Rebelo O - Search Results

1

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: rebelo o. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.

2

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.

Diogo L, Grazina M, Garcia P, Rebelo O, Veiga MA, Cuevas J, Vilarinho L, de Almeida IT, Oliveira CR. Diogo L, et al. Among authors: rebelo o. Pediatr Neurol. 2009 May;40(5):351-6. doi: 10.1016/j.pediatrneurol.2008.11.012. Pediatr Neurol. 2009. PMID: 19380071

3

[Frontal lobe-type dementia associated with motor neuron disease].

Santana I, Macario MC, Rebelo O, Pires MM. Santana I, et al. Among authors: rebelo o. Acta Med Port. 1995 Nov;8(11):629-34. Acta Med Port. 1995. PMID: 8713508 Free article. Review. Portuguese.

4

The Expression of Connexins and SOX2 Reflects the Plasticity of Glioma Stem-Like Cells.

Balça-Silva J, Matias D, Dubois LG, Carneiro B, do Carmo A, Girão H, Ferreira F, Ferrer VP, Chimelli L, Filho PN, Tão H, Rebelo O, Barbosa M, Sarmento-Ribeiro AB, Lopes MC, Moura-Neto V. Balça-Silva J, et al. Among authors: rebelo o. Transl Oncol. 2017 Aug;10(4):555-569. doi: 10.1016/j.tranon.2017.04.005. Epub 2017 Jun 24. Transl Oncol. 2017. PMID: 28654819 Free PMC article.

5

Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.

Carneiro DR, Rebelo O, Matos A, Baldeiras I, Almendra L, Fernandes C, Negrão L, Almeida MR, Matias F, Brás J, Guerreiro R, Santo GC. Carneiro DR, et al. Among authors: rebelo o. Neuromuscul Disord. 2021 Sep;31(9):891-895. doi: 10.1016/j.nmd.2021.05.001. Epub 2021 May 14. Neuromuscul Disord. 2021. PMID: 34210540

6

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I. Costa C, et al. Among authors: rebelo o. Neuromuscul Disord. 2013 Jul;23(7):557-61. doi: 10.1016/j.nmd.2013.03.005. Epub 2013 Apr 11. Neuromuscul Disord. 2013. PMID: 23582336

7

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.

Negrão L, Matos A, Geraldo A, Rebelo O. Negrão L, et al. Among authors: rebelo o. Acta Myol. 2010 Jul;29(1):21-4. Acta Myol. 2010. PMID: 22029105 Free PMC article.

8

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene.

Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O. Negrão L, et al. Among authors: rebelo o. Acta Myol. 2020 Mar 1;39(1):24-28. doi: 10.36185/2532-1900-004. eCollection 2020 Mar. Acta Myol. 2020. PMID: 32607476 Free PMC article.

9

Amplified and homozygously deleted genes in glioblastoma: impact on gene expression levels.

Crespo I, Tão H, Nieto AB, Rebelo O, Domingues P, Vital AL, Patino Mdel C, Barbosa M, Lopes MC, Oliveira CR, Orfao A, Tabernero MD. Crespo I, et al. Among authors: rebelo o. PLoS One. 2012;7(9):e46088. doi: 10.1371/journal.pone.0046088. Epub 2012 Sep 28. PLoS One. 2012. PMID: 23029397 Free PMC article.

10

Detailed characterization of alterations of chromosomes 7, 9, and 10 in glioblastomas as assessed by single-nucleotide polymorphism arrays.

Crespo I, Vital AL, Nieto AB, Rebelo O, Tão H, Lopes MC, Oliveira CR, French PJ, Orfao A, Tabernero MD. Crespo I, et al. Among authors: rebelo o. J Mol Diagn. 2011 Nov;13(6):634-47. doi: 10.1016/j.jmoldx.2011.06.003. Epub 2011 Aug 30. J Mol Diagn. 2011. PMID: 21884817 Free PMC article.

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