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Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A. Kabata R, et al. Among authors: yoshida t. PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018. PLoS One. 2018. PMID: 30557356 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
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
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S. Sasaki M, et al. Among authors: yoshida t. Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15. Neurology. 2014. PMID: 24431296
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Among authors: yoshida t. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.
De novo NSF mutations cause early infantile epileptic encephalopathy.
Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T. Suzuki H, et al. Among authors: yoshida t. Ann Clin Transl Neurol. 2019 Nov;6(11):2334-2339. doi: 10.1002/acn3.50917. Epub 2019 Nov 1. Ann Clin Transl Neurol. 2019. PMID: 31675180 Free PMC article.
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