Guimarães A - Search Results

1

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

2

Giant axonal disease: report of three cases and review of the literature.

Maia M, Pires MM, Guimarães A. Maia M, et al. Among authors: guimaraes a. Neuropediatrics. 1988 Feb;19(1):10-5. doi: 10.1055/s-2008-1052394. Neuropediatrics. 1988. PMID: 3283594 Review.

3

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

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

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

6

[A retrospective study of Creutzfeldt-Jakob disease in North of Portugal 1993-2002: demographic, clinical and neuropathological features].

Silva AM, Pires MM, Bastos Leite AJ, Honavar M, Mendes A, Correia M, Nora M, Silva MR, Costa M, Guimarães A, Monteiro L. Silva AM, et al. Among authors: guimaraes a. Arq Neuropsiquiatr. 2003 Dec;61(4):950-6. doi: 10.1590/s0004-282x2003000600012. Epub 2004 Jan 6. Arq Neuropsiquiatr. 2003. PMID: 14762597 Free article. Portuguese.

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

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

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.

10

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

Cruz S, Taipa R, Nogueira C, Pereira C, Almeida LS, Neiva R, Geraldes T, Guimarães A, Melo-Pires M, Vilarinho L. Cruz S, et al. Among authors: guimaraes a. Muscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Apr 4. Muscle Nerve. 2017. PMID: 28128857

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