Detalhe da pesquisa
1.
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Hum Mol Genet
; 31(10): 1635-1650, 2022 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888619
2.
[Clinical features of children with febrile seizures caused by Omicron variant infection]. / Omicronåå¼æ ªææ导è´å¿ç«¥çæ§æå¥ç临åºç¹å¾åæ.
Zhongguo Dang Dai Er Ke Za Zhi
; 25(6): 595-599, 2023 Jun 15.
Artigo
em Chinês
| MEDLINE | ID: mdl-37382128
3.
Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3.
BMC Musculoskelet Disord
; 22(1): 729, 2021 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429096
4.
Hydrocephalus due to aqueductal stenosis presenting with acute bilateral ptosis: case report.
Br J Neurosurg
; 34(6): 683-685, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845609
5.
Congenital muscular dystrophies in China.
Clin Genet
; 96(3): 207-215, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066047
6.
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Heliyon
; 10(6): e28015, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515714
7.
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.
Neuromuscul Disord
; 33(5): 382-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023488
8.
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay.
Neuromuscul Disord
; 31(6): 519-527, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33838997