Detalhe da pesquisa
1.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
2.
Fluorescent aptasensor based on conformational switch-induced hybridization for facile detection of ß-amyloid oligomers.
Anal Bioanal Chem
; 414(28): 8155-8165, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178490
3.
L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish.
J Biomed Sci
; 28(1): 8, 2021 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33435938
4.
Specific Gene Capture Combined with Restriction-Fragment Release for Directly Fluorescent Genotyping of Single-Nucleotide Polymorphisms in Diagnosing Spinal Muscular Atrophy.
Anal Chem
; 90(19): 11599-11606, 2018 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30203652
5.
A Three-MicroRNA Signature as a Potential Biomarker for the Early Detection of Oral Cancer.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518940
6.
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
J Pediatr
; 190: 124-129.e1, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711173
7.
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Rheumatology (Oxford)
; 56(2): 287-293, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27818386
8.
Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
Muscle Nerve
; 56(3): 479-485, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27935074
9.
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Mol Genet Metab
; 118(4): 259-63, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27216367
10.
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions.
J Neurol Neurosurg Psychiatry
; 92(11): 1244-1246, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574081
11.
Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy.
Pharmacol Res
; 111: 58-75, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241020
12.
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Prenat Diagn
; 36(12): 1135-1138, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27762439
13.
Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.
Int J Mol Sci
; 17(12)2016 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27983599
14.
Label-Free Fluorescent Copper Nanoclusters for Genotyping of Deletion and Duplication of Duchenne Muscular Dystrophy.
Anal Chem
; 87(12): 6228-32, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982038
15.
Genotyping of exons 1 to 20 in Duchenne muscular dystrophy by universal multiplex PCR and short-end capillary electrophoresis.
Electrophoresis
; 35(23): 3387-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113953
16.
Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.
Sci Rep
; 14(1): 12826, 2024 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38834813
17.
The NAT2 tag SNP rs1495741 correlates with the susceptibility of antituberculosis drug-induced hepatotoxicity.
Pharmacogenet Genomics
; 23(4): 200-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23407048
18.
Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene.
Electrophoresis
; 34(17): 2503-10, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23818053
19.
Inhibition of histamine H1 receptor activity modulates proinflammatory cytokine production of dendritic cells through c-Rel activity.
Int Arch Allergy Immunol
; 160(3): 265-74, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23075496
20.
Lung cancer-derived galectin-1 mediates dendritic cell anergy through inhibitor of DNA binding 3/IL-10 signaling pathway.
J Immunol
; 186(3): 1521-30, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21191065