OPDM1 LRP12

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

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

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Theerawat,Kumutpongpanich, Masashi,Ogasawara, Ayami,Ozaki, Hiroyuki,Ishiura, Shoji,Tsuji, Narihiro,Minami, Shinichiro,Hayashi, Satoru,Noguchi, Aritoshi,Iida, Ichizo,Nishino, Madoka,Mori-Yoshimura, Yasushi,Oya, Kenjiro,Ono, Toshio,Shimizu, Akihiro,Kawata, Shun,Shimohama, Keiko,Toyooka, Kaoru,Endo, Shuta,Toru, Oga,Sasaki, Kenji,Isahaya, Masanori P,Takahashi, Kazuo,Iwasa, Jun-Ichi,Kira, Tatsuya,Yamamoto, Michi,Kawamoto, Tadanori,Hamano, Kazuma,Sugie, Nobuyuki,Eura, Tomo,Shiota, Mizuho,Koide, Kanako,Sekiya, Hideaki,Kishi, Takuto,Hideyama, Shigeru,Kawai, Satoshi,Yanagimoto, Hiroyasu,Sato, Hajime,Arahata, Shigeo,Murayama, Kayoko,Saito, Hideo,Hara, Takashi,Kanda, Hiroshi,Yaguchi, Noboru,Imai, Yuichi,Kawagashira, Mitsuru,Sanada, Kazuki,Obara, Misako,Kaido, Minori,Furuta, Takashi,Kurashige, Wataru,Hara, Daisuke,Kuzume, Mamoru,Yamamoto, Jun,Tsugawa, Hitaru,Kishida, Naoki,Ishizuka, Kohei,Morimoto, Yukio,Tsuji, Atsuko,Tsuneyama, Atsuhiro,Matsuno, Ryo,Sasaki, Daigo,Tamakoshi, Erika,Abe, Shinichiro,Yamada, Akiyuki,Uzawa

JAMA neurology · 2021-07-01

Prognosis of benign epilepsy of children with centro-temporal EEG foci.

K,Takahashi, M,Saito, K,Kyo, K,Gomibuchi, S,Niijima, H,Tada, T,Honda, Y,Sato, H,Takahashi, C,Ohtsuka

The Japanese journal of psychiatry and neurology · 1990-06-01

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

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

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

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

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Hiroyuki,Ishiura, Shota,Shibata, Jun,Yoshimura, Yuta,Suzuki, Wei,Qu, Koichiro,Doi, M Asem,Almansour, Junko Kanda,Kikuchi, Makiko,Taira, Jun,Mitsui, Yuji,Takahashi, Yaeko,Ichikawa, Tatsuo,Mano, Atsushi,Iwata, Yasuo,Harigaya, Miho Kawabe,Matsukawa, Takashi,Matsukawa, Masaki,Tanaka, Yuichiro,Shirota, Ryo,Ohtomo, Hisatomo,Kowa, Hidetoshi,Date, Aki,Mitsue, Hiroyuki,Hatsuta, Satoru,Morimoto, Shigeo,Murayama, Yasushi,Shiio, Yuko,Saito, Akihiko,Mitsutake, Mizuho,Kawai, Takuya,Sasaki, Yusuke,Sugiyama, Masashi,Hamada, Gaku,Ohtomo, Yasuo,Terao, Yoshihiko,Nakazato, Akitoshi,Takeda, Yoshio,Sakiyama, Yumi,Umeda-Kameyama, Jun,Shinmi, Katsuhisa,Ogata, Yutaka,Kohno, Shen-Yang,Lim, Ai Huey,Tan, Jun,Shimizu, Jun,Goto, Ichizo,Nishino, Tatsushi,Toda, Shinichi,Morishita, Shoji,Tsuji

Nature genetics · 2019-07-22

Short tandem repeat expansions in

Lyndal,Henden, Liam G,Fearnley, Dean,Southwood, Andrew,Smith, Dominic B,Rowe, Matthew C,Kiernan, Roger,Pamphlett, Melanie,Bahlo, Ian P,Blair, Kelly L,Williams

Amyotrophic lateral sclerosis & frontotemporal degeneration · 2024-05-10

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

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.

Xinzhuang,Yang, Dingding,Zhang, Si,Shen, Pidong,Li, Mengjie,Li, Jingwen,Niu, Dongrui,Ma, Dan,Xu, Shuangjie,Li, Xueyu,Guo, Zhen,Wang, Yanhuan,Zhao, Haitao,Ren, Chao,Ling, Yang,Wang, Yu,Fan, Jianxiong,Shen, Yicheng,Zhu, Depeng,Wang, Liying,Cui, Lin,Chen, Changhe,Shi, Yi,Dai

BMC medical genomics · 2023-10-20

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Kodai,Kume, Takashi,Kurashige, Keiko,Muguruma, Hiroyuki,Morino, Yui,Tada, Mai,Kikumoto, Tatsuo,Miyamoto, Silvia Natsuko,Akutsu, Yukiko,Matsuda, Shinya,Matsuura, Masahiro,Nakamori, Ayumi,Nishiyama, Rumiko,Izumi, Tetsuya,Niihori, Masashi,Ogasawara, Nobuyuki,Eura, Tamaki,Kato, Mamoru,Yokomura, Yoshiaki,Nakayama, Hidefumi,Ito, Masataka,Nakamura, Kayoko,Saito, Yuichi,Riku, Yasushi,Iwasaki, Hirofumi,Maruyama, Yoko,Aoki, Ichizo,Nishino, Yuishin,Izumi, Masashi,Aoki, Hideshi,Kawakami

American journal of human genetics · 2023-06-19

Expanded clinical spectrum of oculopharyngodistal myopathy type 1.

Takahiro,Shimizu, Hiroyuki,Ishiura, Manato,Hara, Shota,Shibata, Atsushi,Unuma, Akatsuki,Kubota, Kaori,Sakuishi, Kiyoharu,Inoue, Jun,Goto, Yuji,Takahashi, Yuichiro,Shirota, Masashi,Hamada, Jun,Shimizu, Shoji,Tsuji, Tatsushi,Toda

Muscle & nerve · 2022-09-27

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

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.

Ran,An, Huijiao,Chen, Weiyue,Gu, Yanming,Xu, Chengqi,He

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022-03-22

GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.

Yu,Fan, Si,Shen, Jing,Yang, Dabao,Yao, Mengjie,Li, Chengyuan,Mao, Yunchao,Wang, Xiaoyan,Hao, Dongrui,Ma, Jiadi,Li, Jingjing,Shi, Mengnan,Guo, Shuangjie,Li, Yanpeng,Yuan, Fen,Liu, Zhihua,Yang, Shuo,Zhang, Zhengwei,Hu, Liyuan,Fan, Han,Liu, Chan,Zhang, Yanlin,Wang, Qingzhi,Wang, Hong,Zheng, Ying,He, Bo,Song, Yuming,Xu, Changhe,Shi

Annals of neurology · 2022-03-08

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

American journal of human genetics · 2022-02-10