PMC Articles for MedGen (Select 1794166) - PMC

Result Filters

Links from MedGen

Items: 4

Select item 99686581.

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder

Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda

J Hum Genet. 2023; 68(3): 169–174. Published online 2023 Jan 20. doi: 10.1038/s10038-022-01116-y

PMCID:: PMC9968658

Article PDF–761K

Select item 92519142.

Guang Ji, Yuan Zhao, Jian Zhang, Hui Dong, Hongran Wu, Xian Chen, Xiaoming Qi, Yun Tian, Lu Shen, Guofeng Yang, Xueqin Song

BMC Neurol. 2022; 22: 243. Published online 2022 Jul 4. doi: 10.1186/s12883-022-02766-3

Correction in:: BMC Neurol. 2022; 22: 295.

PMCID:: PMC9251914

Article PDF–1.6M

Select item 89481623.

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

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

Am J Hum Genet. 2022 Mar 3; 109(3): 533–541. Published online 2022 Feb 10. doi: 10.1016/j.ajhg.2022.01.012

PMCID:: PMC8948162

Article PDF–2.0M

Select item 83202664.

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

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

Brain. 2021 Jun; 144(6): 1819–1832. Published online 2021 Mar 9. doi: 10.1093/brain/awab077