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A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly.
Figueiredo F, Lopes-Marques M, Almeida B, Matscheko N, Martins PM, Silva A, Macedo-Ribeiro S. Figueiredo F, et al. Among authors: lopes marques m. Cells. 2022 Jun 19;11(12):1969. doi: 10.3390/cells11121969. Cells. 2022. PMID: 35741099 Free PMC article.
Essential genetic findings in neurodevelopmental disorders.
Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L. Cardoso AR, et al. Hum Genomics. 2019 Jul 9;13(1):31. doi: 10.1186/s40246-019-0216-4. Hum Genomics. 2019. PMID: 31288856 Free PMC article. Review.
SLC35A2-CDG: Novel variant and review.
Quelhas D, Correia J, Jaeken J, Azevedo L, Lopes-Marques M, Bandeira A, Keldermans L, Matthijs G, Sturiale L, Martins E. Quelhas D, et al. Mol Genet Metab Rep. 2021 Jan 30;26:100717. doi: 10.1016/j.ymgmr.2021.100717. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552911 Free PMC article.
Compensatory epistasis explored by molecular dynamics simulations.
Serrano C, Teixeira CSS, Cooper DN, Carneiro J, Lopes-Marques M, Stenson PD, Amorim A, Prata MJ, Sousa SF, Azevedo L. Serrano C, et al. Hum Genet. 2021 Sep;140(9):1329-1342. doi: 10.1007/s00439-021-02307-x. Epub 2021 Jun 26. Hum Genet. 2021. PMID: 34173867
Assessing the effects of PMM2 variants on protein stability.
Quelhas D, Carneiro J, Lopes-Marques M, Jaeken J, Martins E, Rocha JF, Teixeira Carla SS, Ferreira CR, Sousa SF, Azevedo L. Quelhas D, et al. Among authors: lopes marques m. Mol Genet Metab. 2021 Dec;134(4):344-352. doi: 10.1016/j.ymgme.2021.11.002. Epub 2021 Nov 8. Mol Genet Metab. 2021. PMID: 34863624
40 results