Pinto E - Search Results

1

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: pinto e. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343

2

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.

Marcão A, Pinto E, Rocha S, Sá Miranda MC, Ferreira L, Amaral O. Marcão A, et al. Among authors: pinto e. Mol Genet Metab. 2003 Aug;79(4):305-7. doi: 10.1016/s1096-7192(03)00092-1. Mol Genet Metab. 2003. PMID: 12948748

3

Prevalence of lysosomal storage diseases in Portugal.

Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Pinto R, et al. Among authors: pinto e. Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. Eur J Hum Genet. 2004. PMID: 14685153

4

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Among authors: pinto e. Biochim Biophys Acta. 2015 Dec;1852(12):2712-21. doi: 10.1016/j.bbadis.2015.09.011. Epub 2015 Sep 25. Biochim Biophys Acta. 2015. PMID: 26407519 Free article.

5

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Matos L, et al. Among authors: pinto e. Data Brief. 2015 Oct 28;5:810-7. doi: 10.1016/j.dib.2015.10.011. eCollection 2015 Dec. Data Brief. 2015. PMID: 26693516 Free PMC article.

6

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O. Pinto E, et al. Epilepsy Res. 2012 Mar;99(1-2):187-90. doi: 10.1016/j.eplepsyres.2011.11.004. Epub 2011 Dec 10. Epilepsy Res. 2012. PMID: 22154554

7

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Ribeiro MG, Sonin T, Pinto RA, Fontes A, Ribeiro H, Pinto E, Palmeira MM, Sá Miranda MC. Ribeiro MG, et al. Among authors: pinto ra, pinto e. J Med Genet. 1996 Apr;33(4):341-3. doi: 10.1136/jmg.33.4.341. J Med Genet. 1996. PMID: 8730294 Free PMC article.

8

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda MC. Amaral O, et al. Among authors: pinto e. Hum Mutat. 1996;8(3):280-1. doi: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8889591 No abstract available.

9

Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

Amaral O, Marcão A, Pinto E, Zimran A, Miranda MC. Amaral O, et al. Among authors: pinto e. Blood Cells Mol Dis. 1997 Dec;23(3):415-6. doi: 10.1006/bcmd.1997.0159. Blood Cells Mol Dis. 1997. PMID: 9446756

10

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.

Marcão A, Amaral O, Pinto E, Pinto R, Sá Miranda MC. Marcão A, et al. Among authors: pinto r, pinto e. Hum Mutat. 1999;13(4):337-8. doi: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu14>3.0.co;2-9. Hum Mutat. 1999. PMID: 10220151

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