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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.
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
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.
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.
27 results