Altered cortical functional networks in Wilson's Disease: A resting-state electroencephalogram study

Authors: Chen, Ru-Kai, Zhang, Chan, Lin, Jian-Wei, Shi, Wu-Xiang, Li, Yu-Rong, Chen, Wan-Jin, Cai, Nai-Qing

Source: In Neurobiology of Disease November 2024 202

Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model

Authors: Zhao, Miao, Cheng, Xuewen, Chen, Lei, Zeng, Yi-Heng, Lin, Kai-Jun, Li, Yun-Lu, Zheng, Ze-Hong, Huang, Xue-Jing, Zuo, Dan-Dan, Guo, Xin-Xin, Guo, Jun, He, Dian, Liu, Ying, Lin, Yu, Wang, Chong, Lv, Wen-Qi, Su, Hui-Zhen, Yao, Xiang-Ping, Ye, Zi-Ling, Chen, Xiao-Hong, Lu, Ying-Qian, Huang, Chen-Wei, Yang, Guang, Zhang, Yu-Xian, Lin, Min-Ting, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin

Source: In Neuron 9 October 2024 112(19):3278-3294

Astrocytes modulate brain phosphate homeostasis via polarized distribution of phosphate uptake transporter PiT2 and exporter XPR1

Authors: Cheng, Xuewen, Zhao, Miao, Chen, Lei, Huang, Chenwei, Xu, Qiwu, Shao, Jia, Wang, Hong-Tao, Zhang, Yuxian, Li, Xuequan, Xu, Xuan, Yao, Xiang-Ping, Lin, Kai-Jun, Xue, Hui, Wang, Han, Chen, Qi, Zhu, Yong-Chuan, Zhou, Jia-Wei, Ge, Woo-Ping, Zhu, Shu-Jia, Liu, Jing-Yu, Chen, Wan-Jin, Xiong, Zhi-Qi

Source: In Neuron 25 September 2024 112(18):3126-3142

Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse

Authors: Jin, Ming, Lin, Jiajia, Li, Haisen, Li, Zhifang, Yang, Dong, Wang, Yin, Yu, Yuyang, Shao, Zhurui, Chen, Long, Wang, Zhiqiang, Zhang, Yu, Zhang, Xiumei, Wang, Ning, Xu, Chunlong, Yang, Hui, Chen, Wan-Jin, Li, Guoling

Source: In Molecular Therapy - Nucleic Acids 11 June 2024 35(2)

CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

Authors: Shi, Yan, Cao, Chunyan, Zeng, Yiheng, Ding, Yuanliang, Chen, Long, Zheng, Fuze, Chen, Xuejiao, Zhou, Fanggui, Yang, Xiefeng, Li, Jinjing, Xu, Liuqing, Xu, Guorong, Lin, Minting, Ishiura, Hiroyuki, Tsuji, Shoji, Wang, Ning, Wang, Zhiqiang, Chen, Wan-Jin, Yang, Kang

Source: In Journal of Genetics and Genomics February 2024 51(2):184-196

Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia

Authors: Chen, Yi‐Jun, Wang, Meng‐Wen, Qiu, Yu‐Sen, Yuan, Ru‐Ying, Wang, Ning, Lin, Xiang, Chen, Wan‐Jin

Source: Movement disorders. 38(9):1750-1755

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193047152.0x000001&indx=1&recIds=ETOCvdc_100193047152.0x000001

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Authors: He, Jin, Liu, Xiao‐Xuan, Ma, Ming‐Ming, Lin, Jing‐Jing, Fu, Jun, Chen, Yi‐Kun, Xu, Guo‐Rong, Xu, Liu‐Qing, Fu, Zhi‐Fei, Xu, Dan, Chen, Wen‐Feng, Cao, Chun‐Yan, Shi, Yan, Zeng, Yi‐Heng, Zhang, Jing, Chen, Xiao‐Chun, Zhang, Ru‐Xu, Wang, Ning, Kennerson, Marina, Fan, Dong‐Sheng, Chen, Wan‐Jin

Source: Annals of neurology. 93(2):244-256

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172985181.0x000001&indx=1&recIds=ETOCvdc_100172985181.0x000001

Short-term efficacy of repetitive transcranial magnetic stimulation in SCA3: A prospective, randomized, double-blind, sham-controlled study

Authors: Sikandar, Arif, Liu, Xia-Hua, Xu, Hao-Ling, Li, Ying, Lin, Yun-Qing, Chen, Xin-Yuan, Li, Gui-He, Lin, Min-Ting, Wang, Ning, Chen, Wan-Jin, Ni, Guo-Xin, Gan, Shi-Rui

Source: In Parkinsonism and Related Disorders January 2023 106

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

Authors: Zeng, Yi‐Heng, Yang, Kang, Du, Gan‐Qin, Chen, Yi‐Kun, Cao, Chun‐Yan, Qiu, Yu‐Sen, He, Jin, Lv, Hai‐Dong, Qu, Qian‐Qian, Chen, Jian‐Nan, Xu, Guo‐Rong, Chen, Long, Zheng, Fu‐Ze, Zhao, Miao, Lin, Min‐Ting, Chen, Wan‐Jin, Hu, Jing, Wang, Zhi‐Qiang, Wang, Ning

Source: Annals of neurology. 92(3):512-526

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158028124.0x000001&indx=1&recIds=ETOCvdc_100158028124.0x000001

dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection.

Authors: Yang, Kang, Liu, Yue, Zhang, Ji, Yu, Qian, Xu, Feng, Liu, Jiyuan, Li, Yuting, Zhang, Xiaojie, Wang, Zhiqiang, Wang, Ning, Li, Yuezhen, Shi, Yan, Chen, Wan-Jin

Source: Clinical Chemistry; Feb2025, Vol. 71 Issue 2, p319-331, 13p

Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.

Authors: Ye, Zhi-Xian, Chen, Xuan-Yu, Li, Meng-Cheng, Chen, Xin-Yuan, Qiu, Yu-Sen, Yuan, Ru-Ying, Chen, Zhi-Li, Lin, Min-Ting, Hu, Jian-Ping, Fu, Ying, Chen, Wan-Jin, Wang, Ning, Gan, Shi-Rui

Source: Orphanet Journal of Rare Diseases; 1/23/2025, Vol. 20 Issue 1, p1-11, 11p

Subject Terms: CERVICAL cord, SPINAL cord, SPINOCEREBELLAR ataxia, MEDICAL sciences, BASAL ganglia

Rethinking monogenic neurological diseases

Authors: Chen, Wan-Jin, Cheng, Xuewen, Fu, Ying, Zhao, Miao, McGinley, Jennifer, Westenberger, Ana, Xiong, Zhi-Qi

Source: BMJ: British Medical Journal, 2020 Oct 01. 371, 1-3.

Access URL: https://www.jstor.org/stable/27239489

A new varied-time photonic crystals

Authors: Wu, Xiang-Yao, Ma, Ji, Liu, Xiao-Jing, Liang, Yu, Li, Hong, Chen, Wan-Jin, Yuan, Hong-Chun, Li, Heng-Mei

Subject Terms: Physics - Optics

Access URL: http://arxiv.org/abs/1508.04959

Variable frequency photonic crystals

Authors: Wu, Xiang-Yao, Ma, Ji, Liu, Xiao-Jing, Yang, Jing-Hai, Li, Hong, Chen, Wan-Jin

Subject Terms: Physics - Optics

Access URL: http://arxiv.org/abs/1508.04299

Quantum effect of one-dimensional photonic crystal

Authors: Wu, Xiang-Yao, Ma, Ji, Liu, Xiao-Jing, Liang, Yu, Ba, Nuo, Chen, Wan-Jin, Yuan, Hong-Chun, Li, Heng-Mei

Subject Terms: Physics - Optics

Access URL: http://arxiv.org/abs/1508.04012

Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations

Authors: Lin, Jie, Zheng, Yexiang, Liu, Ying, Lin, Yi, Wang, Qiqi, Lin, Xiao‐Hong, Zhu, Wenli, Lin, Wei‐Hong, Wang, Ning, Chen, Wan‐Jin, Fu, Ying

Source: Movement disorders. 36(6):1446-1450

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123841385.0x000001&indx=1&recIds=ETOCvdc_100123841385.0x000001

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Authors: Lin, Jingjing, Li, Yun‐Lu, Chen, Bo‐Li, Su, Hui‐Zhen, Zeng, Yi‐Heng, Zeng, Rui‐Huang, Zhang, Yu‐Duo, Chen, Ru‐Kai, Cai, Nai‐Qing, Chen, Yi‐Kun, Yuan, Ru‐Ying, Jiang, Jun‐Yi, Yao, Xiang‐Ping, Wang, Ning, Chen, Wan‐Jin, Yang, Kang

Source: Annals of Clinical & Translational Neurology; Nov2024, Vol. 11 Issue 11, p2998-3009, 12p

Subject Terms: GENETIC testing, HAPLOTYPES, AGE of onset, EAST Asians, ATAXIA

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.

Authors: Lin, Shu‐Huai, Xie, Jun‐Hao, Jiang, Jun‐Yi, Yan, Xin‐Yu, Hong, Chao‐Yin, Chen, Wan‐Jin, Wang, Ning, Lin, Xiang

Source: Annals of Clinical & Translational Neurology; Nov2024, Vol. 11 Issue 11, p3019-3024, 6p

Subject Terms: MISSENSE mutation, SYMPTOMS, NEURODEGENERATION, PARAPLEGIA, FAMILIAL spastic paraplegia, SIBLINGS

Detection of pTDP‐43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis.

Authors: Zhang, Qi‐Jie, Lin, Jie, Wang, You‐Liang, Chen, Long, Ding, Ying, Zheng, Fu‐Ze, Song, Huan‐Huan, Lv, Ao‐Wei, Li, Yu‐Ying, Guo, Qi‐Fu, Lin, Min‐Ting, Hu, Wei, Xu, Liu‐Qing, Zhao, Wen‐Long, Fang, Ling, Cui, Meng‐Chao, Fu, Zhi‐Fei, Chen, Wan‐Jin, Zhang, Jing, Wang, Zhi‐Qiang

Source: Brain Pathology; Nov2024, Vol. 34 Issue 6, p1-13, 13p

Subject Terms: BICEPS brachii, TIBIALIS anterior, MOTOR neurons, NEURODEGENERATION, QUADRICEPS muscle, AMYOTROPHIC lateral sclerosis

B‐cell depletion limits HTLV‐1‐infected T‐cell expansion and ameliorate HTLV‐1‐associated myelopathy.

Authors: Lv, Aowei, Fang, Yaofeng, Lin, Xiaohong, Chen, Jiaying, Song, Huanhuan, Wang, Ning, Chen, Wan‐Jin, Fu, Ying, Li, Rui, Lin, Yi

Source: Annals of Clinical & Translational Neurology; Oct2024, Vol. 11 Issue 10, p2756-2768, 13p

Subject Terms: MONONUCLEAR leukocytes, B cells, T cells, INHIBITION of cellular proliferation, RNA sequencing