Melo-Pires M - Search Results

1

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. Oliveira J, et al. J Hum Genet. 2016 Jun;61(6):497-505. doi: 10.1038/jhg.2016.2. Epub 2016 Feb 4. J Hum Genet. 2016. PMID: 26841830

2

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Rocha J, Taipa R, Melo Pires M, Oliveira J, Santos R, Santos M. Rocha J, et al. Pediatr Neurol. 2014 Aug;51(2):275-8. doi: 10.1016/j.pediatrneurol.2014.04.024. Epub 2014 Apr 28. Pediatr Neurol. 2014. PMID: 24950660

3

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M. Oliveira J, et al. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5. J Hum Genet. 2015. PMID: 25740612

4

Samões R, Oliveira J, Taipa R, Coelho T, Cardoso M, Gonçalves A, Santos R, Melo Pires M, Santos M. Samões R, et al. J Neuromuscul Dis. 2017;4(1):67-76. doi: 10.3233/JND-160199. J Neuromuscul Dis. 2017. PMID: 28269792

5

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: melo pires m. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.

6

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Gonçalves A, Oliveira J, Coelho T, Taipa R, Melo-Pires M, Sousa M, Santos R. Gonçalves A, et al. Genes (Basel). 2017 Oct 3;8(10):253. doi: 10.3390/genes8100253. Genes (Basel). 2017. PMID: 28972564 Free PMC article.

7

PARK2 presenting as a disabling peripheral axonal neuropathy.

Domingos J, Coelho T, Taipa R, Basto JP, Melo-Pires M, Magalhães MJ. Domingos J, et al. Neurol Sci. 2015 Feb;36(2):341-3. doi: 10.1007/s10072-014-1898-y. Epub 2014 Jul 25. Neurol Sci. 2015. PMID: 25060649 No abstract available.

8

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Maia N, Soares AR, Fortuna AM, Marques I, Gonçalves A, Santos R, Melo Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: melo pires m. Clin Case Rep. 2020 Jul 30;8(12):2476-2482. doi: 10.1002/ccr3.3146. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363762 Free PMC article.

9

Acute hemorrhagic leukoencephalitis with severe brainstem and spinal cord involvement: MRI features with neuropathological confirmation.

Pinto PS, Taipa R, Moreira B, Correia C, Melo-Pires M. Pinto PS, et al. J Magn Reson Imaging. 2011 Apr;33(4):957-61. doi: 10.1002/jmri.22505. J Magn Reson Imaging. 2011. PMID: 21448963

10

Clinico-pathological correlations of the most common neurodegenerative dementias.

Taipa R, Pinho J, Melo-Pires M. Taipa R, et al. Front Neurol. 2012 May 1;3:68. doi: 10.3389/fneur.2012.00068. eCollection 2012. Front Neurol. 2012. PMID: 22557993 Free PMC article.

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