日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification of TMEM230 mutations in familial Parkinson's disease

家族性帕金森病中 TMEM230 突变的鉴定

Han-Xiang Deng, Yong Shi, Yi Yang, Kreshnik B Ahmeti, Nimrod Miller, Cao Huang, Lijun Cheng, Hong Zhai, Sheng Deng, Karen Nuytemans, Nicola J Corbett, Myung Jong Kim, Hao Deng, Beisha Tang, Ziquang Yang, Yanming Xu, Piu Chan, Bo Huang, Xiao-Ping Gao, Zhi Song, Zhenhua Liu, Faisal Fecto, Nailah Siddi

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy

在患有常染色体显性遗传线粒体肌病的家族中,发现一种新型核编码线粒体蛋白 CHCHD10 发生突变。

Ajroud-Driss, Senda; Fecto, Faisal; Ajroud, Kaouther; Lalani, Irfan; Calvo, Sarah E; Mootha, Vamsi K; Deng, Han-Xiang; Siddique, Nailah; Tahmoush, Albert J; Heiman-Patterson, Terry D; Siddique, Teepu

Protein recycling pathways in neurodegenerative diseases

神经退行性疾病中的蛋白质回收途径

Fecto, Faisal; Esengul, Y Taylan; Siddique, Teepu

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2

表达 ALS/痴呆相关突变 UBQLN2 的转基因小鼠的树突状脊髓病

George H Gorrie, Faisal Fecto, Daniel Radzicki, Craig Weiss, Yong Shi, Hongxin Dong, Hong Zhai, Ronggen Fu, Erdong Liu, Sisi Li, Hasan Arrat, Eileen H Bigio, John F Disterhoft, Marco Martina, Enrico Mugnaini, Teepu Siddique, Han-Xiang Deng

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

UBQLN2 突变可导致显性 X 连锁青少年型和成人型 ALS 以及 ALS/痴呆症

Han-Xiang Deng, Wenjie Chen, Seong-Tshool Hong, Kym M Boycott, George H Gorrie, Nailah Siddique, Yi Yang, Faisal Fecto, Yong Shi, Hong Zhai, Hujun Jiang, Makito Hirano, Evadnie Rampersaud, Gerard H Jansen, Sandra Donkervoort, Eileen H Bigio, Benjamin R Brooks, Kaouther Ajroud, Robert L Sufit, Jonath

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations

肌萎缩侧索硬化症(伴有或不伴有 SOD1 突变)中 optineurin 的差异性作用

Han-Xiang Deng, Eileen H Bigio, Hong Zhai, Faisal Fecto, Kaouther Ajroud, Yong Shi, Jianhua Yan, Manjari Mishra, Senda Ajroud-Driss, Scott Heller, Robert Sufit, Nailah Siddique, Enrico Mugnaini, Teepu Siddique

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

家族性肌萎缩侧索硬化症和ALS/痴呆症中FUS基因的移码突变和新突变

Yan, J; Deng, H-X; Siddique, N; Fecto, F; Chen, W; Yang, Y; Liu, E; Donkervoort, S; Zheng, J G; Shi, Y; Ahmeti, K B; Brooks, B; Engel, W K; Siddique, T

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

FUS 免疫反应性包涵体是散发性和非 SOD1 家族性肌萎缩侧索硬化症的常见特征

Han-Xiang Deng, Hong Zhai, Eileen H Bigio, Jianhua Yan, Faisal Fecto, Kaouther Ajroud, Manjari Mishra, Senda Ajroud-Driss, Scott Heller, Robert Sufit, Nailah Siddique, Enrico Mugnaini, Teepu Siddique