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799 results

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Page 1
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: maki y. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.
Kurahashi N, Miyake N, Mizuno S, Koshimizu E, Kurahashi H, Yamada K, Natsume J, Aoki Y, Nakamura M, Taniai H, Maki Y, Abe-Hatano C, Matsumoto N, Maruyama K. Kurahashi N, et al. Among authors: maki y. Brain Dev. 2017 Sep;39(8):672-677. doi: 10.1016/j.braindev.2017.03.025. Epub 2017 Apr 9. Brain Dev. 2017. PMID: 28404210
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. Hamada N, et al. Among authors: maki y. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246. Brain. 2018. PMID: 30256902
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: maki y. 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
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. Epilepsy Behav. 2021 Aug;121(Pt A):108075. doi: 10.1016/j.yebeh.2021.108075. Epub 2021 May 30. Epilepsy Behav. 2021. PMID: 34077901
Involvement of the Thalamus, Hippocampus, and Brainstem in Hypsarrhythmia of West Syndrome: Simultaneous Recordings of Electroencephalography and fMRI Study.
Maki Y, Natsume J, Ito Y, Okai Y, Bagarinao E, Yamamoto H, Ogaya S, Takeuchi T, Fukasawa T, Sawamura F, Mitsumatsu T, Maesawa S, Saito R, Takahashi Y, Kidokoro H. Maki Y, et al. AJNR Am J Neuroradiol. 2022 Oct;43(10):1502-1507. doi: 10.3174/ajnr.A7646. Epub 2022 Sep 22. AJNR Am J Neuroradiol. 2022. PMID: 36137665 Free PMC article.
Is hiragana decoding impaired in children with periventricular leukomalacia?
Kurahashi N, Futamura Y, Nonobe N, Ogaya S, Maki Y, Yoshimura I, Suzuki T, Hosokawa Y, Yamada K, Aso K, Maruyama K, Nakamura M. Kurahashi N, et al. Among authors: maki y. Brain Dev. 2018 Nov;40(10):850-856. doi: 10.1016/j.braindev.2018.05.018. Epub 2018 Jun 19. Brain Dev. 2018. PMID: 29908673
799 results