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Page 1
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, Macario MDC, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Pavlovic A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Santos M, Guven G, Bilgic B, Bras J, Beule D, Dirnagl U, Guerreiro R, Sassi C. Foddis M, et al. Among authors: macario mdc. Neurobiol Aging. 2023 Mar;123:208-215. doi: 10.1016/j.neurobiolaging.2022.11.013. Epub 2022 Nov 26. Neurobiol Aging. 2023. PMID: 36586737
Two sisters with myoclonus and ataxia.
Pereira M, Durães J, Macário MDC. Pereira M, et al. Among authors: macario mdc. Pract Neurol. 2020 May;20(3):249-252. doi: 10.1136/practneurol-2019-002446. Epub 2020 Mar 11. Pract Neurol. 2020. PMID: 32161095 No abstract available.
Posttranslational modifications of proteins are key features in the identification of CSF biomarkers of multiple sclerosis.
Salazar IL, Lourenço AST, Manadas B, Baldeiras I, Ferreira C, Teixeira AC, Mendes VM, Novo AM, Machado R, Batista S, Macário MDC, Grãos M, Sousa L, Saraiva MJ, Pais AACC, Duarte CB. Salazar IL, et al. Among authors: macario mdc. J Neuroinflammation. 2022 Feb 8;19(1):44. doi: 10.1186/s12974-022-02404-2. J Neuroinflammation. 2022. PMID: 35135578 Free PMC article.