Marcia E Oliveira
Overview
Explore the profile of Marcia E Oliveira including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
231
Followers
0
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Recent Articles
1.
Carvalho A, Costa C, Pinto M, Taipa R, Goncalves A, Oliveira M, et al.
J Pediatr Genet
. 2023 Aug;
12(3):258-262.
PMID: 37575650
X-linked myotubular myopathy (XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the gene encoding myotubularin, is typically recognized for its classic and severe phenotype which includes neonatal hypotonia,...
2.
Pinto F, Lamas A, Oliveira D, Oliveira M, Faria R
Acta Med Port
. 2023 Apr;
36(5):379-380.
PMID: 37071935
No abstract available.
3.
Goncalves A, Fortuna A, Ariyurek Y, Oliveira M, Nadais G, Pinheiro J, et al.
Int J Mol Sci
. 2022 Jan;
23(1).
PMID: 35008485
While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic...
4.
Tavares I, Silvano J, Moreira L, Oliveira M, Silva R, Sampaio S, et al.
Amyloid
. 2019 Jul;
26(sup1):162-163.
PMID: 31343301
No abstract available.
5.
Tavares I, Oliveira M, Maia N, Moreira L, Castro Lacerda P, Santos J, et al.
Amyloid
. 2019 Jul;
26(sup1):144-145.
PMID: 31343282
No abstract available.
6.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Goncalves A, et al.
Hum Mutat
. 2018 Jul;
39(10):1314-1337.
PMID: 30055037
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a...
7.
Oliveira J, Goncalves A, Oliveira M, Fineza I, Pavanello R, Vainzof M, et al.
J Neuromuscul Dis
. 2016 Nov;
1(2):169-179.
PMID: 27858771
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle...
8.
Oliveira J, Goncalves A, Taipa R, Melo-Pires M, Oliveira M, Costa J, et al.
J Hum Genet
. 2016 Feb;
61(6):497-505.
PMID: 26841830
Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup...
9.
Marques J, Duarte S, Costa S, Jacinto S, Oliveira J, Oliveira M, et al.
Neuromuscul Disord
. 2014 Feb;
24(5):419-24.
PMID: 24534542
Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes,...
10.
Oliveira J, Oliveira M, Kress W, Taipa R, Melo Pires M, Hilbert P, et al.
Eur J Hum Genet
. 2012 Sep;
21(5):540-9.
PMID: 22968136
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes...