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SERAC1 Deficiency- A New Phenotype.
Martins E, Durães J, Nogueira C, Gomes J, Vilarinho L, Macário C. Martins E, et al. Among authors: duraes j. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114456. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711114
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, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y. Cousyn L, et al. Among authors: duraes j. Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23. Neurology. 2019. PMID: 31337714
Woodhouse-Sakati Syndrome: First report of a Portuguese case.
Louro P, Durães J, Oliveira D, Paiva S, Ramos L, Macário MC. Louro P, et al. Among authors: duraes j. Am J Med Genet A. 2019 Nov;179(11):2237-2240. doi: 10.1002/ajmg.a.61303. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31347785
Patients with progranulin mutations overlap with the progressive dysexecutive syndrome: towards the definition of a frontoparietal dementia phenotype.
Tábuas-Pereira M, Almeida MR, Duro D, Lima M, Durães J, Guerreiro R, Brás J, Baldeiras I, Santana I. Tábuas-Pereira M, et al. Among authors: duraes j. Brain Commun. 2020 Nov 5;2(2):fcaa126. doi: 10.1093/braincomms/fcaa126. eCollection 2020. Brain Commun. 2020. PMID: 33216842 Free PMC article. No abstract available.
61 results