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

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

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

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

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

Stephanie E.,Wallace, Lora JH,Bean

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

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

Clinical and neuroimaging review of triplet repeat diseases.

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

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

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

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

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

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

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

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

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

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