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12 results

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Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
de Souza GC, Malta MC, Santos MRS, Fontes MÍB, de Sousa Anjos JL, Ribeiro DP, Kok F, Figueiredo T. de Souza GC, et al. Among authors: figueiredo t. Neurol Sci. 2024 Jun;45(6):2705-2710. doi: 10.1007/s10072-023-07271-0. Epub 2023 Dec 30. Neurol Sci. 2024. PMID: 38159148
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Caires-Júnior LC, et al. Among authors: figueiredo t. Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9. Nat Commun. 2018. PMID: 29396410 Free PMC article.
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
Oliveira D, Morales-Vicente DA, Amaral MS, Luz L, Sertié AL, Leite FS, Navarro C, Kaid C, Esposito J, Goulart E, Caires L, Alves LM, Melo US, Figueiredo T, Mitne-Neto M, Okamoto OK, Verjovski-Almeida S, Zatz M. Oliveira D, et al. Among authors: figueiredo t. Hum Mol Genet. 2020 Jun 3;29(9):1465-1475. doi: 10.1093/hmg/ddaa069. Hum Mol Genet. 2020. PMID: 32280986
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: figueiredo t. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR. Madeira JL, et al. Among authors: figueiredo t. Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4. Clin Endocrinol (Oxf). 2017. PMID: 28734020
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