Zobrazeno 1 - 10
of 25
pro vyhledávání: '"TTTCA expansion"'
Autor:
Chaorong Liu, Yanmin Song, Ying Yuan, Ying Peng, Nan Pang, Ranhui Duan, Wen Huang, Xuehui Qin, Wenbiao Xiao, Hongyu Long, Sha Huang, Pinting Zhou, Lili Long, Bo Xiao
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investiga
Externí odkaz:
https://doaj.org/article/da6731e9eab64472abc8d72dc030c21b
Autor:
Xue-Hui Qin, Ying Peng, Ying Yuan, Chaorong Liu, Wen Huang, Sha Huang, Yanmin Song, Bo Xiao, Hongyu Long, Wenbiao Xiao, Nan Pang, Ranhui Duan, Pinting Zhou, Lili Long
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology
Frontiers in Neurology
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6130c33a76bd25e31e3218492536a71f
https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full
https://www.frontiersin.org/article/10.3389/fneur.2020.00068/full
Autor:
Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Publikováno v:
Epilepsia Open; Jun2023, Vol. 8 Issue 2, p659-665, 7p
Akademický článek
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Autor:
Lei, X. X., Liu, Q., Lu, Q., Huang, Y., Zhou, X. Q., Sun, H. Y., Wu, L. W., Cui, L. Y., Zhang, X.
Publikováno v:
European Journal of Neurology; Mar2019, Vol. 26 Issue 3, p513-518, 6p, 1 Diagram, 1 Chart
Autor:
Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 659-665 (2023)
Abstract Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated wit
Externí odkaz:
https://doaj.org/article/b2e5a45fd1074c5ebc0bbf673f737af7
Autor:
Pan, Sipei, Li, Xuying, Li, Liping, Lin, Hua, Wang, Dequan, Zhang, Xiating, Zhao, Xin, Ye, Jing, Huang, Zhaoyang, Lin, Yicong, Duan, Yiran, Ma, Rui, Gao, Lehong, Wang, Chaodong, Wang, Yuping
Publikováno v:
Seizure; Apr2021, Vol. 87, p69-74, 6p
Autor:
Chaisson, Mark J. P., Sulovari, Arvis, Valdmanis, Paul N., Miller, Danny E., Eichler, Evan E.
Publikováno v:
Emerging Topics in Life Sciences; Dec2023, Vol. 7 Issue 3, p361-381, 21p
Publikováno v:
Epilepsia (Series 4); Nov2023 Supplement 1, Vol. 64, p7-570, 564p
Autor:
Chintalaphani, Sanjog R.1,2 (AUTHOR), Pineda, Sandy S.3,4 (AUTHOR), Deveson, Ira W.2,5 (AUTHOR), Kumar, Kishore R.2,6 (AUTHOR) k.kumar@garvan.org.au
Publikováno v:
Acta Neuropathologica Communications. 5/25/2021, Vol. 9 Issue 1, p1-20. 20p.