Encarnação M - Search Results

1

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S. Coutinho MF, et al. Among authors: encarnacao m. Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058. Diagnostics (Basel). 2020. PMID: 31973102 Free PMC article.

2

A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair.

Encarnação M, Espada L, Escrevente C, Mateus D, Ramalho J, Michelet X, Santarino I, Hsu VW, Brenner MB, Barral DC, Vieira OV. Encarnação M, et al. J Cell Biol. 2016 Jun 20;213(6):631-40. doi: 10.1083/jcb.201511093. J Cell Biol. 2016. PMID: 27325790 Free PMC article.

3

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

4

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Among authors: encarnacao m. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125

5

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S. Coutinho MF, et al. Among authors: encarnacao m. J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173. J Pediatr Endocrinol Metab. 2016. PMID: 27710913

6

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S. Encarnação M, et al. Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355. Int J Mol Sci. 2020. PMID: 32883051 Free PMC article.

7

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.

8

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.

Carvalho S, Santos JI, Moreira L, Gonçalves M, David H, Matos L, Encarnação M, Alves S, Coutinho MF. Carvalho S, et al. Among authors: encarnacao m. Biomedicines. 2023 Apr 21;11(4):1234. doi: 10.3390/biomedicines11041234. Biomedicines. 2023. PMID: 37189853 Free PMC article. Review.

9

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

Encarnação M, David H, Coutinho MF, Moreira L, Alves S. Encarnação M, et al. Biomedicines. 2023 Sep 23;11(10):2615. doi: 10.3390/biomedicines11102615. Biomedicines. 2023. PMID: 37892989 Free PMC article. Review.

10

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Encarnação M, Ribeiro I, David H, Coutinho MF, Quelhas D, Alves S. Encarnação M, et al. Genes (Basel). 2023 Oct 25;14(11):1990. doi: 10.3390/genes14111990. Genes (Basel). 2023. PMID: 38002933 Free PMC article. Review.

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