Alves S - Search Results

1

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

Encarnação M, David H, Coutinho MF, Moreira L, Alves S. Encarnação M, et al. Among authors: alves s. Biomedicines. 2023 Sep 23;11(10):2615. doi: 10.3390/biomedicines11102615. Biomedicines. 2023. PMID: 37892989 Free PMC article. Review.

2

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Among authors: alves s. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

3

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125

4

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1. Clin Genet. 2012. PMID: 21214877

5

Glycosaminoglycan storage disorders: a review.

Coutinho MF, Lacerda L, Alves S. Coutinho MF, et al. Among authors: alves s. Biochem Res Int. 2012;2012:471325. doi: 10.1155/2012/471325. Epub 2011 Oct 5. Biochem Res Int. 2012. PMID: 22013531 Free PMC article.

6

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

Coutinho MF, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. 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.

7

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Coutinho MF, Santos Lda S, Girisha KM, Satyamoorthy K, Lacerda L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495880 No abstract available.

8

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

Coutinho MF, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. 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.

9

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Coutinho MF, da Silva Santos L, Lacerda L, Quental S, Wibrand F, Lund AM, Johansen KB, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. JIMD Rep. 2012;4:117-24. doi: 10.1007/8904_2011_83. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430906 Free PMC article.

10

Sortilin and the risk of cardiovascular disease.

Coutinho MF, Bourbon M, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. 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.

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