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Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: yoshida t. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126
A granulocytosis associated with rufinamide: A case report.
Ide M, Kato T, Nakata M, Saito K, Yoshida T, Awaya T, Heike T. Ide M, et al. Among authors: yoshida t. Brain Dev. 2015 Sep;37(8):825-8. doi: 10.1016/j.braindev.2014.12.010. Epub 2015 Jan 22. Brain Dev. 2015. PMID: 25619447
Somatic mosaic deletions involving SCN1A cause Dravet syndrome.
Nakayama T, Ishii A, Yoshida T, Nasu H, Shimojima K, Yamamoto T, Kure S, Hirose S. Nakayama T, et al. Among authors: yoshida t. Am J Med Genet A. 2018 Mar;176(3):657-662. doi: 10.1002/ajmg.a.38596. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341473
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