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11,228 results

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Page 1
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
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
Is a reversible splenial lesion a sign of encephalopathy?
Tsuji M, Yoshida T, Miyakoshi C, Haruta T. Tsuji M, et al. Among authors: yoshida t. Pediatr Neurol. 2009 Aug;41(2):143-5. doi: 10.1016/j.pediatrneurol.2009.02.019. Pediatr Neurol. 2009. PMID: 19589466
[Epileptic encephalopathy associated with human herpes virus 6 (HHV-6) encephalitis after the second cord blood transplantation in a patient with pediatric acute lymphoblastic leukemia].
Kouzuki K, Kato I, Kato T, Daifu T, Saida S, Umeda K, Hiramatsu H, Watanabe K, Ide M, Yoshida T, Imamura T, Ito K, Heike T, Adachi S. Kouzuki K, et al. Among authors: yoshida t. Rinsho Ketsueki. 2014 Dec;55(12):2418-22. doi: 10.11406/rinketsu.55.2418. Rinsho Ketsueki. 2014. PMID: 25744043 Japanese.
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.
11,228 results
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