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671 results

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Page 1
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Kume K, et al. Among authors: ogasawara m. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
RILPL1-related OPDM is absent in a Japanese cohort.
Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I. Eura N, et al. Among authors: ogasawara m. Am J Hum Genet. 2022 Nov 3;109(11):2088-2089. doi: 10.1016/j.ajhg.2022.10.005. Am J Hum Genet. 2022. PMID: 36332612 Free PMC article. No abstract available.
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M. Ohara H, et al. Among authors: ogasawara m. Mol Ther Nucleic Acids. 2023 Jul 17;33:404-412. doi: 10.1016/j.omtn.2023.07.011. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547287 Free PMC article.
Malignant hyperthermia and cylindrical spirals in a 4-year-old boy.
Ogasawara M, Saitoh S, Nishimori Y, Hayashi S, Iida A, Noguchi S, Nishino L. Ogasawara M, et al. Neuromuscul Disord. 2022 Oct;32(10):845-846. doi: 10.1016/j.nmd.2022.09.006. Epub 2022 Sep 21. Neuromuscul Disord. 2022. PMID: 36309463 No abstract available.
671 results