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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: ikeda t. Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10. Epilepsia. 2013. PMID: 23662938 Free article.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: ikeda t. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
Early manifestations of BPAN in a pediatric patient.
Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I. Okamoto N, et al. Among authors: ikeda t. Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26. Am J Med Genet A. 2014. PMID: 25263061
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.
Kasai M, Sakuma H, Abe Y, Kuki I, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Nishiyama M, Okumura A, Sakai Y, Tada H, Mizuguchi M, Takanashi JI; Japanese Pediatric Neuro-COVID-19 Study Group. Kasai M, et al. J Neurol Sci. 2024 Feb 15;457:122867. doi: 10.1016/j.jns.2024.122867. Epub 2024 Jan 3. J Neurol Sci. 2024. PMID: 38199023 Free article.
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Among authors: ikeda t. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114
6,828 results