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TRH therapy in a patient with juvenile Alexander disease.
Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M. Ishigaki K, et al. Among authors: saito k. Brain Dev. 2006 Nov;28(10):663-7. doi: 10.1016/j.braindev.2006.05.001. Epub 2006 Jun 13. Brain Dev. 2006. PMID: 16774812
[A case of spinal muscular atrophy type 0 in Japan].
Okamoto K, Saito K, Sato T, Ishigaki K, Funatsuka M, Osawa M. Okamoto K, et al. Among authors: saito k. No To Hattatsu. 2012 Sep;44(5):387-91. No To Hattatsu. 2012. PMID: 23012868 Japanese.
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.
Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, Ishizuka K, Funatsuka M, Saito K, Osawa M, Nagata S. Ishigaki K, et al. Among authors: saito k. Brain Dev. 2019 Jan;41(1):43-49. doi: 10.1016/j.braindev.2018.07.012. Epub 2018 Aug 1. Brain Dev. 2019. PMID: 30077507
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: saito k. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.
Harahap NIF, Niba ETE, Ar Rochmah M, Wijaya YOS, Saito T, Saito K, Awano H, Morioka I, Iijima K, Lai PS, Matsuo M, Nishio H, Shinohara M. Harahap NIF, et al. Among authors: saito k, saito t. Brain Dev. 2018 Sep;40(8):670-677. doi: 10.1016/j.braindev.2018.03.001. Epub 2018 Mar 23. Brain Dev. 2018. PMID: 29580671
8,920 results