Guimarães A - Search Results

1

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

Barbot C, Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro J, Guimarães A, Mendonça P, do Céu Moreira M, Sequeiros J. Barbot C, et al. Among authors: guimaraes a. Arch Neurol. 2001 Feb;58(2):201-5. doi: 10.1001/archneur.58.2.201. Arch Neurol. 2001. PMID: 11176957

2

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C. Carrilho I, et al. Among authors: guimaraes a. Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. doi: 10.1016/j.ejpn.2008.01.005. Epub 2008 Mar 21. Eur J Paediatr Neurol. 2008. PMID: 18359254

3

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimarães A, Pires MM, Cardoso ML, Vilarinho L. Barbot C, et al. Among authors: guimaraes a. Brain Dev. 1997 Jun;19(4):268-73. doi: 10.1016/s0387-7604(97)00574-3. Brain Dev. 1997. PMID: 9187477

4

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

5

The peripheral neuropathy in Machado-Joseph disease.

Coutinho P, Guimarães A, Pires MM, Scaravilli F. Coutinho P, et al. Among authors: guimaraes a. Acta Neuropathol. 1986;71(1-2):119-24. doi: 10.1007/BF00687972. Acta Neuropathol. 1986. PMID: 3465189

6

The pathology of Machado-Joseph disease. Report of a possible homozygous case.

Coutinho P, Guimarães A, Scaravilli F. Coutinho P, et al. Among authors: guimaraes a. Acta Neuropathol. 1982;58(1):48-54. doi: 10.1007/BF00692697. Acta Neuropathol. 1982. PMID: 7136516

7

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Vilarinho L, Barbot C, Carrozzo R, Calado E, Tessa A, Dionisi-Vici C, Guimarães A, Santorelli FM. Vilarinho L, et al. Among authors: guimaraes a. J Inherit Metab Dis. 2001 Dec;24(8):883-4. doi: 10.1023/a:1013908728445. J Inherit Metab Dis. 2001. PMID: 11916326 No abstract available.

8

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

9

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

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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