Ribeiro D - Search Results

1

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S. Encarnação M, et al. Among authors: ribeiro d. Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355. Int J Mol Sci. 2020. PMID: 32883051 Free PMC article.

2

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.

Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S. Matos L, et al. Among authors: ribeiro d. Genes (Basel). 2018 Sep 11;9(9):455. doi: 10.3390/genes9090455. Genes (Basel). 2018. PMID: 30208654 Free PMC article.

3

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

Duarte AJ, Ribeiro D, Moreira L, Amaral O. Duarte AJ, et al. Among authors: ribeiro d. Int J Mol Sci. 2018 Oct 31;19(11):3409. doi: 10.3390/ijms19113409. Int J Mol Sci. 2018. PMID: 30384423 Free PMC article.

4

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S. Coutinho MF, et al. Among authors: ribeiro d. Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058. Diagnostics (Basel). 2020. PMID: 31973102 Free PMC article.

5

Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

Fonseca H, Ribeiro D, Guimarães F, Pinto C, Marcão A, Sousa C, Carvalho I, Lopes L, Rodrigues D, Rocha H, Vilarinho L. Fonseca H, et al. Among authors: ribeiro d. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122955. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711122

6

Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses.

Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Diogo L, Ferreira S, Santos C, Martins E, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenção Oliveira JM, Prata MJ, Santos M, Alves S, Coutinho MF. Carvalho S, et al. Among authors: ribeiro m, ribeiro d, ribeiro pinho b. Endocr Metab Immune Disord Drug Targets. 2023 Nov 2. doi: 10.2174/0118715303277318231024055425. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37937567

7

Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.

Duarte AJ, Ribeiro D, Santos R, Moreira L, Bragança J, Amaral O. Duarte AJ, et al. Among authors: ribeiro d. Stem Cell Res. 2020 May;45:101794. doi: 10.1016/j.scr.2020.101794. Epub 2020 Apr 20. Stem Cell Res. 2020. PMID: 32388441 Free article.

8

Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.

Ribeiro D, Duarte AJ, Amaral O. Ribeiro D, et al. Genet Test Mol Biomarkers. 2011 Mar;15(3):123-6. doi: 10.1089/gtmb.2010.0129. Epub 2011 Jan 4. Genet Test Mol Biomarkers. 2011. PMID: 21204700

9

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

Duarte AJ, Ribeiro D, Oliveira P, Amaral O. Duarte AJ, et al. Among authors: ribeiro d. Arch Med Res. 2017 Apr;48(3):263-269. doi: 10.1016/j.arcmed.2017.04.001. Arch Med Res. 2017. PMID: 28923328

10

CHIT1 genetic defects in the Portuguese population.

Duarte AJ, Ribeiro D, Amaral O. Duarte AJ, et al. Among authors: ribeiro d. Blood Cells Mol Dis. 2013 Jan;50(1):50-2. doi: 10.1016/j.bcmd.2012.08.008. Epub 2012 Sep 6. Blood Cells Mol Dis. 2013. PMID: 22959626

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