Maria J. Prata - Search Results

Year	Number of Results
2002	2
2003	1
2005	2
2007	4
2008	2
2009	4
2010	6
2011	6
2012	5
2013	3
2014	5
2015	7
2016	3
2017	2
2018	1
2019	3
2020	4
2021	5
2022	3
2023	1
2024	1

1

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. Among authors: prata mj. Hum Genomics. 2019 Jul 9;13(1):31. doi: 10.1186/s40246-019-0216-4. Hum Genomics. 2019. PMID: 31288856 Free PMC article. Review.

2

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

Coutinho MF, Prata MJ, Alves S. Coutinho MF, et al. Mol Genet Metab. 2012 Nov;107(3):257-66. doi: 10.1016/j.ymgme.2012.07.012. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22884962 Review.

3

Sortilin and the risk of cardiovascular disease.

Coutinho MF, Bourbon M, Prata MJ, Alves S. Coutinho MF, et al. Rev Port Cardiol. 2013 Oct;32(10):793-9. doi: 10.1016/j.repc.2013.02.006. Epub 2013 Jul 31. Rev Port Cardiol. 2013. PMID: 23910371 Free article. Review. English, Portuguese.

4

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Cardoso AR, Lopes-Marques M, Oliveira M, Amorim A, Prata MJ, Azevedo L. Cardoso AR, et al. Among authors: prata mj. Genes (Basel). 2021 Nov 19;12(11):1827. doi: 10.3390/genes12111827. Genes (Basel). 2021. PMID: 34828433 Free PMC article. Review.

5

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.

Santos JI, Gonçalves M, Matos L, Moreira L, Carvalho S, Prata MJ, Coutinho MF, Alves S. Santos JI, et al. Life (Basel). 2022 Apr 19;12(5):608. doi: 10.3390/life12050608. Life (Basel). 2022. PMID: 35629276 Free PMC article. Review.

6

Evolutionary dynamics of the human pseudoautosomal regions.

Monteiro B, Arenas M, Prata MJ, Amorim A. Monteiro B, et al. PLoS Genet. 2021 Apr 19;17(4):e1009532. doi: 10.1371/journal.pgen.1009532. eCollection 2021 Apr. PLoS Genet. 2021. PMID: 33872316 Free PMC article.

7

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. Among authors: prata mj. Hum Genet. 2021 Sep;140(9):1329-1342. doi: 10.1007/s00439-021-02307-x. Epub 2021 Jun 26. Hum Genet. 2021. PMID: 34173867

8

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.

Coutinho MF, Prata MJ, Alves S. Coutinho MF, et al. Mol Genet Metab. 2012 Apr;105(4):542-50. doi: 10.1016/j.ymgme.2011.12.012. Epub 2011 Dec 23. Mol Genet Metab. 2012. PMID: 22266136 Review.

9

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.

Coutinho MF, Santos JI, S Mendonça L, Matos L, Prata MJ, S Jurado A, Pedroso de Lima MC, Alves S. Coutinho MF, et al. Int J Mol Sci. 2020 Aug 10;21(16):5732. doi: 10.3390/ijms21165732. Int J Mol Sci. 2020. PMID: 32785133 Free PMC article. Review.

10

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Lopes-Marques M, Pacheco AR, Peixoto MJ, Cardoso AR, Serrano C, Amorim A, Prata MJ, Cooper DN, Azevedo L. Lopes-Marques M, et al. Hum Mutat. 2021 Aug;42(8):978-989. doi: 10.1002/humu.24221. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34015158 Free PMC article.

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