Detalhe da pesquisa
1.
Identification of SLC20A2 deletions in patients with primary familial brain calcification.
Clin Genet
; 96(1): 53-60, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891739
2.
Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2.
Stem Cell Res
; 74: 103268, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100910
3.
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis.
Front Mol Neurosci
; 15: 691534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35283724
4.
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
Cell Discov
; 8(1): 128, 2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36443312
5.
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.
Natl Sci Rev
; 7(1): 92-101, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34691481
6.
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
Stem Cell Res
; 34: 101354, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30611022
7.
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Mol Neurodegener
; 13(1): 36, 2018 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29980238
8.
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
J Mol Neurosci
; 65(2): 196-202, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29799103
9.
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Neuron
; 98(6): 1116-1123.e5, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29910000
10.
Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons.
Oncotarget
; 8(7): 10945-10953, 2017 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28099929
11.
Application of urine cells in drug intervention for spinal muscular atrophy.
Exp Ther Med
; 14(3): 1993-1998, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28962115
12.
Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.
Oncotarget
; 8(26): 42030-42042, 2017 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28159932
13.
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification.
Gene
; 2016 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27984190
14.
Base editing-mediated splicing correction therapy for spinal muscular atrophy.
Cell Res
; 30(6): 548-550, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32210360
15.
[Expression of human-mouse chimeric antibody ch-BD1 and its affinity to human bladder cancer in vitro and in vivo].
Zhonghua Yi Xue Za Zhi
; 83(4): 333-7, 2003 Feb 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-12812655
16.
[Significantly improvement of antibody expression level in CHO cells through downregulation of the DHFR gene in expression vector].
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi
; 19(1): 62-4, 67, 2003 Jan.
Artigo
em Chinês
| MEDLINE | ID: mdl-15132910
17.
[Correlation and significance of E-cadherin and N-cadherin expression in prostate cancer].
Ai Zheng
; 21(11): 1208-11, 2002 Nov.
Artigo
em Chinês
| MEDLINE | ID: mdl-12526217
18.
[Screening of novel genes differentially expressed in human renal cell carcinoma by suppression subtractive hybridization].
Ai Zheng
; 21(10): 1065-9, 2002 Oct.
Artigo
em Chinês
| MEDLINE | ID: mdl-12508644