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Early-onset phenotype of bi-allelic GRN mutations.
Neuray C, Sultan T, Alvi JR, Franca MC, Assmann B, Wagner M, Canafoglia L, Franceschetti S, Rossi G, Santana I, Macario MC, Almeida MR, Kamate M, Parikh S, Elloumi HZ, Murphy D, Efthymiou S, Maroofian R, Houlden H. Neuray C, et al. Among authors: macario mc. Brain. 2021 Mar 3;144(2):e22. doi: 10.1093/brain/awaa414. Brain. 2021. PMID: 33351065 No abstract available.
Adult-onset methylenetetrahydrofolate reductase deficiency.
Vieira D, Florindo C, Tavares de Almeida I, Macário MC. Vieira D, et al. Among authors: macario mc. BMJ Case Rep. 2020 Mar 10;13(3):e232241. doi: 10.1136/bcr-2019-232241. BMJ Case Rep. 2020. PMID: 32161077 Free PMC article.
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
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
27 results