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Page 1
Rub epilepsy in an infant with Turner syndrome.
Magara S, Kawashima H, Kobayashi Y, Akasaka N, Yamazaki S, Tohyama J. Magara S, et al. Brain Dev. 2015 Aug;37(7):725-8. doi: 10.1016/j.braindev.2014.11.004. Epub 2014 Dec 3. Brain Dev. 2015. PMID: 25480382
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Hori I, et al. Among authors: magara s. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8. Sci Rep. 2017. PMID: 28615637 Free PMC article.
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Akita T, et al. Among authors: magara s. Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560374 Free PMC article.
Neuropsychiatric Disorder Associated with Group G Streptococcus Infection.
Okumura R, Yamazaki S, Ohashi T, Magara S, Tohyama J, Sakuma H, Hayashi M, Saitoh A. Okumura R, et al. Among authors: magara s. Case Rep Pediatr. 2018 Sep 23;2018:6047318. doi: 10.1155/2018/6047318. eCollection 2018. Case Rep Pediatr. 2018. PMID: 30345135 Free PMC article.
25 results