Dias 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: dias 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

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: dias 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

3

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P. Lopes F, et al. Among authors: dias ai. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740508 Free article.

4

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.

Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: dias a, dias k. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401

5

Origin of frontal lobe spikes in the early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome).

Leal AJ, Ferreira JC, Dias AI, Calado E. Leal AJ, et al. Clin Neurophysiol. 2008 Sep;119(9):1985-91. doi: 10.1016/j.clinph.2008.04.299. Epub 2008 Jul 11. Clin Neurophysiol. 2008. PMID: 18620904 Free article.

6

Sulfite oxidase deficiency--an unusual late and mild presentation.

Rocha S, Ferreira AC, Dias AI, Vieira JP, Sequeira S. Rocha S, et al. Brain Dev. 2014 Feb;36(2):176-9. doi: 10.1016/j.braindev.2013.01.013. Epub 2013 Feb 27. Brain Dev. 2014. PMID: 23452914 Free article.

7

The BOLD effect of interictal spike activity in childhood occipital lobe epilepsy.

Leal A, Dias A, Vieira JP, Secca M, Jordão C. Leal A, et al. Among authors: dias a. Epilepsia. 2006 Sep;47(9):1536-42. doi: 10.1111/j.1528-1167.2006.00626.x. Epilepsia. 2006. PMID: 16981870 Free article.

8

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. Marini C, et al. Among authors: dias ai. Epilepsia. 2007 Sep;48(9):1678-1685. doi: 10.1111/j.1528-1167.2007.01122.x. Epub 2007 Jun 11. Epilepsia. 2007. PMID: 17561957 Free article.

9

Analysis of the generators of epileptic activity in early-onset childhood benign occipital lobe epilepsy.

Leal AJ, Nunes S, Dias AI, Vieira JP, Moreira A, Calado E. Leal AJ, et al. Among authors: dias ai. Clin Neurophysiol. 2007 Jun;118(6):1341-7. doi: 10.1016/j.clinph.2007.02.017. Epub 2007 Mar 29. Clin Neurophysiol. 2007. PMID: 17398149

10

Anthocyanin-rich grape pomace extract encapsulated in protein fibers: Colorimetric profile, in vitro release, thermal resistance, and biological activities.

Jansen ET, Cruz EPD, Fonseca LM, Hackbart HCDS, Radünz M, Siebeneichler TJ, Gandra EA, Rombaldi CV, Dias ARG, Zavareze EDR. Jansen ET, et al. Among authors: dias arg. Food Res Int. 2024 Nov;196:115081. doi: 10.1016/j.foodres.2024.115081. Epub 2024 Sep 14. Food Res Int. 2024. PMID: 39614503

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