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Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Among authors: endo w. Am J Med Genet A. 2024 Oct;194(10):e63656. doi: 10.1002/ajmg.a.63656. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760879
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. Nakayama T, et al. Among authors: endo w. Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958593
Efficacy of long term weekly ACTH therapy for intractable epilepsy.
Inui T, Kobayashi T, Kobayashi S, Sato R, Endo W, Kikuchi A, Nakayama T, Uematsu M, Takayanagi M, Kato M, Saitsu H, Matsumoto N, Kure S, Haginoya K. Inui T, et al. Among authors: endo w. Brain Dev. 2015 Apr;37(4):449-54. doi: 10.1016/j.braindev.2014.07.004. Epub 2014 Aug 20. Brain Dev. 2015. PMID: 25149137
Outcome of hemiplegic cerebral palsy born at term depends on its etiology.
Kitai Y, Haginoya K, Hirai S, Ohmura K, Ogura K, Inui T, Endo W, Okubo Y, Anzai M, Takezawa Y, Arai H. Kitai Y, et al. Among authors: endo w. Brain Dev. 2016 Mar;38(3):267-73. doi: 10.1016/j.braindev.2015.09.007. Epub 2015 Oct 1. Brain Dev. 2016. PMID: 26428444
89 results