腓骨肌萎缩症新致病基因MORC2的发病机制研究
81771366
2017
H0911.神经-肌肉接头和肌肉疾病、自主神经疾病
张如旭
面上项目
主任医师
中南大学
54万元
基因突变;MORC2;发病机制;腓骨肌萎缩症;DNA损伤反应
2018-01-01到2021-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | “康缘杯·杰出神经内科医师”荣誉称号 | 奖励 | 张如旭 |
| 2 | Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China | 期刊论文 | Yongzhi Xie;Zhiqiang Lin;Lei Liu;Xiaobo Li;Shunxiang Huang;Huangdong Zhao;Binghao Wang;Sen Zeng;Wanqian Cao;Lu Li;Xiying Zhu;Siwei Huang;Honglan Yang;Mengli Wang;Zhengmao Hu;Junling Wang;Jifeng Guo;Lu Shen;Hong Jiang;Stephan Zuchner;BeiSha Tang;Ruxu Zhang |
| 3 | Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes | 期刊论文 | Cortese A;Yi Zhu;Adriana P. Rebelo;Sara Negri;Steve Courel;Lisa Abreu;Chelsea J. Bacon;Yunhong Bai;Dana M. Bis-Brewer;Enrico Bugiardini;Elena Buglo;Matt C. Danzi;Shawna M. E. Feely;Alkyoni Athanasiou-Fragkouli;Nourelhoda A. Haridy;Inherited Neuropathy Consortium;Rosario Isasi;Alaa Khan;Matilde Laurà;Stefania Magri;Menelaos Pipis;Chiara Pisciotta;Eric Powell;Alexander M. Rossor;Paola Saveri;Janet E. Sowden;Stefano Tozza;Jana Vandrovcova... |
| 4 | Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease | 期刊论文 | Sun Shun-Chang;Ma Di;Li Mei-Yi;Zhang Ru-Xu;Huang Cheng;Huang Hua-Jie;Xie Yong-zhi;Wang Zhong-Ju;Liu Jun;Cai De-Cheng;Liu Cui-Xian;Yang Qi;Bao Fei-Xiang;Gong Xiao-Li;Li Jie-Ru;Hui Zheng;Wei Xiao-feng;Zhong Jian-Mei;Zhou Wan-jun;Shang Xuan;Zhang Cheng;Liu Xing-Guo;Tang Bei-Sha;Xiong Fu;Xu Xiang-Min |
| 5 | 中国人群腓骨肌萎缩症的分子遗传学研究 | 奖励 | 张如旭 |
| 6 | A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family | 期刊论文 | Wang Binghao;Li Xiaobo;Huang Shunxiang;Zhao Huadong;Liu Jun;Hui Zhengmao;Lin Zhiqiang;Liu Lei;Xie Yongzhi;Jin Qingwen;Zhao Huihui;Tang Beisha;Niu Qi;Zhang Ruxu |
| 7 | Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth | 期刊论文 | Zhao Xin;Jiang Ming-Ming;Yan Yi-Zhou;Liu Lei;Xie Yong-Zhi;Li Xiao-Bo;Hu Zheng-Mao;Zi Xiao-Hong;Xia Kun;Tang Bei-Sha;Zhang Ru-Xu |
| 8 | Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders | 期刊论文 | Tian Yun;Wang Jun-Ling;Huang Wen;Zeng Sheng;Jiao Bin;Liu Zhen;Chen Zhao;Li Yujing;Wang Ying;Min Hao-Xuan;Wang Xue-Jing;You Yong;Zhang Ru-Xu;Chen Xiao-Yu;Yi Fang;Zhou Ya-Fang;Long Hong-Yu;Zhou Chao-Jun;Hou Xuan;Wang Jun-Pu;Xie Bin;Liang Fan;Yang Zhuan-Yi;Sun Qi-Ying;Allen Emily G.;Shafik Andrew Mark;Kong Ha Eun;Guo Ji-Feng;Yan Xin-Xiang;Hu Zheng-Mao;Xia Kun;Jiang Hong;Xu Hong-Wei... |
| 9 | 中国人山梨醇脱氢酶基因相关腓骨肌萎缩症的基因型-表型分析 | 期刊论文 | 林志强;李小波;黄顺祥;赵华栋;刘蕾;曹婉芊;刘鑫;唐北沙;张如旭 |
| 10 | A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4 | 期刊论文 | Wang Binghao;Li Xiaobo;Wang Junpu;Liu Lei;Xie Yongzhi;Huang Shunxiang;Pakhrin Pukar Singh;Jin Qingwen;Zhu Chunmei;Tang Beisha;Niu Qi;Zhang Ruxu |
| 11 | Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families | 期刊论文 | Yongzhi Xie;Zhiqiang Lin;Pukar Singh Pakhrin;Xiaobo Li;Binghao Wang;Lei Liu;Shunxiang Huang;Huadong Zhao;Wanqian Cao;Zhengmao Hu;Jifeng Guo;Lu Shen;Beisha Tang;Ruxu Zhang |
| 12 | 中国人群腓骨肌萎缩症的分子遗传学研究 | 奖励 | 张如旭;李小波;黄顺祥;刘蕾;资晓宏;谢雍之 |
| 13 | Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China | 期刊论文 | Lei Liu;Xiao-Bo Li;Zheng-Mao Hu;Shun-Xiang Huang;Bei-Sha Tang;Ru-Xu Zhang |
| 14 | Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations | 期刊论文 | Pakhrin Pukar Singh;Xie Yongzhi;Hu Zhengmao;Li Xiaobo;Liu Lei;Huang Shunxiang;Wang Binghao;Yang Zihan;Zhang Jiejun;Liu Xin;Xia Kun;Tang Beisha;Zhang Ruxu |
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