Detalhe da pesquisa
1.
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Mov Disord
; 38(7): 1282-1293, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148549
2.
Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.
Int J Neurosci
; 133(9): 1045-1054, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289716
3.
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
J Med Genet
; 58(5): 326-333, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571898
4.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
5.
Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies.
Biochem Genet
; 58(6): 966-980, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32705401
6.
Congenital muscular dystrophies in China.
Clin Genet
; 96(3): 207-215, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066047
7.
Corrigendum to "Hydrogen-Rich Saline Attenuates Cardiac and Hepatic Injury in Doxorubicin Rat Model by Inhibiting Inflammation and Apoptosis".
Mediators Inflamm
; 2017: 3675910, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535497
8.
Hydrogen-Rich Saline Attenuates Cardiac and Hepatic Injury in Doxorubicin Rat Model by Inhibiting Inflammation and Apoptosis.
Mediators Inflamm
; 2016: 1320365, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28104928
9.
Prevalence of Adeno-Associated Virus-9-Neutralizing Antibody in Chinese Patients with Duchenne Muscular Dystrophy.
Hum Gene Ther
; 35(1-2): 26-35, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084965
10.
Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G.
J Pediatr Endocrinol Metab
; 36(8): 777-781, 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459161
11.
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Front Genet
; 14: 1170089, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342771
12.
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.
Front Genet
; 13: 825793, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368679
13.
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy.
Neuromuscul Disord
; 31(11): 1144-1153, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702656
14.
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Orphanet J Rare Dis
; 16(1): 319, 2021 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281576
15.
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Orphanet J Rare Dis
; 14(1): 43, 2019 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764848
16.
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.
Sci Rep
; 8(1): 14989, 2018 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30301903
17.
pH-activated size reduction of large compound nanoparticles for in vivo nucleus-targeted drug delivery.
Biomaterials
; 85: 30-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854389
18.
Architecture of the symmetric core of the nuclear pore.
Science
; 352(6283): aaf1015, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081075
19.
Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.
Chin Med J (Engl)
; 134(12): 1483-1485, 2020 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290285
20.
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
Chin Med J (Engl)
; 133(11): 1358-1360, 2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515919