Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

Yu, Jiaxi; Shan, Jingli; Yu, Meng; Di, Li; Xie, Zhiying; Zhang, Wei; Lv, He; Meng, Lingchao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Guo, Xueyu; Wang, Yang; Xi, Jianying; Zhu, Wenhua; Da, Yuwei; Hong, Daojun; Yuan, Yun; Yan, Chuanzhu; Wang, Zhaoxia; Deng, Jianwen.

Am J Hum Genet ; 109(3): 533-541, 2022 03 03.

Artigo em Inglês | MEDLINE | ID: mdl-35148830

2.

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.

Gu, Xinyu; Yu, Jiaxi; Jiao, Kexin; Deng, Jianwen; Xia, Xingyu; Qiao, Kai; Yue, Dongyue; Gao, Mingshi; Zhao, Chongbo; Dong, Jihong; Huang, Gongchun; Shan, Jingli; Yan, Chuanzhu; Di, Li; Da, Yuwei; Zhu, Wenhua; Xi, Jianying; Wang, Zhaoxia.

J Med Genet ; 61(4): 340-346, 2024 Mar 21.

Artigo em Inglês | MEDLINE | ID: mdl-37923380

3.

Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.

Wan, Yalan; Zhou, Chao; Chang, Xingzhi; Wu, Liwen; Zheng, Yilei; Yu, Jiaxi; Bai, Li; Luan, Mingyue; Yu, Meng; Wang, Qi; Zhang, Wei; Yuan, Yun; Deng, Jianwen; Wang, Zhaoxia.

J Med Genet ; 2024 Feb 27.

Artigo em Inglês | MEDLINE | ID: mdl-38413182

4.

CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.

Yu, Jiaxi; Liufu, Tongling; Zheng, Yilei; Xu, Jin; Meng, Lingchao; Zhang, Wei; Yuan, Yun; Hong, Daojun; Charlet-Berguerand, Nicolas; Wang, Zhaoxia; Deng, Jianwen.

Proc Natl Acad Sci U S A ; 119(41): e2208649119, 2022 10 11.

Artigo em Inglês | MEDLINE | ID: mdl-36191230

5.

Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.

Wang, Hui; Zheng, Yilei; Yu, Jiaxi; Meng, Lingchao; Zhang, Wei; Hong, Daojun; Wang, Zhaoxia; Yuan, Yun; Deng, Jianwen.

Neurobiol Dis ; 190: 106391, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-38145851

6.

Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.

Shen, Yu; Jiang, Kaiyan; Liang, Hanlin; Xiong, Ying; Song, Ziwei; Wang, Bo; Zhu, Min; Qiu, Yusen; Tan, Dandan; Wu, Chengsi; Deng, Jianwen; Wang, Zhaoxia; Hong, Daojun.

Neurol Sci ; 2024 Mar 26.

Artigo em Inglês | MEDLINE | ID: mdl-38532189

7.

Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.

Li, Zhenyu; Li, Yize; Chu, Xujun; Du, Kang; Tang, Yuwei; Xie, Zhiying; Yu, Meng; Deng, Jianwen; Lv, He; Zhang, Wei; Wang, Zhaoxia; Meng, Lingchao; Yuan, Yun.

Neuropathology ; 44(2): 87-95, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37469134

8.

Aquaporin 4 Mediates the Effect of Iron Overload on Hydrocephalus After Intraventricular Hemorrhage.

Li, Ying; Nan, Ding; Liu, Ran; Li, Jieyu; Zhang, Zhuangzhuang; Deng, Jianwen; Zhang, Yang; Yan, Ziguang; Hou, Chao; Yao, Ensheng; Sun, Weiping; Wang, Zhaoxia; Huang, Yining.

Neurocrit Care ; 40(1): 225-236, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-37208490

9.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Deng, Jianwen; Yu, Jiaxi; Li, Pidong; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Guo, Xueyu; Su, Yanan; Liang, Yu; Liang, Fan; Hayashi, Tomohiro; Maeda, Meiko Hashimoto; Sato, Tatsuro; Ura, Shigehisa; Oya, Yasushi; Ogasawara, Masashi; Iida, Aritoshi; Nishino, Ichizo; Zhou, Chang; Yan, Chuanzhu; Yuan, Yun; Hong, Daojun; Wang, Zhaoxia.

Am J Hum Genet ; 106(6): 793-804, 2020 06 04.

Artigo em Inglês | MEDLINE | ID: mdl-32413282

10.

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.

Tan, Dandan; Wei, Cuijie; Chen, Zhao; Huang, Yu; Deng, Jianwen; Li, Jingjing; Liu, Yidan; Bao, Xinhua; Xu, Jin; Hu, Zhengmao; Wang, Suxia; Fan, Yanbin; Jiang, Yizheng; Wu, Ye; Wu, Yuan; Wang, Shuang; Liu, Panyan; Zhang, Yuehua; Yang, Zhixian; Jiang, Yuwu; Zhang, Hong; Hong, Daojun; Zhong, Nanbert; Jiang, Hong; Xiong, Hui.

Mov Disord ; 38(7): 1282-1293, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37148549

11.

Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.

Hong, Daojun; Wang, Hui; Zhu, Min; Peng, Yun; Huang, Pengcheng; Zheng, Yilei; Yu, Meng; Meng, Lingchao; Li, Fan; Yu, Jiaxi; Zhou, Meihong; Deng, Jianwen; Wang, Zhaoxia; Yuan, Yun.

Eur J Neurol ; 30(2): 527-537, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36263606

12.

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.

Deng, Jianwen; Zhou, Binbin; Yu, Jiaxi; Han, Xiaochen; Fu, Jianhui; Li, Xiaobin; Xie, Xufang; Zhu, Min; Zheng, Yilei; Guo, Xueyu; Li, Pidong; Wang, Qingqing; Liu, Jing; Zhang, Wei; Yuan, Yun; Yao, Sheng; Wang, Zhaoxia; Hong, Daojun.

J Med Genet ; 59(5): 462-469, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-33766934

13.

Oculopharyngodistal myopathy.

Yu, Jiaxi; Deng, Jianwen; Wang, Zhaoxia.

Curr Opin Neurol ; 35(5): 637-644, 2022 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-35942670

14.

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

Sun, Jiayu; Su, Wenwen; Deng, Jianwen; Qin, Yao; Wang, Zhaoxia; Liu, Yuhe.

J Hum Genet ; 67(12): 691-699, 2022 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-36064591

15.

Diagnostic Value of Salivary Real-Time Quaking-Induced Conversion in Parkinson's Disease and Multiple System Atrophy.

Luan, Mingyue; Sun, Yunchuang; Chen, Jing; Jiang, Yanyan; Li, Fan; Wei, Luhua; Sun, Wei; Ma, Jinfa; Song, Lu; Liu, Jianghong; Liu, Bing; Pei, Yaohua; Wang, Zhaoxia; Zhu, Li; Deng, Jianwen.

Mov Disord ; 37(5): 1059-1063, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35278004

16.

Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report.

Wang, Hongfen; Feng, Feng; Liu, Jiajin; Deng, Jianwen; Bai, Jiongming; Zhang, Wei; Wang, Luning; Xu, Baixuan; Huang, Xusheng.

BMC Neurol ; 22(1): 150, 2022 Apr 22.

Artigo em Inglês | MEDLINE | ID: mdl-35459160

17.

The Th17/Treg cell balance: crosstalk among the immune system, bone and microbes in periodontitis.

Deng, Jianwen; Lu, Chunting; Zhao, Qingtong; Chen, Kexiao; Ma, Shuyuan; Li, Zejian.

J Periodontal Res ; 57(2): 246-255, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-34878170

18.

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.

Yu, Jiaxi; Deng, Jianwen; Guo, Xueyu; Shan, Jingli; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Zhou, Binbin; Li, Pidong; Liu, Yinzhe; Wang, Yang; Yan, Chuanzhu; Hong, Daojun; Yuan, Yun; Wang, Zhaoxia.

Brain ; 144(6): 1819-1832, 2021 07 28.

Artigo em Inglês | MEDLINE | ID: mdl-33693509

19.

A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.

Tang, Yuwei; Yu, Meng; Zhang, Wei; Lv, He; Deng, Jianwen; Liu, Jing; Shi, Xin; Liang, Wei; Jia, Zhirong; Yuan, Yun; Wang, Zhaoxia; Meng, Lingchao.

Clin Neuropathol ; 41(5): 202-210, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35603692

20.

TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response.

Wang, Peng; Deng, Jianwen; Dong, Jie; Liu, Jianghong; Bigio, Eileen H; Mesulam, Marsel; Wang, Tao; Sun, Lei; Wang, Li; Lee, Alan Yueh-Luen; McGee, Warren A; Chen, Xiaoping; Fushimi, Kazuo; Zhu, Li; Wu, Jane Y.

PLoS Genet ; 15(5): e1007947, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-31100073

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