OPDM2 GIPC1

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2024-09-30

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Jianwen,Deng, Jiaxi,Yu, Pidong,Li, 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, Xueyu,Guo, Yanan,Su, Yu,Liang, Fan,Liang, Tomohiro,Hayashi, Meiko Hashimoto,Maeda, Tatsuro,Sato, Shigehisa,Ura, Yasushi,Oya, Masashi,Ogasawara, Aritoshi,Iida, Ichizo,Nishino, Chang,Zhou, Chuanzhu,Yan, Yun,Yuan, Daojun,Hong, Zhaoxia,Wang

American journal of human genetics · 2020-05-14

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.

Jianying,Xi, Xilu,Wang, Dongyue,Yue, Tonghai,Dou, Qunfeng,Wu, Jun,Lu, Yiqi,Liu, Wenbo,Yu, Kai,Qiao, Jie,Lin, Sushan,Luo, Jing,Li, Ailian,Du, Jihong,Dong, Yan,Chen, Lijun,Luo, Jie,Yang, Zhenmin,Niu, Zonghui,Liang, Chongbo,Zhao, Jiahong,Lu, Wenhua,Zhu, Yan,Zhou

Brain : a journal of neurology · 2021-03-03

gnomAD

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Japanese journal of radiology · 2022-09-28

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

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

Clinical chemistry · 2024-11-04

Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorder.

Aki,Murayama, Utako,Nagaoka, Keizo,Sugaya, Rui,Shimazaki, Kazuhito,Miyamoto, Shiro,Matsubara, Masashi,Ogasawara, Aritoshi,Iida, Ichizo,Nishino, Kazushi,Takahashi

Neuromuscular disorders : NMD · 2024-09-27

Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.

Takahiro,Hobara, Masahiro,Ando, Yujiro,Higuchi, Jun-Hui,Yuan, Akiko,Yoshimura, Fumikazu,Kojima, Yutaka,Noguchi, Jun,Takei, Yu,Hiramatsu, Satoshi,Nozuma, Tomonori,Nakamura, Tadashi,Adachi, Keiko,Toyooka, Toru,Yamashita, Yusuke,Sakiyama, Akihiro,Hashiguchi, Eiji,Matsuura, Yuji,Okamoto, Hiroshi,Takashima

Journal of neurology, neurosurgery, and psychiatry · 2024-07-16

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.

Varun,Suroliya, Bharathram,Uppili, Manish,Kumar, Vineet,Jha, Achal K,Srivastava, Mohammed,Faruq

Human genome variation · 2024-06-13

Non-coding CGG repeat expansion in

Xinyu,Gu, Jiaxi,Yu, Kexin,Jiao, Jianwen,Deng, Xingyu,Xia, Kai,Qiao, Dongyue,Yue, Mingshi,Gao, Chongbo,Zhao, Jihong,Dong, Gongchun,Huang, Jingli,Shan, Chuanzhu,Yan, Li,Di, Yuwei,Da, Wenhua,Zhu, Jianying,Xi, Zhaoxia,Wang

Journal of medical genetics · 2024-03-21

Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.

Xinyu,Gu, Kexin,Jiao, Dongyue,Yue, Xilu,Wang, Kai,Qiao, Mingshi,Gao, Jie,Lin, Chong,Sun, Chongbo,Zhao, Wenhua,Zhu, Jianying,Xi

Neuromuscular disorders : NMD · 2023-07-07

Analysis of GIPC1 CGG repeat expansions in essential tremor.

Xun,Zhou, Hong-Yan,Huang, Run-Cheng,He, Sheng,Zeng, Zhen-Hua,Liu, Qian,Xu, Ji-Feng,Guo, Xin-Xiang,Yan, Ran-Hui,Duan, Bei-Sha,Tang, Yan-Ming,Xu, Qi-Ying,Sun

Parkinsonism & related disorders · 2022-09-07

Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1.

Kexin,Jiao, Dongyue,Yue, Xinyu,Gu, Nachuan,Cheng, Xuechun,Chang, Huahua,Zhong, Xiao,Huan, Manqiqige,Su, Yufan,Zhou, Sushan,Luo, Chongbo,Zhao, Jianying,Xi, Wenhua,Zhu

Stem cell research · 2022-08-24

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

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

Annals of neurology · 2022-07-02