FAME6 TNRC6A

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

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Hiroyuki,Ishiura, Koichiro,Doi, Jun,Mitsui, Jun,Yoshimura, Miho Kawabe,Matsukawa, Asao,Fujiyama, Yasuko,Toyoshima, Akiyoshi,Kakita, Hitoshi,Takahashi, Yutaka,Suzuki, Sumio,Sugano, Wei,Qu, Kazuki,Ichikawa, Hideaki,Yurino, Koichiro,Higasa, Shota,Shibata, Aki,Mitsue, Masaki,Tanaka, Yaeko,Ichikawa, Yuji,Takahashi, Hidetoshi,Date, Takashi,Matsukawa, Junko,Kanda, Fumiko Kusunoki,Nakamoto, Mana,Higashihara, Koji,Abe, Ryoko,Koike, Mutsuo,Sasagawa, Yasuko,Kuroha, Naoya,Hasegawa, Norio,Kanesawa, Takayuki,Kondo, Takefumi,Hitomi, Masayoshi,Tada, Hiroki,Takano, Yutaka,Saito, Kazuhiro,Sanpei, Osamu,Onodera, Masatoyo,Nishizawa, Masayuki,Nakamura, Takeshi,Yasuda, Yoshio,Sakiyama, Mieko,Otsuka, Akira,Ueki, Ken-Ichi,Kaida, Jun,Shimizu, Ritsuko,Hanajima, Toshihiro,Hayashi, Yasuo,Terao, Satomi,Inomata-Terada, Masashi,Hamada, Yuichiro,Shirota, Akatsuki,Kubota, Yoshikazu,Ugawa, Kishin,Koh, Yoshihisa,Takiyama, Natsumi,Ohsawa-Yoshida, Shoichi,Ishiura, Ryo,Yamasaki, Akira,Tamaoka, Hiroshi,Akiyama, Taisuke,Otsuki, Akira,Sano, Akio,Ikeda, Jun,Goto, Shinichi,Morishita, Shoji,Tsuji

Nature genetics · 2018-03-05

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

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

C Alejandra,Morato Torres, Faria,Zafar, Yu-Chih,Tsai, Jocelyn Palafox,Vazquez, Michael D,Gallagher, Ian,McLaughlin, Karl,Hong, Jill,Lai, Joyce,Lee, Amanda,Chirino-Perez, Angel Omar,Romero-Molina, Francisco,Torres, Juan,Fernandez-Ruiz, Tetsuo,Ashizawa, Janet,Ziegle, Francisco Javier,Jiménez Gil, Birgitt,Schüle

HGG advances · 2022-08-15

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Akane,Terasaki, Masayuki,Nakamura, Yuka,Urata, Hanae,Hiwatashi, Izumi,Yokoyama, Takeshi,Yasuda, Teiichi,Onuma, Kazumaru,Wada, Sunao,Kaneko, Rumiko,Kan, Shin-Ichi,Niwa, Ohiko,Hashimoto, Osamu,Komure, Yu-Ichi,Goto, Yuko,Yamagishi, Misa,Nakano, Yoshihiko,Furusawa, Akira,Sano

Journal of human genetics · 2020-10-10

Intronic (TTTGA)

Zhidong,Cen, You,Chen, Dehao,Yang, Qingchen,Zhu, Si,Chen, Xinhui,Chen, Bo,Wang, Fei,Xie, Zhiyuan,Ouyang, Zhengwen,Jiang, Aisi,Fu, Ben,Hu, Houmin,Yin, Xia,Qiu, Feng,Yu, Xiaoping,Du, Weicheng,Hao, Yuxi,Liu, Haotian,Wang, Lebo,Wang, Xiafei,Yu, Yichuan,Xiao, Chunyu,Liu, Jianfeng,Xiao, Yongxing,Zhou, Wei,Yang, Baorong,Zhang, Wei,Luo

Movement disorders : official journal of the Movement Disorder Society · 2019-09-04

TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.

X X,Lei, Q,Liu, Q,Lu, Y,Huang, X Q,Zhou, H Y,Sun, L W,Wu, L Y,Cui, X,Zhang

European journal of neurology · 2018-11-30

Mechanism of allele-selective inhibition of huntingtin expression by duplex RNAs that target CAG repeats: function through the RNAi pathway.

Jiaxin,Hu, Jing,Liu, Dongbo,Yu, Yongjun,Chu, David R,Corey

Nucleic acids research · 2012-10-04