de adaptação e validação para a população Portuguesa. Manual de administração.. 2024. Lima, Marisa; Cristina, Martins; Tábuas-Pereira, Miguel; Durães, João; Maruta, Carolina; Vilar, Maria Manuela Pereira; Santana, Isabel.

Oral presentation

Presentation title Event name
Host (Event location)
2024/01 Clinical aspects of polyglutamine-expansion disorders' PhD Programme in Health Sciences
Universidade de Coimbra - Faculdade de Medicina (Portugal)
2023/06 Desafios da co-patologia: Doença de Corpos de Lewy e Doença de Alzheimer 37ª Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Portugal)
2021/10/08 Neuropathology and Neurodegeneration Biomarkers in Mucopolysaccharidosis MPS 360
Centro de Referência para Doenças Hereditárias do Metabolismo do Centro Hospitalar São João (Porto, Portugal)
2021/07 Dementias Masters in Palliative Care
Faculty of Medicine of the University of Coimbra (Coimbra, Portugal)
2021/07 Circadian rhythm disruption: a target for personalized intervention in neurodegenerative dementias 35a Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demências
Grupo de Estudos de Envelhecimento Cerebral e Demências (Portugal)
2021/06 Organic Acidurias SPDM Spring Meeting
Sociedade Portuguesa Doenças Metabólicas (Portugal)
2021/04/07 Clinical diagnosis in Prion Diseases Mestrado em Neurociências Molecular e de Translação
Faculty of Medicine of the University of Coimbra (Coimbra, Portugal)
2020/11 Alterações da substância branca nas Doenças Hereditárias do Metabolismo Curso Doenças Neurometabólicas - Doenças raras / Sintomas Comuns
Sociedade Portuguesa de Neurologia (Portugal)
2020/11 Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study Congresso de Neurologia 2020
Sociedade Portuguesa de Neurologia
2020/11 Autonomic dysfunction in frontotemporal lobar degeneration: clinical and MRI analysis Congresso de Neurologia 2020
Sociedade Portuguesa de Neurologia (Portugal)
2020/05 Blood-brain barrier dysfunction in Alzheimer’s disease is different in female and male patients 6th Congress of European Academy of Neurology
European Academy of Neurology
2019/12 Doenças hereditárias do metabolismo e doença neurológica no adulto XV Curso Básico de Doenças Hereditárias do Metabolismo
Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)
2019/11 Doença do Espectro da Neuromielite Óptica: Registo Multicêntrico Nacional Congresso da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Coimbra, Portugal)
2019/11 Encefalite auto-imune: análise dos biomarcadores de patologia degenerativa no LCR Congresso da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Coimbra, Portugal)
2019/11 Variáveis de LCR predictoras de Pib-PET positivo Congresso da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Coimbra, Portugal)
2019/11 Relação dos biomarcadores de LCR de doença de Alzheimer com distúrbios do sono numa população portuguesa 33ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Cúria, Portugal)
2019/11 Behavioral Variant Frontotemporal Dementia: gender differences in neuropsychiatric symptoms 33ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Cúria, Portugal)
2019/11 Alterações iónicas na Doença de Alzheimer: um estudo exploratório 33ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Cúria, Portugal)
2019/06 Envolvimento do sistema nervoso central nas Doenças Mitocondriais Curso Doenças mitocondriais: uma abordagem multidisciplinar
Sociedade Portuguesa de Doenças Metabólicas (Lisboa, Portugal)
2019/06 Brief cognitive assessment in late-onset Pompe disease British Inherited Metabolic Disorders Group conference
British Inherited Metabolic Disorders Group (Cambridge, United Kingdom)
2019/05 Recognizing Cerebrotendinous Xanthomatosis, X-linked Adrenoleukodystrophy and Niemann-Pick disease type C in an adult patient Neurology Pan-London Calman Teaching Programme
National Hospital for Neurology and Neurosurgery (Londres, United Kingdom)
2019/04 Manifestações Neuropsiquiátricas de Doenças Hereditárias do Metabolismo Curso Red flags em Doenças Hereditárias do Metabolismo
Sociedade Portuguesa de Doenças Metabólicas (Porto, Portugal)
2019/03 Brain magnetic resonance imaging findings in Chronic Progressive External Ophthalmoplegia 15th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Coimbra, Portugal)
2019/03 Mitochondrial protein import genes involvement in Leber’s hereditary optic neuropathy 15th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Coimbra, Portugal)
2019/03 Cerebrospinal fluid Neurofilament light chain levels in Frontotemporal Lobar Degeneration: genetic and phenotypic associations 14th international conference on Alzheimer’s & Parkinson’s Diseases
Kenes Group (Lisboa, Portugal)
2019/02 Cerebrospinal fluid neurofilaments as a tool for the discrimination of Frontotemporal Lobar Degeneration subtypes 2nd meeting of the Society for CSF Analysis and Clinical Neurochemistry
Society for CSF analysis and clinical neurochemistry (Amesterdão, Netherlands)
2019/02 Esclerose múltipla de início em idade pediátrica: 8 anos de experiência num centro terciário 13º congresso da Sociedade Portuguesa de Neuropediatria
Sociedade Portuguesa de Neuropediatria (Coimbra, Portugal)
2018/11 Estudo histológico de músculo na doença mitocondrial em adultos: a sua importância na abordagem diagnóstica inicial Congresso de Neurologia
Sociedade Portuguesa de Neurologia (Porto, Portugal)
2018/11 Heterogeneidade de manifestações clínicas na doença de Gaucher e opções terapêuticas Congresso da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Porto, Portugal)
2018/05 Cefaleia hemicrânia contínua secundária Reunião de primavera
Sociedade Portuguesa de Cefaleias (Fátima, Portugal)
2018/04 Condições e tipos de colheitas processamento, armazenamento e transporte de produtos biológicos. Colheitas SOS Curso Apresentações Neurológicas de Doenças Metabólicas
Sociedade Portuguesa de Doenças Metabólicas (Coimbra, Portugal)
2017/12 Rituximab in Multiple Sclerosis: importance of the dosing regimen 25th annual meeting of the European Charcot Foundation
European Charcot Foundation (Baveno, Italy)
2017/11 Lewy Body dementia is associated with an increased risk of atrial fibrillation Congresso da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Lisboa, Portugal)
2017/11 Aß40 aumenta a capacidade diagnóstica dos biomarcadores de LCR em doentes com hidrocefalia de pressão normal 31ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Lisboa, Portugal)
2017/10 Avaliação da correlação entre fatores cognitivos e comportamentais e biomarcadores de LCR na variante comportamental da demência frontotemporal 31ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Lisboa, Portugal)
2017/05 Scheie syndrome: diagnosis after cardioembolic stroke Mucopolysaccharidosis masterclass
Biomarin (Dubai, United Arab Emirates)
2017/05 Fármacos modificadores da doença na Esclerose Múltipla pediátrica: a experiência dos CHUC Reunião de primavera-verão do Grupo de Estudos de Esclerose Múltipla
Grupo de Estudos de Esclerose Múltipla (Figueira da Foz, Portugal)
2017/03 Brain function in Mucopolysaccharidosis patients Satellite Symposium - 13th International Symposium of the SPDM
Biomarin (Évora, Portugal)
2017/03 Phenotypic heterogeneity with variable Parkinsonism in Gaucher disease 13th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Évora, Portugal)
2017/03 Mild presentation of fragile X-associated tremor/ataxia syndrome in a female premutation carrier 4th International Porto Congress of Multiple Sclerosis
Centro Hospitalar de São João (Porto, Portugal)
2017/03 Quality of life in adult patients with mitochondrial diseases 13th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Évora, Portugal)
2017/03 Leigh Syndrome – Clinical and neuroimagiological correlation in four cases 13th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Évora, Portugal)
2017/03 Late-onset Pompe disease: functional assessment and rehabilitation 13th international symposium of the SPDM
Sociedade Portuguesa de Doenças Metabólicas (Évora, Portugal)
2016/05 Progressão na variante comportamental na Demência Frontotemporal: um papel para os biomarcadores de LCR? Fórum da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Leiria, Portugal)
2016/05 Doença do espectro DFT-DNM associada a mutações patogénicas Fórum da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Leiria, Portugal)
2016/05 Terapêutica com anticolinesterásicos – Avaliação de benefício sintomático na Doença de Alzheimer Fórum da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Leiria, Portugal)
2016/05 Distúrbio do sono REM na fase pré-clínica da Demência com Corpos de Lewy 30ª reunião do Grupo de Estudos de Envelhecimento Cerebral e Demência
Grupo de Estudos de Envelhecimento Cerebral e Demência (Leiria, Portugal)
2016/03 Clinical presentation and predictors of outcome in adult patients with mitochondrial diseases 10th world congress on controversies in neurology
Comtecmed (Lisboa, Portugal)
2015/05 Avaliação fenotípica de portadores e famílias com mutações no gene da progranulina no espectro da Degenerescência Lobar Fronto-Temporal Fórum da Sociedade Portuguesa de Neurologia
Sociedade Portuguesa de Neurologia (Aveiro, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2023/10 - Current Quality of life in Hereditary Spastic Paraplegia: demographic and clinical determinants
Supervisor
 Medicina (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2023/10 - 2023/10 Utilidade da GFAP e NfL séricos na Demência com Corpos de Lewy
Co-supervisor
 Medicina (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2021 - 2022 Clinical Validation of Cognitive Fluctuation Screening Instruments for the Portuguese Population with Dementia
Co-supervisor
Universidade de Coimbra Faculdade de Medicina, Portugal
2019 - 2019 Pediatric multiple sclerosis: descriptive analysis of a Demyelinating Disorders Consultation
Co-supervisor
 Medicina (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal
2017 - 2017 Behavioral Symptoms in the Variants of Primary Progressive Aphasia
Co-supervisor
 Medicina (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/11 - Current Curso Neurologic Presentation of Metabolic Disorders (2023/11)
Congress (Co-organisor)
 Sociedade Portuguesa de Neurologia, Portugal
2023/03 - Current 19.º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas (2023/03)
Symposium (Member of the Organising Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2020/11 - Current Member of the Organizing Committee - Sintomas comuns/Doenças raras Course (2020/11)
Congress (Member of the Organising Committee)
 Sociedade Portuguesa de Neurologia, Portugal
2019/03 - Current Organization of the '15th International Symposium of the SPDM (2019/03)
Symposium (Member of the Organising Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021/06 - 2021/06 Member of the Organizing Committee - SPDM Spring Meeting (2021/06 - 2021/06)
Congress (Member of the Scientific Committee)
 Sociedade Portuguesa de Doenças Metabólicas, Portugal

Association member

Society Organization name Role
2020/01 - Current Biomarkers in Neuropsychiatric disorders: from molecules to diagnosis and intervention - Consórcio CIBB (Center for Innovative Biomedicine and Biotechnology), Universidade de Coimbra PhD Student

Committee member

Activity description
Role 		Institution / Organization
2022 - Current Member of Management Group for the EAN Coordinating Panel on Rare Neurological Diseases
Member
 European Academy of Neurology, Austria
2021/06 - Current Member of the National Working Group - Fatty Acid Beta-Oxidation Disorders
Member
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2020 - Current Secretary of the General Assembly for the Sociedade Portuguesa de Doenças Metabólicas
Other
 Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019 - Current Sub-investigator in the clinical trial: GRADUATE II: Safety and Efficacy Study of Gantenerumab in Participants With Early Alzheimer's Disease [ROCHE]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2018 - Current Sub-investigator in the clinical trial: MARS: A Multicenter, Multinational, Observational Morquio A Registry Study [BIOMARIN]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - Current Sub-investigator in the clinical trial: Pompe Disease Registry [Sanofi Genzyme]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - Current Sub-investigator in the clinical trial: Mucopolysaccharidosis type 1 Disease Registry [Sanofi Genzyme]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2019 - 2021/12 Portuguese Representative of the Resident and Research Fellow Section
Other
 European Academy of Neurology, Austria
2018 - 2021/12 Member of the Comissão Organizadora da Comissão de Internos e Recém-Especialistas em Neurologia
Member
 Sociedade Portuguesa de Neurologia, Portugal
2017 - 2021/12 Member of Management Group for the Scientific Panel Dementia and cognitive disorders
Coordinator
 European Academy of Neurology, Austria
2019 - 2020 Expanded Disability Status Scale Rater in the clinical trial: OPTIMUM: Oral Ponesimod versus Teriflunomide in Relapsing Multiple Sclerosis [ACTELION]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2018 - 2019 Sub-investigator in the clinical trial: CREAD: A study of Crenezumab versus Placebo to evaluate the efficacy and safety in participants with prodromal to mild Alzheimer¿s Disease [ROCHE]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - 2019 Expanded Disability Status Scale Rater in the clinical trial: ASCLEPIOS: Efficacy and safety of Ofatumumab compared to Teriflunomide in patients with relapsing Multiple Sclerosis [NOVARTIS]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - 2019 Expanded Disability Status Scale Rater in the clinical trial: DAYBREAK: A Multi-Site, Open-Label Extension Trial of Oral RPC1063 in Relapsing Multiple Sclerosis [CELGENE]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - 2019 Expanded Disability Status Scale Rater in the clinical trial: ENSEMBLE: Study to Evaluate the Effectiveness and Safety of Ocrelizumab in Participants With Early Stage Relapsing Remitting Multiple Sclerosis [ROCHE]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - 2019 Expanded Disability Status Scale Rater in the clinical trial: ORATORIO: A study of Ocrelizumab in patients with Primary Progressive Multiple Sclerosis [ROCHE]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2016 - 2019 Sub-investigator in the clinical trial: ENGAGE: 221AD301 Phase 3 study of Aducanumab (BIIB037) in early Alzheimer¿s Disease [BIOGEN]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2017 - 2018 Sub-investigator in the clinical trial: DAYBREAK-ALZ: A Study of Lanabecestat (LY3314814) in participants with mild Alzheimer's Disease dementia [Eli Lilly and Company]
Member
 Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Conference scientific committee

Conference name Conference host
2022/02 - 2022/02 Abstract reviewer - 8th Congress of the European Academy of Neurology
2021/11 - 2021/11 Abstract reviewer - Congresso de Neurologia 2021, Portuguese Neurological Society
2020/11 - 2020/11 Chairperson - Expanding the concept of neurometabolic disorders Session, 16th International Symposium of the Portuguese Society for Metabolic Disorders
2019 - 2019 Chairperson, Poster Presentation Session - 15th International Symposium of the SPDM Coimbra, Portugal
2018 - 2018 Abstract reviewer - 4th Congress of the European Academy of Neurology Lisboa, Portugal

Interview (tv / radio show)

Program Topic
2020/12 - 2020/12 Razão de Ser

Journal scientific committee

Journal title (ISSN) Publisher
2022/02 - 2022/02 Acta Neurologica Belgica
2020 - 2020 Neurology: Clinical Practice (2163-0402) Wolters Kluwer
2019 - 2019 Translational Neurodegeneration (2047-9158) Springer (Biomed Central Ltd.)

Award

2023 Prize "Orlando Leitão"
Sociedade Portuguesa de Neurologia, Portugal
2021 Prize for Best Oral Presentation
Grupo de Estudos de Envelhecimento Cerebral e Demência, Portugal
2020 Prize João Lobo Antunes
Santa Casa da Misericórdia de Lisboa, Portugal
2019 Prize "Orlando Leitão"
Sociedade Portuguesa de Neurologia, Portugal
2019 Prize for the best poster communication - 15th International SPDM Symposium
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2017 Clinical Fellowship Grant
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2016 Prize "António Flores"
Sociedade Portuguesa de Neurologia, Portugal
2013 Prize to the 3% best students of the year 2012/2013
Universidade de Coimbra Faculdade de Medicina, Portugal