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497 results

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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: ishiyama a. 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.
Unusual exocrine complication of pancreatitis in mitochondrial disease.
Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto Y, Sasaki M. Ishiyama A, et al. Brain Dev. 2013 Aug;35(7):654-9. doi: 10.1016/j.braindev.2012.10.015. Epub 2012 Nov 22. Brain Dev. 2013. PMID: 23182449
Effects of clonazepam on self-induced photoparoxysmal responses.
Saito Y, Matsuda Y, Sugai K, Nakagawa E, Ishiyama A, Saito T, Komaki H, Sasaki M, Miyata A. Saito Y, et al. Among authors: ishiyama a. Brain Dev. 2014 Apr;36(4):337-41. doi: 10.1016/j.braindev.2013.04.014. Epub 2013 May 23. Brain Dev. 2014. PMID: 23706378
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M. Okubo M, et al. Among authors: ishiyama a. Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712306
Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.
Motoki T, Shimizu-Motohashi Y, Komaki H, Mori-Yoshimura M, Oya Y, Takeshita E, Ishiyama A, Saito T, Nakagawa E, Sugai K, Murata M, Sasaki M. Motoki T, et al. Among authors: ishiyama a. Neuromuscul Disord. 2015 Oct;25(10):754-7. doi: 10.1016/j.nmd.2015.07.006. Epub 2015 Jul 29. Neuromuscul Disord. 2015. PMID: 26298609
497 results