The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
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Citations
Cites
The Sequence Alignment/Map format and SAMtools
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
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C9orf72 nucleotide repeat structures initiate molecular cascades of disease
Haeusler, A. R., Donnelly, C. J., Periz, G., Simko, E. A. J., Shaw, P. G., Kim, M.-S., Maragakis, N. J., Troncoso, J. C., Pandey, A., Sattler, R., et al. (2014) · Nature · doi:10.1038/nature13124 · Cited by 978
Cited by
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0372-4 · Cited by 575
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429
Molecular mechanisms underlying nucleotide repeat expansion disorders
Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00382-6 · Cited by 363
Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.016 · Cited by 262
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Khristich, A. N., & Mirkin, S. M. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.rev119.007678 · Cited by 289
Metadata
- Authors
- Ishiura, H., Doi, K., Mitsui, J., Yoshimura, J., Matsukawa, M. K., 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, F. K., 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, K.-I., 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.
- Venue
- Nature Genetics
- Published
- 2018-03-05
- Volume
- 50
- Issue
- 4
- Pages
- 581-590
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2790182135
- Cited by
- 319
- References
- 36
- FWCI
- 26.53
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. https://app.cochat.ai/papers/10.1038/s41588-018-0067-2
- The paper
- Ishiura, H., Doi, K., Mitsui, J., Yoshimura, J., Matsukawa, M. K., 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., . . . Tsuji, S. (2018). Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nature Genetics. https://doi.org/10.1038/s41588-018-0067-2
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
