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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: yamamoto t. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N. Miyatake S, et al. Among authors: yamamoto t. Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f. Epub 2012 Feb 29. Neurology. 2012. PMID: 22377813
Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Chida-Nagai A, Akagawa H, Sawai S, Ma YJ, Yakuwa S, Muneuchi J, Yasuda K, Yamazawa H, Yamamoto T, Takakuwa E, Tomaru U, Furutani Y, Kato T, Harada G, Inai K, Nakanishi T, Manabe A, Takeda A, Jing ZC. Chida-Nagai A, et al. Among authors: yamamoto t. J Am Heart Assoc. 2024 Apr 19:e032872. doi: 10.1161/JAHA.123.032872. Online ahead of print. J Am Heart Assoc. 2024. PMID: 38639351
Vulnerability of Thalamic Nuclei at CSF Interface During the Entire Course of Multiple Sclerosis.
Koubiyr I, Yamamoto T, Blyau S, Kamroui RA, Mansencal B, Planche V, Petit L, Saranathan M, Casey R, Ruet A, Brochet B, Manjón JV, Dousset V, Coupé P, Tourdias T; for OFSEP investigators. Koubiyr I, et al. Among authors: yamamoto t. Neurol Neuroimmunol Neuroinflamm. 2024 May;11(3):e200222. doi: 10.1212/NXI.0000000000200222. Epub 2024 Apr 18. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38635941 Free article.
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