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3,214 results

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Page 1
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n, matsumoto a. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H. Kato M, et al. Among authors: matsumoto n, matsumoto a. Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621294 Free article.
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T. Sakamoto S, et al. Among authors: matsumoto n, matsumoto a. Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6. Brain Dev. 2017. PMID: 27916449
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Takata A, et al. Among authors: matsumoto n, matsumoto a. Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074. Cell Rep. 2018. PMID: 29346770 Free article.
Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403
3,214 results