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1 . Academic Journal
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
저자
by
Yu Guo
;
Jiaqi Li
;
Wenyi Xie
;
Huaping Huang
;
Jin-Jing Li
, et al.
소스
Stem Cell Research, Vol 74, Iss , Pp 103268- (2024)
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7 . Academic Journal
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification
저자
by
Miao Zhao
;
Hui-Zhen Su
;
Yi-Heng Zeng
;
Yuan Sun
;
Xin-Xin Guo
, et al.
소스
Cell Discovery, Vol 8, Iss 1, Pp 1-17 (2022)
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7 . Academic Journal
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis
저자
by
Ying-Qian Lu
;
Jian-Min Chen
;
Han Lin
;
Shu-Yan Feng
;
Chun-Hui Che
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 15 (2022)
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7 . Academic Journal
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
저자
by
En-Lin Dong
;
Chong Wang
;
Shuang Wu
;
Ying-Qian Lu
;
Xiao-Hong Lin
, et al.
소스
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-14 (2018)
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7 . Academic Journal
Research progress of spinal muscular atrophy treatment in children
저자
by
Miao ZHAO
;
Ying-qian LU
;
Ning WANG
;
Wan-jin CHEN
.
소스
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 18, Iss 4, Pp 284-289 (2018)
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6 . Academic Journal
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)
저자
by
Ying-qian Lu
;
En-lin Dong
;
Wei-qi Yang
;
Lu-lu Lai
;
Xiao-hong Lin
, et al.
소스
Stem Cell Research, Vol 34, Iss , Pp - (2019)
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7 .
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
저자
by
Ying-Qian Lu
;
Jian-Min Chen
;
Ya-Li Huang
;
Zhang-Yu Zou
.
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6 . Academic Journal
Application of urine cells in drug intervention for spinal muscular atrophy.
저자
by
QI-JIE ZHANG
;
XIANG LIN
;
JIN-JING LI
;
YING-QIAN LU
;
XIN-XIN GUO
, et al.
소스
Experimental & Therapeutic Medicine
. Sep2017, Vol. 14 Issue 3, p1993-1998. 6p.
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7 .
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice
저자
by
Yidi Sun
;
Ying-Qian Lu
;
Lixiang Ma
;
Changyang Zhou
;
Wan-Jin Chen
, et al.
소스
National Science Review
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7 .
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
저자
by
Shuang Wu
;
Miao Zhao
;
Ning Wang
;
Jin He
;
Wan-Jin Chen
, et al.
소스
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-14 (2018)
Molecular Neurodegeneration
Open Access (BioMed Central)
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