192 件中 41 - 60 件目
英語 :Takahashi S, Tanaka R, Takeguchi R, Kuroda M, Akaba Y, Ito Y , The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome. , J Neurol Sci, 416 (117041 - ) , 2020 , (IF:3.115)
英語 :Saikusa T, Kawaguchi M, Tanioka T, Nabatame S, Takahashi S, Yuge K, Nagamitsu S, Takahashi T, Yamashita Y, Kobayashi Y, Ikenaga T, Hirayama C, Kakuma T, Matsuishi T, Ito M , Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome. , Brain Dev, 42 (705 - 712) , 2020 , (IF:1.860)
英語 :Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T , PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. , Seizure, 71 (1 - 5) , 2019 , (IF:2.839)
英語 :Yazawa T, Imamichi Y, Yuhki KI, Uwada J, Mikami D, Shimada M, Miyamoto K, Kitano T, Takahashi S, Sekiguchi T, Suzuki N, Rafiqul Islam Khan M, Ushikubi F, Umezawa A, Taniguchi T , Cyclooxygenase-2 is acutely induced by CCAAT/enhancer-binding β protein to produce prostaglandin E2 and F2α following gonadotropin stimulation in Leydig cells. , Mol Reprod Dev, 86 (786 - 797) , 2019 , (IF:3.113)
英語 :Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N , Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. , J Med Genet, 56 (396 - 407) , 2019 , (IF:5.751)
英語 :Takeguchi R, Takahashi S, Kuroda M, Tanaka R, Suzuki N, Tomonoh Y, Ihara Y, Sugiyama N, Itoh M , MeCP2_e2 partially compensates for lack of MeCP2_e1: a male case of Rett syndrome , Mol Genet Genomic Med, 8 , 2019 , (IF:2.448)
英語 :Üstyol A, Takahashi S, Hatipoğlu HU, Duman MA, Elevli M, Duru HNS , A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient , Turk J Pediatr, 61 (946 - 948) , 2019 , (IF:0.275)
英語 :Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T , Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. , Brain Dev, 40 (49 - 52) , 2018 , (IF:1.52)
英語 :Shioda T, Takahashi S, Kaname T, Yamauchi T, Fukuoka T. , MECP2 mutation in a boy with severe apnea and sick sinus syndrome. , Brain Dev, 40 (714 - 718) , 2018
英語 :Akaba Y, Takahashi S, Sasaki Y, Kajino H , Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide. , Brain Dev, 40 (833 - 836) , 2018 , (IF:1.52)
英語 :Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H , Evolution into moyamoya disease in an infant with internal carotid artery aneurysms , eNeurologicalSci, 6 (80 - 82) , 2017
英語 :Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H , Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome , Clin Genet, 91 (932 - 934) , 2017 , (IF:3.892)
英語 :Imamichi Y, Sekiguchi T, Kitano T, Kajitani T, Okada R, Inaoka Y, Miyamoto K, Uwada J, Takahashi S, Nemoto T, Mano A, Khan MRI, Islam MT, Yuhki KI, Kashiwagi H, Ushikubi F, Suzuki N, Taniguchi T, Yazawa T , Diethylstilbestrol administration 1 inhibits theca cell androgen and granulosa cell estrogen production in immature rat ovary. , Sci Rep, 7 (8374 - ) , 2017 , (IF:4.259)
英語 :Okano S, Tanaka R, Okayama A, Tsuchida E, Nohara F, Suzuki N, Okamoto T, Nagaya K, Takahashi S, Azuma H , Congenital basal meningoceles with different outcomes: a case series , J Med Case Reports, 11 (359 - ) , 2017
英語 :Fujii T, Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Oguni H , Outcome of ketogenic diet for GLUT1 deficiency syndrome in Japan: nationwide survey , Brain Dev, 38 (628 - 637) , 2016 , (IF:1.88)
英語 :Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H , Reduced efficacy of enzyme replacement therapy in a child with late-onset Pompe disease. , Pediat Therapeut, 6 (2) , 2016
英語 :Araki A, Ikegami M, Okayama A, Matsumoto N, Takahashi S, Azuma H, Takahashi M , Improved prefrontal activity in ADHD children treated with atomoxetine: a NIRS study , Brain Dev, 37 (76 - 67) , 2015 , (IF:2.119)
英語 :Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H , Electroclinical features of epileptic encephalopathy caused by SCN8A mutation , Pediatr Int, 57 (758 - 762) , 2015 , (IF:0.731)
英語 : Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Fujii T, Oguni H , Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. , Brain Dev, 37 (780 - 789) , 2015 , (IF:1.542)
英語 :Yamamoto S, Takahashi S, Tanaka R, Okayama A, Araki A, Katano H, Tanaka-Taya K, Azuma H , Human herpesvirus-6 infection-associated acute encephalopathy without skin rash. , Brain Dev, 37 (829 - 832) , 2015 , (IF:1.542)
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