Detalhe da pesquisa
1.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Am J Hum Genet
; 109(3): 533-541, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148830
2.
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
J Med Genet
; 61(4): 340-346, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923380
3.
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.
J Med Genet
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413182
4.
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.
Proc Natl Acad Sci U S A
; 119(41): e2208649119, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191230
5.
Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.
Neurobiol Dis
; 190: 106391, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145851
6.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
7.
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.
Eur J Neurol
; 30(2): 527-537, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36263606
8.
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.
J Med Genet
; 59(5): 462-469, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766934
9.
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
J Clin Lab Anal
; 37(21-22): e24987, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968799
10.
Oculopharyngodistal myopathy.
Curr Opin Neurol
; 35(5): 637-644, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942670
11.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Brain
; 144(6): 1819-1832, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693509
12.
Response to Eura et al.
Am J Hum Genet
; 109(11): 2090-2091, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332613
13.
Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
J Med Genet
; 56(11): 758-764, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31413119
14.
Efficacy, immunogenicity and safety of the HPV-16/18 AS04-adjuvanted vaccine in healthy Chinese women aged 18-25 years: results from a randomized controlled trial.
Int J Cancer
; 135(11): 2612-22, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740596
15.
Interaction of depressive and anxiety symptoms on the mortality of patients with COPD: a preliminary study.
COPD
; 11(4): 444-50, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25010754
16.
Spike 1 trimer, a nanoparticle vaccine against porcine epidemic diarrhea virus induces protective immunity challenge in piglets.
Front Microbiol
; 15: 1386136, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650887
17.
Impact of risk factors, activities and psychological disorders on the health of patients with chronic obstructive pulmonary disease in China: a cross-sectional study.
BMC Public Health
; 13: 627, 2013 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23819735
18.
Supporting smoking cessation in chronic obstructive pulmonary disease with behavioral intervention: a randomized controlled trial.
BMC Fam Pract
; 14: 91, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23802809
19.
Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation.
Front Physiol
; 14: 1164287, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650111
20.
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.
J Neurol
; 270(2): 925-937, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319768