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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: kawaguchi m. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN).
Kidokoro H, Yamamoto H, Kubota T, Motobayashi M, Miyamoto Y, Nakata T, Takano K, Shiba N, Okai Y, Tanaka M, Sakaguchi Y, Maki Y, Kawaguchi M, Suzuki T, Muramatsu K, Natsume J. Kidokoro H, et al. Among authors: kawaguchi m. Clin Neurophysiol. 2020 Sep;131(9):2100-2104. doi: 10.1016/j.clinph.2020.06.006. Epub 2020 Jun 25. Clin Neurophysiol. 2020. PMID: 32682237
Risks of ACTH therapy for West syndrome following BCG vaccination.
Maki Y, Natsume J, Hori I, Takeuchi T, Negishi Y, Kubota T, Maruyama K, Nakata T, Yamamoto H, Tanaka M, Kawaguchi M, Suzuki T, Shiraki A, Sawamura F, Kidokoro H. Maki Y, et al. Among authors: kawaguchi m. Epilepsy Behav. 2021 May;118:107924. doi: 10.1016/j.yebeh.2021.107924. Epub 2021 Apr 7. Epilepsy Behav. 2021. PMID: 33838621
Repetitive sleep starts: An important differential diagnosis of infantile spasms.
Maki Y, Kidokoro H, Okumura A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Kawaguchi M, Suzuki T, Tanaka M, Okai Y, Sakaguchi Y, Ohno A, Negoro T, Takahashi Y, Natsume J. Maki Y, et al. Among authors: kawaguchi m. Epilepsy Behav. 2021 Aug;121(Pt A):108075. doi: 10.1016/j.yebeh.2021.108075. Epub 2021 May 30. Epilepsy Behav. 2021. PMID: 34077901
Förster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIα activity in de novo mutations related to intellectual disability.
Fujii H, Kidokoro H, Kondo Y, Kawaguchi M, Horigane SI, Natsume J, Takemoto-Kimura S, Bito H. Fujii H, et al. Among authors: kawaguchi m. Front Mol Neurosci. 2022 Sep 1;15:970031. doi: 10.3389/fnmol.2022.970031. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36117912 Free PMC article.
Underlying Disorders in Children With Infection-Related Acute Encephalopathy.
Nakata T, Natsume J, Yamamoto H, Ito Y, Suzuki T, Kawaguchi M, Shiraki A, Kumai S, Sawamura F, Suzui R, Mitsumatsu T, Narita H, Tsuji T, Kubota T, Saitoh S, Okumura A, Kidokoro H. Nakata T, et al. Among authors: kawaguchi m. Pediatr Neurol. 2024 Jun;155:126-132. doi: 10.1016/j.pediatrneurol.2024.03.017. Epub 2024 Mar 22. Pediatr Neurol. 2024. PMID: 38636169
1,906 results