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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, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: macario mc. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.
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: macario mc. 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: macario mc. 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
The effectiveness of fingolimod in a Portuguese real-world population.
Correia I, Batista S, Marques IB, Sousa M, Ferreira R, Nunes C, Macário MC, Sousa L. Correia I, et al. Among authors: macario mc. Mult Scler Relat Disord. 2016 Mar;6:41-48. doi: 10.1016/j.msard.2016.01.003. Epub 2016 Jan 12. Mult Scler Relat Disord. 2016. PMID: 27063621 Clinical Trial.
Long-term effectiveness and safety of natalizumab in a Portuguese population.
Correia I, Batista S, Galego O, Marques IB, Jesus-Ribeiro J, Martins AI, Nunes C, Macário MC, Cunha L, Sousa L. Correia I, et al. Among authors: macario mc. Int Immunopharmacol. 2017 May;46:105-111. doi: 10.1016/j.intimp.2017.03.006. Epub 2017 Mar 7. Int Immunopharmacol. 2017. PMID: 28282574
27 results