João Luís Oliveira Durães

Disease-modifying effects of <i>TMEM106B</i> in genetic frontotemporal dementia: a longitudinal GENFI study

Mirza, Saira S; Pasternak, Maurice; Paterson, Andrew D; Rogaeva, Ekaterina; Tartaglia, Maria C; Mitchell, Sara B; Black, Sandra E; et al, Brain. 2746 - 2762. 8. 148. 2025. https://doi.org/10.1093/brain/awaf019 . 10.1093/brain/awaf019 . Brain

Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan

Planche, Vincent; Mansencal, Boris; Fonov, Vladimir; Manjon, José V; Tourdias, Thomas; Bouzigues, Arabella; Russell, Lucy L; et al, Brain. 3880 - 3892. 11. 148. 2025. https://doi.org/10.1093/brain/awaf195 . 10.1093/brain/awaf195 . Brain

Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome

Alves, José Miguel; Machado, Rita; Macário, Maria Carmo; Durães, João, Parkinsonism &amp; Related Disorders. 139. 2025. https://doi.org/10.1016/j.parkreldis.2025.108011 . 10.1016/j.parkreldis.2025.108011 . Parkinsonism &amp; Related Disorders

Executive Function Deficits in Genetic Frontotemporal Dementia

Russell, Lucy Louise; Bouzigues, Arabella; Convery, Rhian S.; Foster, Phoebe H.; Ferry-Bolder, Eve; Cash, David M.; Van Swieten, John C.; et al, Neurology Genetics. 4. 11. 2025. https://doi.org/10.1212/nxg.0000000000200248 . 10.1212/nxg.0000000000200248 . Neurology Genetics

The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

Silva, Patrick; Costa, Marina A.; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; et al, CNS Drugs. 233 - 246. 2. 40. 2025. https://doi.org/10.1007/s40263-025-01237-w . 10.1007/s40263-025-01237-w . CNS Drugs

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Lee, Anja; Bliksrud, Yngve Thomas; Onali, Michela; Neugebauer, Julia; Eyskens, Francois; Haas, Dorothea; Mossler, Karin; et al, Journal of Inherited Metabolic Disease. 6. 48. 2025. https://doi.org/10.1002/jimd.70095 . 10.1002/jimd.70095 . Journal of Inherited Metabolic Disease

Hyperactive Otolith-Ocular Reflex During Heat Tilt (Rabbit’s Eye Sign) In Anti-Ma2 Rhombencephalitis

Lemos, João; Matos, Sara; Martins, Ana Inês; Durães, João; Dionísio, Alexandre; Machado, Egídio; Jorge, André, The Cerebellum. 6. 24. 2025. https://doi.org/10.1007/s12311-025-01922-y . 10.1007/s12311-025-01922-y . The Cerebellum

Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study

Soskic, Sonja; Tregidgo, Henry F J; Todd, Emily G; Bouzigues, Arabella; Cash, David M; Russell, Lucy L; Thomas, David L; et al, Brain Communications. 6. 7. 2025. https://doi.org/10.1093/braincomms/fcaf420 . 10.1093/braincomms/fcaf420 . Brain Communications

Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia

Tsvetanov, Kamen A; Malpetti, Maura; Jones, P Simon; Rittman, Timothy; Whiteside, David J; Murley, Alexander G; Bethlehem, Richard; et al, Brain. 2025. https://doi.org/10.1093/brain/awaf443 . 10.1093/brain/awaf443 . Brain

Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia

Kancheva, Ivana Kirilova; Bouzigues, Arabella; Russell, Lucy Louise; Foster, Phoebe H.; Ferry-Bolder, Eve; Van Swieten, John C.; Jiskoot, Lize Corrine; et al, Neurology. 6. 105. 2025. https://doi.org/10.1212/wnl.0000000000213677 . 10.1212/wnl.0000000000213677 . 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

Towards a neurocognitive profile in familial cerebral cavernous malformations

Cristiana Silva; João Durães; Marisa Lima; Daniela Jardim Pereira; Isabel Santana; Maria Rosário Almeida, Acta Neurologica Belgica. 2024. https://doi.org/10.1007/s13760-023-02314-x . 10.1007/s13760-023-02314-x . Acta Neurologica Belgica

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 &amp; Related Disorders. 2024. http://dx.doi.org/10.1016/j.parkreldis.2024.106069 . 10.1016/j.parkreldis.2024.106069 . published Parkinsonism &amp; Related Disorders

Perceived discrepancies in neurosonology training and certification across Europe: a RRFS/EAN survey

Tiu, Vlad; Durães, João; Di Lorenzo, Francesco; Vashchenko, Nina; Gonzalez-Martinez, Alicia; Accorroni, Alice; Carvalho, Vanessa; Sferruzza, Giacomo; Cuffaro, Luca, Frontiers in Neurology. 15. 2024. https://doi.org/10.3389/fneur.2024.1464946 . 10.3389/fneur.2024.1464946 . Frontiers in Neurology

Progressive tetraparesis and bulbar symptoms

Cunha, Carolina; Coimbra de Lemos Queirós, Henrique; Almeida, Marco; Pereira, Daniela; Freixo, João Parente; Marques, Patrícia; Matias, Fernando; Durães, João, Practical Neurology. pn - 2024. 2024. https://doi.org/10.1136/pn-2024-004394 . 10.1136/pn-2024-004394 . Practical Neurology

Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia

Borrego-Ecija, Sergi; Juncà-Parella, Jordi; Vandebergh, Marijne; Pérez Millan, Agnès; Balasa, Mircea; Llado, Albert; Bouzigues, Arabella; et al, Neurology. 11. 103. 2024. https://doi.org/10.1212/wnl.0000000000209944 . 10.1212/wnl.0000000000209944 . Neurology

Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia

Schönecker, Sonja; Martinez-Murcia, Francisco J.; Denecke, Jannis; Franzmeier, Nicolai; Danek, Adrian; Wagemann, Olivia; Prix, Catharina; et al, Neurology. 8. 103. 2024. https://doi.org/10.1212/wnl.0000000000209569 . 10.1212/wnl.0000000000209569 . Neurology

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

Tábuas-Pereira, Miguel; Bernardes, Catarina; Durães, João; Lima, Marisa; Nogueira, Ana Rita; Saraiva, Jorge; Tábuas, Teresa; et al, Journal of Neurology. 6983 - 6990. 10. 271. 2024. https://doi.org/10.1007/s00415-024-12673-x . 10.1007/s00415-024-12673-x . published Journal of Neurology

Montreal Cognitive Assessment in Mild Cognitive Impairment: Relationship with Cerebrospinal Fluid Biomarkers and Conversion to Dementia

Bernardes, Catarina; Lima, Marisa; Duro, Diana; Silva-Spínola, Anuschka; Durães, João; Tábuas-Pereira, Miguel; Baldeiras, Inês; Freitas, Sandra; Santana, Isabel, Journal of Alzheimer's Disease. 1173 - 1182. 3. 96. 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://doi.org/10.3390/ijms25010511 . 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-Spínola; Marisa Lima; Maria João Leitão; Catarina Bernardes; João Durães; Diana Duro; Miguel Tábuas-Pereira; Isabel Santana; Inês Baldeiras, European Journal of Neurology. 2023. https://doi.org/10.1111/ene.15762 . 10.1111/ene.15762 . European Journal of Neurology

Neuropsychological Assessment in the Distinction Between Biomarker Defined Frontal-Variant of Alzheimer’s Disease and Behavioral-Variant of Frontotemporal Dementia

Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Vieira, Daniela; Faustino, Pedro; Baldeiras, Inês; Santana, Isabel, Journal of Alzheimer's Disease. 1303 - 1312. 4. 91. 2023. http://dx.doi.org/10.3233/jad-220897 . 10.3233/jad-220897 . Journal of Alzheimer's Disease

Altered plasma protein profiles in genetic FTD – a GENFI study

Ullgren, Abbe; Öijerstedt, Linn; Olofsson, Jennie; Bergström, Sofia; Remnestål, Julia; van Swieten, John C.; Jiskoot, Lize C.; et al, Molecular Neurodegeneration. 1. 18. 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

Bateman, Randall J.; Smith, Janice; Donohue, Michael C.; Delmar, Paul; Abbas, Rachid; Salloway, Stephen; Wojtowicz, Jakub; et al, New England Journal of Medicine. 1862 - 1876. 20. 389. 2023. http://dx.doi.org/10.1056/nejmoa2304430 . 10.1056/nejmoa2304430 . New England Journal of Medicine

Serum Neurofilament Light Chain in the Diagnostic Evaluation of Patients with Cognitive Symptoms in the Neurological Consultation of a Tertiary Center

Lopes das Neves, Pedro; Durães, João; Silva-Spinola, Anuschka; Lima, Marisa; Leitão, Maria João; Tábuas-Pereira, Miguel; Santana, Isabel; Baldeiras, Inês, Journal of Alzheimer's Disease. 391 - 397. 2. 95. 2023. http://dx.doi.org/10.3233/jad-221208 . 10.3233/jad-221208 . Journal of Alzheimer's Disease

Physical activity and exercise for the prevention and management of mild cognitive impairment and dementia: a collaborative international guideline

Veronese, Nicola; Soysal, Pinar; Demurtas, Jacopo; Solmi, Marco; Bruyère, Olivier; Christodoulou, Nikos; Ramalho, Rodrigo; et al, European Geriatric Medicine. 925 - 952. 5. 14. 2023. http://dx.doi.org/10.1007/s41999-023-00858-y . 10.1007/s41999-023-00858-y . European Geriatric Medicine

Sequential and combined central retinal artery occlusion and anterior ischemic optic neuropathy in Fabry’s disease

Sobral-Pinho, André; Jorge, André; Fonseca, Pedro; Sargento-Freitas, João; Durães, João; Martins, Ana Inês; Macário, Maria Carmo; Lemos, João, Journal of Neurology. 4103 - 4106. 8. 270. 2023. http://dx.doi.org/10.1007/s00415-023-11734-x . 10.1007/s00415-023-11734-x . Journal of Neurology

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

Klockgether, Thomas; Synofzik, Matthis; Alhusaini, Saud; Anheim, Mathieu; Antonijevic, Irina; Ashizawa, Tee; Bataller, Luis; et al, The Cerebellum. 2023. http://dx.doi.org/10.1007/s12311-023-01547-z . 10.1007/s12311-023-01547-z . The Cerebellum

Predicting progression of Mild Cognitive Impairment patients through four distinctive groups obtained by a dimensionality reduction algorithm

Silva-Spínola, Anuschka; Leitão, Maria João; Lima, Marisa; Bernardes, Catarina; Duro, Diana; Regueira, Patrícia; Tábuas-Pereira, Miguel; et al, Alzheimer's &amp; Dementia. S15. 19. 2023. http://dx.doi.org/10.1002/alz.073665 . 10.1002/alz.073665 . Alzheimer's &amp; Dementia

SERAC1 Deficiency- A New Phenotype

Martins, Emanuel; Durães, João; Nogueira, Célia; Gomes, João; Vilarinho, Laura; Macário, Carmo, Endocrine, Metabolic &amp; Immune Disorders - Drug Targets. 23. 2023. http://dx.doi.org/10.2174/1871530323666230914114456 . 10.2174/1871530323666230914114456 . Endocrine, Metabolic &amp; Immune Disorders - Drug Targets

It’s Never Too Late for a Diagnosis

Coelho, Mariana; Durães, João; Freixo, João; Tomás, José; Macário, Carmo, Endocrine, Metabolic &amp; Immune Disorders - Drug Targets. 23. 2023. http://dx.doi.org/10.2174/0118715303280103231006102831 . 10.2174/0118715303280103231006102831 . Endocrine, Metabolic &amp; Immune Disorders - Drug Targets

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

Benzoni, Chiara; Moscatelli, Marco; Farina, Laura; Magri, Stefania; Ciano, Claudia; Scaioli, Vidmer; Alverà, Sara; et al, Journal of Neurology. 4219 - 4234. 9. 270. 2023. http://dx.doi.org/10.1007/s00415-023-11762-7 . 10.1007/s00415-023-11762-7 . Journal of Neurology

Lewy body dementia is associated with an increased risk of atrial fibrillation: A case-control study

Tábuas-Pereira, Miguel; Durães, João; Beato-Coelho, José; Rita Nogueira, Ana; Duro, Diana; Baldeiras, Inês; Santana, Isabel, Journal of Clinical Neuroscience. 62 - 65. 99. 2022. http://dx.doi.org/10.1016/j.jocn.2022.02.038 . 10.1016/j.jocn.2022.02.038 . published Journal of Clinical Neuroscience

Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

Pérez-Millan, Agnès; Borrego-Écija, Sergi; van Swieten, John C.; Jiskoot, Lize; Moreno, Fermin; Laforce, Robert; Graff, Caroline; et al, Journal of Neurology. 1573 - 1586. 3. 270. 2022. http://dx.doi.org/10.1007/s00415-022-11435-x . 10.1007/s00415-022-11435-x . Journal of Neurology

Portuguese version of the CDR plus NACC FTLD: Validation studies

Lima, Marisa; Tábuas-Pereira, Miguel; Durães, João; Faustino, Pedro; Simões, Mário R.; Kukull, Walter; Knopman, David S.; Santana, Isabel, Alzheimer's &amp; Dementia: Diagnosis, Assessment &amp; Disease Monitoring. 1. 14. 2022. http://dx.doi.org/10.1002/dad2.12355 . 10.1002/dad2.12355 . Alzheimer's &amp; Dementia: Diagnosis, Assessment &amp; Disease Monitoring

Alzheimer’s Disease Diagnosis Based on the Amyloid, Tau, and Neurodegeneration Scheme (ATN) in a Real-Life Multicenter Cohort of General Neurological Centers

Baldeiras, Inês; Silva-Spínola, Anuschka; Lima, Marisa; Leitão, Maria João; Durães, João; Vieira, Daniela; Tbuas-Pereira, Miguel; et al, Journal of Alzheimer's Disease. 1 - 14. 2022. http://dx.doi.org/10.3233/jad-220587 . 10.3233/jad-220587 . Journal of Alzheimer's Disease

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

Miguel Tábuas-Pereira; Isabel Santana; Maria Rosário Almeida; João Durães; Marisa Lima; Diana Duro; Célia Kun-Rodrigues; Jose Bras; Rita Guerreiro, European Journal of Neurology. 2022. https://doi.org/10.1111/ene.15248 . 10.1111/ene.15248 . European Journal of Neurology

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

Durães, João, Neural Regeneration Research. 910 - 910. 5. 16. 2021. http://dx.doi.org/10.4103/1673-5374.297082 . 10.4103/1673-5374.297082 . Neural Regeneration Research

Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study

Durães, João, Multiple Sclerosis and Related Disorders. 2021. http://dx.doi.org/10.1016/j.msard.2021.103258 . 10.1016/j.msard.2021.103258 . Multiple Sclerosis and Related Disorders

Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial Frontotemporal dementia

Anuschka Silva-Spínola; Marisa Lima; Maria João Leitão; João Durães; Miguel Tábuas-Pereira; Maria Rosário Almeida; Isabel Santana; Inês Baldeiras, European Journal of Neurology. 2021. https://doi.org/10.1111/ene.15058 . 10.1111/ene.15058 . European Journal of Neurology

Pediatric Multiple Sclerosis Before the PARADIGMS Study: Nine Years of Experience in a Portuguese Tertiary Center

Fernandes, Catarina, Sinapse. 33 - 39. 1. 21. 2021. http://dx.doi.org/10.46531/sinapse/ao/200062/2021 . 10.46531/sinapse/ao/200062/2021 . published Sinapse

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

Durães, João, Brain Communications. 2. 2. 2020. http://dx.doi.org/10.1093/braincomms/fcaa126 . 10.1093/braincomms/fcaa126 . Brain Communications

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. 138. 2020. http://dx.doi.org/10.1016/j.exger.2020.111004 . 10.1016/j.exger.2020.111004 . Experimental Gerontology

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

Increased CSF tau is associated with a higher risk of seizures in patients with Alzheimer's disease

Durães, João, Epilepsy & Behavior. 2019. http://dx.doi.org/10.1016/j.yebeh.2019.06.033 . 10.1016/j.yebeh.2019.06.033 . Epilepsy & Behavior

Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma

João Durães; Inês Coutinho; Angelina Mariano; Argemiro Geraldo; Maria Carmo Macário, Multiple Sclerosis Journal. 1005 - 1008. 7. 25. 2019. https://doi.org/10.1177/1352458518803724 . 10.1177/1352458518803724 . Multiple Sclerosis Journal

Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation?

João Durães; Margarida Gonçalo; Lívia Sousa; Maria Carmo Macário, Multiple Sclerosis and Related Disorders. 244 - 246. 30. 2019. https://doi.org/10.1016/j.msard.2019.02.020 . 10.1016/j.msard.2019.02.020 . Multiple Sclerosis and Related Disorders

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

Durães, João, Muscle & Nerve. 2019. http://dx.doi.org/10.1002/mus.26383 . 10.1002/mus.26383 . Muscle & Nerve

Ischaemic stroke as the initial manifestation of systemic amyloidosis

Marques, P.; Beato-Coelho, J.; Durães, J.; Geraldo, A., BMJ Case Reports. 6. 12. 2019. http://www.scopus.com/inward/record.url?eid=2-s2.0-85068440997&partnerID=MN8TOARS . 10.1136/bcr-2018-228979 . BMJ Case Reports

Woodhouse–Sakati Syndrome: First report of a Portuguese case

Louro, P.; Durães, J.; Oliveira, D.; Paiva, S.; Ramos, L.; Macário, M.C., 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 . American Journal of Medical Genetics, Part A

Lower CSF Amyloid-Beta1–42 Predicts a Higher Mortality Rate in Frontotemporal Dementia

Durães, João, Diagnostics. 2019. http://dx.doi.org/10.3390/diagnostics9040162 . 10.3390/diagnostics9040162 . Diagnostics

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease

Cousyn, L.; Law-Ye, B.; Pyatigorskaya, N.; Debs, R.; Froissart, R.; Piraud, M.; Federico, A.; et al, Neurology. e647 - e652. 7. 93. 2019. http://www.scopus.com/inward/record.url?eid=2-s2.0-85071355600&partnerID=MN8TOARS . 10.1212/WNL.0000000000007943 . Neurology

Adult-onset Krabbe disease

João Durães; Ettore Salsano; Maria do Carmo Macário, Neurology: Clinical Practice. 2019. https://doi.org/10.1212/CPJ.0000000000000780 . 10.1212/CPJ.0000000000000780 . Neurology: Clinical Practice

The Head Turning Sign in Dementia and Mild Cognitive Impairment: Its Relationship to Cognition, Behavior, and Cerebrospinal Fluid Biomarkers

João Durães; Miguel Tábuas-Pereira; Rui Araújo; Diana Duro; Inês Baldeiras; Beatriz Santiago; Isabel Santana, Dementia and Geriatric Cognitive Disorders. 42 - 49. 1-2. 46. 2018. https://doi.org/10.1159%2F000486531 . 10.1159/000486531 . Dementia and Geriatric Cognitive Disorders

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.

Bacalhau M; Simões M; Rocha MC; Hardy SA; Vincent AE; Durães J; Macário MC; et al, Neuromuscular disorders : NMD. 2017. http://europepmc.org/abstract/med/29398297 . 10.1016/j.nmd.2017.11.006 . Neuromuscular disorders : NMD

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

Gabriel AJ; Almeida MR; Ribeiro MH; Durães J; Tábuas-Pereira M; Pinheiro AC; Pascoal R; Santana I; Baldeiras I, Neuroscience letters. 2017. http://europepmc.org/abstract/med/28108398 . 10.1016/j.neulet.2017.01.036 . Neuroscience letters

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.

Tomás J; Durães J; Lacerda L; Macário MC, BMJ case reports. 2015. http://europepmc.org/abstract/med/26396125 . 10.1136/bcr-2015-210625 . BMJ case reports