Lu-Lu Lai

发表

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy

Wanjin Chen, Ning Wang, Xin-Xin Guo, 2018, Journal of Molecular Neuroscience.

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).

Wanjin Chen, Ning Wang, Xiang Lin, 2019, Stem cell research.

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Z. Xiong, Ning Wang, Hongjie Yu, 2018, Neuron.

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

A. Krainer, Yidi Sun, Min-ting Lin, 2019, National science review.

Identification of SLC20A2 deletions in patients with primary familial brain calcification

Ning Wang, Xin-Xin Guo, Jie Lin, 2019, Clinical genetics.

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy

Ning Wang, Xin-Xin Guo, Xiang Lin, 2018, Journal of Molecular Neuroscience.

Base editing-mediated splicing correction therapy for spinal muscular atrophy

Ning Wang, Erwei Zuo, Wenqin Ying, 2020, Cell Research.

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Xin-Xin Guo, Miao Zhao, Yun-Lu Li, 2021, Frontiers in Genetics.

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia

Ning Wang, Xiang Lin, Yi-Jun Chen, 2020, Annals of clinical and translational neurology.

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

Z. Xiong, Min-ting Lin, C. Liou, 2022, Cell Discovery.

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification

Ning Wang, Xin-Xin Guo, Q. Yao, 2019, Human mutation.

Base editing-mediated splicing correction therapy for spinal muscular atrophy

Ning Wang, Erwei Zuo, Wenqin Ying, 2020, Cell Research.

[Construction of a striatum-specific Slc20a2 gene knockout mice model by CRISPR/Cas9 AAV system].

Min-ting Lin, Miao Zhao, Lu-Lu Lai, 2020, Yi chuan = Hereditas.