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Zhi-Ying Wu
Zhejiang University
GeneDominance (genetics)Hereditary spastic paraplegiaGeneticsMedicine
8Publications
3H-index
13Citations
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Publications 10
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#1Hong-Rong Cheng (ZJU: Zhejiang University)H-Index: 1
#2Xiao-Yan Li (ZJU: Zhejiang University)H-Index: 1
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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#1Xiao-Yan Li (ZJU: Zhejiang University)H-Index: 1
#2Hong-Lei Li (ZJU: Zhejiang University)H-Index: 2
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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#1Qiao Wei (ZJU: Zhejiang University)H-Index: 2
#2Hai-Lin Dong (ZJU: Zhejiang University)H-Index: 3
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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Although many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients. Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population. In this study, we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing (NGS), San...
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#1Zhi-Jun LiuH-Index: 8
Last. Zhi-Ying WuH-Index: 3
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Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease characterized by selective impairment of upper and lower motor neurons. We aimed to investigate the genetic spectrum and variability in Chinese patients with ALS. A total of 24 familial ALS (FALS) and 21 early-onset sporadic ALS (SALS) of Chinese ancestry were enrolled. Targeted next-generation sequencing (NGS) was performed in the probands, followed by verification by Sanger sequencing and co-segregation analy...
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#1Qiao WeiH-Index: 2
#2Hai-Lin DongH-Index: 3
Last. Zhi-Ying WuH-Index: 3
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#1Qiao WeiH-Index: 2
#2Hai-Lin DongH-Index: 3
Last. Zhi-Ying WuH-Index: 3
view all 10 authors...
Source
#1Hui-Xia Lin (Fujian Medical University)
#2Qing-Qing Tao (ZJU: Zhejiang University)H-Index: 2
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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AbstractAmyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by selective involvement of motor neurons in the central nervous system (CNS). The most common causative gene of ALS in the Chinese population is the Cu/Zn superoxide dismutase 1 (SOD1) gene, which accounts for 20–42.9% of familial ALS (FALS) and 1–2% of sporadic ALS (SALS) cases. In this study, we identify three novel SOD1 mutations, Gly17Cys, Pro75Ser, and His121Gln, in four ALS pedigrees. A fu...
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#1Cong Lu (ZJU: Zhejiang University)H-Index: 3
#2Li-Xi Li (ZJU: Zhejiang University)H-Index: 4
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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5 CitationsSource
#1Qing-Qing Tao (ZJU: Zhejiang University)H-Index: 2
#2Qiao Wei (ZJU: Zhejiang University)H-Index: 2
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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Abstract Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disorder, characterized by the selective degeneration of upper and lower motor neurons. The common clinical symptoms of ALS are caused by the degeneration and dysfunction of motor neurons. With the progression of our understanding of the pathogenesis of the disease, an increasing number of extramotor phenotypes have been linked to ALS. It has long been believed that sensory neurons localized in the dorsal root ganglia a...
3 CitationsSource
#1Sheng Chen (Fudan University)H-Index: 2
#2Wang Ni (ZJU: Zhejiang University)H-Index: 9
Last. Zhi-Ying Wu (ZJU: Zhejiang University)H-Index: 3
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SummaryAim To characterize clinical features and mutation spectrum in Chinese patients with CADASIL. Methods We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys, respectively. Results A total of 214 patients were fi...
5 CitationsSource
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