Pinto E - Search Results

1

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG. Teixeira C, et al. Among authors: pinto r, pinto e. J Neurol. 2003 Jun;250(6):661-7. doi: 10.1007/s00415-003-1050-z. J Neurol. 2003. PMID: 12796825

2

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.

3

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.

4

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

5

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

6

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

7

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

8

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.

Amaral O, Lacerda L, Marcão A, Pinto E, Tamagnini G, Sá Miranda MC. Amaral O, et al. Among authors: pinto e. Clin Genet. 1999 Jul;56(1):100-2. doi: 10.1034/j.1399-0004.1999.560117.x. Clin Genet. 1999. PMID: 10466427 No abstract available.

9

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

10

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking.

Coutinho MF, Lacerda L, Pinto E, Ribeiro H, Macedo-Ribeiro S, Castro L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: pinto e. Clin Genet. 2015 Aug;88(2):190-4. doi: 10.1111/cge.12469. Epub 2014 Sep 17. Clin Genet. 2015. PMID: 25088547

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