Detalhe da pesquisa
1.
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.
J Med Genet
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413182
2.
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.
Clin Genet
; 101(4): 448-453, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988992
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.
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
BMC Pediatr
; 22(1): 65, 2022 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35081925
5.
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Clin Genet
; 99(3): 384-395, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200426
6.
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
BMC Pediatr
; 21(1): 209, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33926407
7.
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
Clin Genet
; 97(6): 878-889, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222963
8.
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
Clin Genet
; 97(5): 789-790, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31909476
9.
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
10.
Congenital muscular dystrophies in China.
Clin Genet
; 96(3): 207-215, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066047
11.
Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.
Metab Brain Dis
; 32(4): 1081-1087, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28349276
12.
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
Metab Brain Dis
; 32(4): 1123-1131, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28397151
13.
Nannochloropsis genomes reveal evolution of microalgal oleaginous traits.
PLoS Genet
; 10(1): e1004094, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415958
14.
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(5): 691-7, 2014 Oct 18.
Artigo
em Zh
| MEDLINE | ID: mdl-25331388
15.
[Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(1): 130-7, 2014 Feb 18.
Artigo
em Zh
| MEDLINE | ID: mdl-24535365
16.
Treatment of childhood intraneural perineurioma: A case report and literature review.
Heliyon
; 10(5): e26089, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38434310
17.
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
18.
A 1-year analysis from a natural history study in Chinese individuals with Duchenne muscular dystrophy.
Lancet Reg Health West Pac
; 42: 100944, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38089167
19.
Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta-analysis.
Epilepsia Open
; 8(2): 268-277, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740237
20.
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Front Neurol
; 14: 1158094, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37206914