Guimarães A - Search Results

1

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

Bessa C, Teixeira CA, Mangas M, Dias A, Sá Miranda MC, Guimarães A, Ferreira JC, Canas N, Cabral P, Ribeiro MG. Bessa C, et al. Among authors: guimaraes a. Mol Genet Metab. 2006 Nov;89(3):245-53. doi: 10.1016/j.ymgme.2006.04.010. Epub 2006 Jun 30. Mol Genet Metab. 2006. PMID: 16814585

2

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: guimaraes a. J Neurol. 2003 Jun;250(6):661-7. doi: 10.1007/s00415-003-1050-z. J Neurol. 2003. PMID: 12796825

3

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

Bessa C, Teixeira CA, Dias A, Alves M, Rocha S, Lacerda L, Loureiro L, Guimarães A, Ribeiro MG. Bessa C, et al. Among authors: guimaraes a. Mol Genet Metab. 2008 Jan;93(1):66-73. doi: 10.1016/j.ymgme.2007.08.124. Epub 2007 Oct 23. Mol Genet Metab. 2008. PMID: 17959406

4

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM. Teixeira CA, et al. Among authors: guimaraes a. Hum Mutat. 2003 May;21(5):502-8. doi: 10.1002/humu.10207. Hum Mutat. 2003. PMID: 12673792

5

The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.

Vilarinho L, Santorelli FM, Coelho I, Rodrigues L, Maia M, Barata I, Cabral P, Dionísio A, Costa A, Guimarães A, DiMauro S. Vilarinho L, et al. Among authors: guimaraes a. J Neurol Sci. 1999 Mar 1;163(2):168-74. doi: 10.1016/s0022-510x(99)00030-1. J Neurol Sci. 1999. PMID: 10371079 Free article.

6

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E. Santos R, et al. Among authors: guimaraes a. J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535123

7

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R. Oliveira J, et al. Among authors: guimaraes a. J Hum Genet. 2008;53(6):565-572. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11. J Hum Genet. 2008. PMID: 18330676

8

Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.

dos Santos MR, Jorge P, Ribeiro EM, Pires MM, Guimarães A. dos Santos MR, et al. Among authors: guimaraes a. Hum Mutat. 1998;12(3):214-5. Hum Mutat. 1998. PMID: 10660328

9

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

Vilarinho L, Santorelli FM, Cardoso ML, Coelho T, Guimarães A, Coutinho P. Vilarinho L, et al. Among authors: guimaraes a. Eur Neurol. 1998;39(3):148-53. doi: 10.1159/000007925. Eur Neurol. 1998. PMID: 9605391

10

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Pereira C, et al. Among authors: guimaraes a. Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. doi: 10.1016/j.bbrc.2007.01.068. Epub 2007 Jan 23. Biochem Biophys Res Commun. 2007. PMID: 17266923 Free article.

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