-
KCNQ2 Variants in Neonatal Epileps
Author: Li, Yang; Li, Jing'e; Li, Lili; Zhang, Hongwei; Sun, Xiaowei
Journal: NEUROLOGY-GENETICS. 2026; Vol. 12, Issue 3, pp. -. DOI: 10.1212/NXG.0000000000200380
-
Novel VRK1 Variants and a Founder Effect in Axonal Polyneuropath
Author: Xu, Ke; Zeng, Sen; Li, Xiaobo; Li, Zhongzheng; Liu, Yue; Wang, Mengli; Xie, Yongzhi; Liu, Lei; Cao, Wanqian; Huang, Shunxiang; Zhao, Huadong; Tang, Beisha; Zhang, Ruxu
Journal: NEUROLOGY-GENETICS. 2026; Vol. 12, Issue 3, pp. -. DOI: 10.1212/NXG.0000000000200381
-
Precision Diagnosis of Wilson Disease Using a MultiGene Pane
Author: Lin, Jie; Wang, You-Liang; Qu, Yongqiang; Dong, Senwei; Fang, Yaofeng; Chen, Rukai; Ding, Ying; Lin, Weihong; Chen, Jian; Cai, Naiqing; Wang, Ning; Chen, Wan-Jin; Lin, Yi; Wang, Zhiqiang
Journal: NEUROLOGY-GENETICS. 2026; Vol. 12, Issue 2, pp. -. DOI: 10.1212/NXG.0000000000200360
-
Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopi
Author: Zhang, Yiyuan; Huang, Yanru; Huang, Xianjing; Gao, Haijie; Lin, Jin; He, Xuemei; Li, Ping; Mei, Libin
Journal: NEUROLOGY-GENETICS. 2026; Vol. 12, Issue 2, pp. -. DOI: 10.1212/NXG.0000000000200356
-
RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2
Author: Wang, Guangyu; Liu, Haoyang; Yang, Guiguan; Gu, Shen; Yan, Chuanzhu; Lin, Pengfei
Journal: NEUROLOGY-GENETICS. 2025; Vol. 11, Issue 3, pp. -. DOI: 10.1212/NXG.0000000000200259
