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Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: iwama k. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126
A novel mutation in SLC1A3 causes episodic ataxia.
Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. J Hum Genet. 2018 Feb;63(2):207-211. doi: 10.1038/s10038-017-0365-z. Epub 2017 Dec 5. J Hum Genet. 2018. PMID: 29208948
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T. Yuge K, et al. Among authors: iwama k. Brain Dev. 2018 Jun;40(6):493-497. doi: 10.1016/j.braindev.2018.02.002. Epub 2018 Mar 12. Brain Dev. 2018. PMID: 29544889
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y. Itagaki R, et al. Among authors: iwama k. Mol Genet Metab. 2018 May;124(1):64-70. doi: 10.1016/j.ymgme.2018.03.007. Epub 2018 Mar 19. Mol Genet Metab. 2018. PMID: 29599076
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N. Hamanaka K, et al. Among authors: iwama k. Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. Clin Genet. 2018. PMID: 29782645 No abstract available.
A novel SLC9A1 mutation causes cerebellar ataxia.
Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17. J Hum Genet. 2018. PMID: 30018422 Clinical Trial.
180 results