Suchergebnisse - "Lu, Ying-Qian"

PubPharm (25)

1

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

enthalten in: Stem cell research | 2024

von Guo, Y. | Li, J. | Xie, W. | +4

2

A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11

enthalten in: ResearchSquare.com | 2023

von Lu, Y. | Chen, J. | Huang, Y. | +1

3

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

enthalten in: Cell discovery | 2022

von Zhao, M. | Su, H. | Zeng, Y. | +38

4

Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis

enthalten in: Frontiers in molecular neuroscience | 2022

von Lu, Y. | Chen, J. | Lin, H. | +5

5

Base editing-mediated splicing correction therapy for spinal muscular atrophy

enthalten in: Cell research | 2020

von Lin, X. | Chen, H. | Lu, Y. | +12

6

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice

enthalten in: National science review | 2020

von Li, J. | Lin, X. | Tang, C. | +21

7

Identification of SLC20A2 deletions in patients with primary familial brain calcification

enthalten in: Clinical genetics | 2019

von Guo, X. | Su, H. | Zou, X. | +12

8

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)

enthalten in: Stem cell research | 2019

von Lu, Y. | Dong, E. | Yang, W. | +6

9

Identification of SLC20A2 deletions in patients with primary familial brain calcification

enthalten in: Clinical Genetics | 2019

von Guo, X. | Su, H. | Zou, X. | +12

10

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

enthalten in: Molecular neurodegeneration | 2018

von Dong, E. | Wang, C. | Wu, S. | +9