Paving a way to treat spastic paraplegia 50 von Brent, Jonathan R, Deng, Han-Xiang

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Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans von Tan, Yue-Qiu, Tu, Chaofeng, Meng, Lanlan, Yuan, Shimin, Sjaarda, Calvin, Luo, Aixiang, Du, Juan, Li, Wen, Gong, Fei, Zhong, Changgao, Deng, Han-Xiang, Lu, Guangxiu, Liang, Ping, Lin, Ge

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FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis von Deng, Han-Xiang, Zhai, Hong, Bigio, Eileen H., Yan, Jianhua, Fecto, Faisal, Ajroud, Kaouther, Mishra, Manjari, Ajroud-Driss, Senda, Heller, Scott, Sufit, Robert, Siddique, Nailah, Mugnaini, Enrico, Siddique, Teepu

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia von Deng, Han-Xiang, Chen, Wenjie, Hong, Seong-Tshool, Boycott, Kym M., Gorrie, George H., Siddique, Nailah, Yang, Yi, Fecto, Faisal, Shi, Yong, Zhai, Hong, Jiang, Hujun, Hirano, Makito, Rampersaud, Evadnie, Jansen, Gerard H., Donkervoort, Sandra, Bigio, Eileen H., Brooks, Benjamin R., Ajroud, Kaouther, Sufit, Robert L., Haines, Jonathan L., Mugnaini, Enrico, Pericak-Vance, Margaret A., Siddique, Teepu

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Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology von Kwan, Justin Y, Jeong, Suh Young, Van Gelderen, Peter, Deng, Han-Xiang, Quezado, Martha M, Danielian, Laura E, Butman, John A, Chen, Lingye, Bayat, Elham, Russell, James, Siddique, Teepu, Duyn, Jeff H, Rouault, Tracey A, Floeter, Mary Kay

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Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress von Shi, Han, Deng, Han-Xiang, Gius, David, Schumacker, Paul T, Surmeier, D James, Ma, Yong-Chao

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Identification of TMEM230 mutations in familial Parkinson's disease von Deng, Han-Xiang, Shi, Yong, Yang, Yi, Ahmeti, Kreshnik B, Miller, Nimrod, Huang, Cao, Cheng, Lijun, Zhai, Hong, Deng, Sheng, Nuytemans, Karen, Corbett, Nicola J, Kim, Myung Jong, Deng, Hao, Tang, Beisha, Yang, Ziquang, Xu, Yanming, Chan, Piu, Huang, Bo, Gao, Xiao-Ping, Song, Zhi, Liu, Zhenhua, Fecto, Faisal, Siddique, Nailah, Foroud, Tatiana, Jankovic, Joseph, Ghetti, Bernardino, Nicholson, Daniel A, Krainc, Dimitri, Melen, Onur, Vance, Jeffery M, Pericak-Vance, Margaret A, Ma, Yong-Chao, Rajput, Ali H, Siddique, Teepu

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Tyrosine phosphorylation of NLRP3 by the Src family kinase Lyn suppresses the activity of the NLRP3 inflammasome von Tang, Juan, Xiao, Yizhi, Lin, Guoxin, Guo, Hui, Deng, Han-Xiang, Tu, Sha, Langdon, Wallace Y, Yang, Huixiang, Tao, Lijian, Li, Yalan, Pope, R Marshall, Gupta, Neetu, Zhang, Jian

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Conversion to the Amyotrophic Lateral Sclerosis Phenotype Is Associated with Intermolecular Linked Insoluble Aggregates of SOD1 in Mitochondria von Deng, Han-Xiang, Shi, Yong, Furukawa, Yoshiaki, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Gorrie, George H., Khan, Mohammad S., Hung, Wu-Yen, Bigio, Eileen H., Lukas, Thomas, Canto, Mauro C. Dal, O'Halloran, Thomas V., Siddique, Teepu

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A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis von Edens, Brittany M, Yan, Jianhua, Miller, Nimrod, Deng, Han-Xiang, Siddique, Teepu, Ma, Yongchao C

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Disulfide Cross-Linked Protein Represents a Significant Fraction of ALS-Associated Cu, Zn-Superoxide Dismutase Aggregates in Spinal Cords of Model Mice von Furukawa, Yoshiaki, Fu, Ronggen, Deng, Han-Xiang, Siddique, Teepu, O'Halloran, Thomas V.

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Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS von Deng, Han-Xiang, Zhai, Hong, Shi, Yong, Liu, Guoxiang, Lowry, Jessica, Liu, Bin, Ryan, Éanna B., Yan, Jianhua, Yang, Yi, Zhang, Nigel, Yang, Zhihua, Liu, Erdong, Ma, Yongchao C., Siddique, Teepu

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Hyperactive Intracellular Calcium Signaling Associated with Localized Mitochondrial Defects in Skeletal Muscle of an Animal Model of Amyotrophic Lateral Sclerosis von Zhou, Jingsong, Yi, Jianxun, Fu, Ronggen, Liu, Erdong, Siddique, Teepu, Ríos, Eduardo, Deng, Han-Xiang

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Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly von Deng, Hao, Deng, Sheng, Xu, Hongbo, Deng, Han-Xiang, Chen, Yulan, Yuan, Lamei, Deng, Xiong, Yang, Shengbo, Guan, Liping, Zhang, Jianguo, Yuan, Hong, Guo, Yi

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Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus von Zhong, Yongwang, Wang, Jiou, Henderson, Mark J, Yang, Peixin, Hagen, Brian M, Siddique, Teepu, Vogel, Bruce E, Deng, Han-Xiang, Fang, Shengyun

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Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2 von Gorrie, George H., Fecto, Faisal, Radzicki, Daniel, Weiss, Craig, Shi, Yong, Dong, Hongxin, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Li, Sisi, Arrat, Hasan, Bigio, Eileen H., Disterhoft, John F., Martina, Marco, Mugnaini, Enrico, Siddique, Teepu, Deng, Han-Xiang

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Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2 von Radzicki, Daniel, Liu, Erdong, Deng, Han-Xiang, Siddique, Teepu, Martina, Marco

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Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse von Wang, Lijun, Deng, Han-Xiang, Grisotti, Gabriella, Zhai, Hong, Siddique, Teepu, Roos, Raymond P.

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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2 von Deng, Sheng, Feely, Shawna M. E., Shi, Yong, Zhai, Hong, Zhan, Luna, Siddique, Teepu, Deng, Han-Xiang, Shy, Michael E.

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Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies von Fecto, Faisal, Shi, Yong, Huda, Rafiq, Martina, Marco, Siddique, Teepu, Deng, Han-Xiang

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