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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
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.
Yano N, Chong PF, Kojima KK, Miyoshi T, Luqman-Fatah A, Kimura Y, Kora K, Kayaki T, Maizuru K, Hayashi T, Yokoyama A, Ajiro M, Hagiwara M, Kondo T, Kira R, Takita J, Yoshida T. Yano N, et al. Among authors: yoshida t. J Med Genet. 2024 Sep 24;61(10):950-958. doi: 10.1136/jmg-2024-110056. J Med Genet. 2024. PMID: 38960580
Risk factors for psychological distress in electroencephalography technicians during the COVID-19 pandemic: A national-level cross-sectional survey in Japan.
Kuroda N, Kubota T, Horinouchi T, Ikegaya N, Kitazawa Y, Kodama S, Matsubara T, Nagino N, Neshige S, Soga T, Sone D, Takayama Y, Kuramochi I; IMPACT-J EPILEPSY (In-depth Multicenter analysis during Pandemic of Covid19 Throughout Japan for Epilepsy practice) study group. Kuroda N, et al. Epilepsy Behav. 2021 Dec;125:108361. doi: 10.1016/j.yebeh.2021.108361. Epub 2021 Oct 5. Epilepsy Behav. 2021. PMID: 34768059 Free PMC article.
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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