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11 .
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families
저자
by
Jing-Hui Lai
;
Qi-Jie Zhang
;
Wan-Jin Chen
;
Yao Xiangping
;
Hui-Zhen Su
, et al.
소스
Journal of Human Genetics
. 62:697-701
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17 .
Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells
저자
by
Jin-Jing Li
;
Ying-Qian Lu
;
En-Lin Dong
;
Wen-Jing Qian
;
Ning Wang
, et al.
소스
Oncotarget
Open Access (OpenAIRE)
Scopus
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17 .
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia
저자
by
Wan-Jin Chen
;
Xiang Lin
;
En-Lin Dong
;
Ning Wang
;
Zaiqiang Zhang
, et al.
소스
Parkinsonismrelated disorders
. 65
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17 .
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
Lixiang Ma
;
Wan-Jin Chen
;
Wei-qi Yang
;
Xiang Lin
;
Ying-Qian Lu
, et al.
소스
Stem Cell Research, Vol 34, Iss, Pp-(2019)
Open Access (OpenAIRE)
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17 .
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies
저자
by
En-Lin Dong
;
Xiao-Huan Zou
;
Xin-Xin Guo
;
Qi-Jie Zhang
;
Chong Wang
, et al.
소스
Journal of molecular neuroscience : MN
. 68(4)
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17 .
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
저자
by
Yao Xiangping
;
Shuang Wu
;
Xue-Jiao Chen
;
Hui-Zhen Su
;
Ning Wang
, et al.
소스
Neuron
. 98(6)
Full Text (ScienceDirect)
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17 .
c.835-5TG Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy
저자
by
Lu-Lu Lai
;
Ying-Qian Lu
;
Shuang Wu
;
En-Lin Dong
;
Chong Wang
, et al.
소스
Journal of molecular neuroscience : MN
. 65(2)
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17 .
Additional file 2: of Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
저자
by
En-Lin Dong
;
Wang, Chong
;
Wu, Shuang
;
Lu, Ying-Qian
;
Lin, Xiao-Hong
, et al.
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