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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 2 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (cited) for id: 618073
4 results
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Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain. 2021 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021.
Brain. 2021.
PMID: 33791773
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M.
Bennett MF, et al.
Eur J Hum Genet. 2020 Jul;28(7):973-978. doi: 10.1038/s41431-020-0606-z. Epub 2020 Mar 16.
Eur J Hum Genet. 2020.
PMID: 32203200
Free PMC article.
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Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
Cen Z, Jiang Z, Chen Y, Zheng X, Xie F, Yang X, Lu X, Ouyang Z, Wu H, Chen S, Yin H, Qiu X, Wang S, Ding M, Tang Y, Yu F, Li C, Wang T, Ishiura H, Tsuji S, Jiao C, Liu C, Xiao J, Luo W.
Cen Z, et al.
Brain. 2018 Aug 1;141(8):2280-2288. doi: 10.1093/brain/awy160.
Brain. 2018.
PMID: 29939203
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.
Ishiura H, et al.
Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.
Nat Genet. 2018.
PMID: 29507423
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