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 · 2025-05-15

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 · 2025-01-16

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

Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders.

Louise,Benarroch, Pierre-Yves,Boëlle, Hélène,Madry, Badreddine,Mohand Oumoussa, Nobuyuki,Eura, Ichizo,Nishino, Karim,Labrèche, Valeriia,Gorbunova, Guillaume,Bassez, Tanya,Stojkovic, Geneviève,Gourdon, Gisèle,Bonne, Stéphanie,Tomé

Genomics, proteomics & bioinformatics · 2025-10-22

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

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

Yohei,Iguchi, Koyo,Tsujikawa, Ayuka,Murakami, Kodai,Kume, Yuka,Nakazawa, Taichi,Oso, Yosuke,Nishio, Koji,Matsuo, Yuki,Fukami, Kunihiko,Araki, Tomoo,Ogi, Hideshi,Kawakami, Masahisa,Katsuno

Internal medicine (Tokyo, Japan) · 2025-10-23

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Alessandro,Bertini, Stefano,Facchini, Ilaria,Quartesan, Riccardo,Currò, Ricardo Parolin,Schnekenberg, Natalia,Dominik, Gustavo,Alves, Lucia,Ferullo, Arianna,Tucci, Henry,Houlden, Mary M,Reilly, Andrea,Cortese

Journal of neurology, neurosurgery, and psychiatry · 2025-07-11

Comparative Genotyping of Malaysian Clinical Isolates of

Nurul Asyikin,Abdul Rahman, AbdulRahman,Muthanna, Mohd Nasir Mohd,Desa, Nurul Diana,Dzaraly, Hazmin,Hazman, Nurshahira,Sulaiman, Norfazlina,Mohamad, Maitasha Alia Meor,Yahaya, Mazen M,Jamil Al-Obaidi, Niazlin,Mohd Taib, Siti Norbaya,Masri

The Malaysian journal of medical sciences : MJMS · 2025-02-28

A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in

Wenjing,Wang, Tielun,Yin, Xinyu,Zhang, Zhaoxia,Wang, Tianyun,Wang, Shuo,Zhang, Yingshuang,Zhang, Dongsheng,Fan

Frontiers in genetics · 2025-02-27

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