204 件中 61 - 80 件目
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)
英語 :Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H , Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures. , Epilepsy Behavior Case Reports, 4 (35 - 37) , 2015
英語 :Takahashi S, Tanaka R, Okano S, Suzuki N, Okayama A, Azuma H , Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence , Mol Cytogenet, 8 (84 - ) , 2015 , (IF:2.14)
英語 :Matsumoto N, Takahashi S, Okayama A, Araki A, Azuma H , Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case report , J Med Case Reports, 8 (174 - ) , 2014 , (IF:0.36)
英語 :Utreras E, Hamada R, Prochazkova M, Terse A, Takahashi S, Ohshima T, Kulkarni AB , Suppression of neuroinflammation in forebrain-specific Cdk5 conditional knockout mice by PPAR-gamma agonist improves neuronal loss and early lethality , J Neuroinflammation, 11 (28 - ) , 2014 , (IF:4.35)
英語 :Ohba C, Kato M, Takahashi S, Terashima H, Kubota M, Matsufuji M, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Goldberg-Stern H, Straussberg R, Marom D, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H , Early onset epileptic encephalopathy caused by de novo SCN8A mutations , Epilepsia, 55 (994 - 1000) , 2014 , (IF:3.909)
英語 :Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Kajino H, Azuma H , A novel mutation of the SCN4A gene in a Japanese family with paramyotonia congenita. , J Neurol Neurophysiol , 5 (233 - ) , 2014
英語 :Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama K, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H , Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly , Ann Neurol , 73 (48 - 57) , 2013 , (IF:11.089)
英語 :Hara M, Nishi Y, Yamashita Y, Hirata R, Takahashi S, Nagamitsu S, Hosoda H, Kangawa K, Kojima M, Matsuishi, T , Relation between circulating levels of GH, IGF-1, ghrelin and somatic growth in Rett Syndrome , Brain Dev, 36 (794 - 800) , 2013 , (IF:2.119)
英語 :Kumakura A, Takahashi S, Okajima K, Hata D , A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome , Brain Dev, 36 (725 - 729) , 2013 , (IF:2.119)
英語 :Shiohama T, Fujii K, Takahashi S, Nakamura F, Kohno Y , Reversible t2 prolongations appear in the energy deprivation period in glucose transporter 1 deficiency syndrome , Pediatr Neurol, 49 (493 - 496) , 2013 , (IF:1.416)
英語 :Kitamura Y, Okumura A, Hayashi M, Mori H, Takahashi S, Yanagihara K, Miyata R, Tanuma N, Mimaki T, Abe S, Shimizu T , Oxidative stress markers and phosphorus magnetic resonance spectroscopy in a patient with GLUT1 deficiency treated with modified Atkins diet , Brain Dev, 34 (372 - 375) , 2012 , (IF:2.119)
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