1 - 137 of about 137
English: Mori M, Yoshii S, Noguchi M, Takagi D, Shimizu T, Ito H, Matsuo-Takasaki M, Nakamura Y, Takahashi S, Hamada H, Ohnuma K, Shiohama T, Hayashi Y, Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. , Stem Cell Res , vol.77 (p.103432 - ) , 2024 , (IF:1.2)
English: Akagi T, Saijo Y, Yoshioka E, Sato Y, Nakanishi K, Kato Y, Nagaya K, Takahashi S, Ito Y, Iwata H, Yamaguchi T, Miyashita C, Ito S, Kishi R; Japan Environment and Children's Study group; JECS., Association between maternal multimorbidity and neurodevelopment of offspring: a prospective birth cohort study from the Japan Environment and Children's Study. , BMJ Open , vol.14 (p.e082585 - ) , 2024 , (IF:2.496)
English: Ito K, Oka H, Shibagaki Y, Sasaki Y, Imanishi R, Shimada S, Akiho Y, Fukao K, Nakagawa S, Iwata K, Nakau K, Takahashi S, Left atrial vortex flow and its relationship with left atrial functions in patients with congenital heart disease. , Egypt Heart J , vol.76 (1) (p.53 - ) , 2024
English: Takeguchi R, Akaba Y, Kuroda M, Tanaka R, Tanaka T, Itoh M, Takahashi S, Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: visual and auditory evoked potentials and MRI analysis. , J Neurol Sci , 2024 , (IF:4.4)
English: Saijo Y, Yoshioka E, Sato Y, Kunori Y, Kanaya T, Nakanishi K, Kato Y, Nagaya K, Takahashi S, Ito Y, Iwata H, Yamaguchi T, Miyashita C, Itoh S, Kishi R; Japan Environment and Children’s Study (JECS) Group, Maternal pre-pregnancy body mass index and related factors: A cross-sectional analysis from the Japan Environment and Children's Study. , PLoS One , vol.19 (6) (p.e0304844 - ) , 2024 , (IF:3.7)
English: Munetsugu Hara, Toyojiro Matsuishi, Satoru Takahashi, Yushiro Yamashita, Sertraline treatment for paroxysmal nonkinesigenic dyskinesia comorbid with anxiety and depression. , eNeurologicalSci , vol.36 (p.100520 - ) , 2024
English: Yuki Sasaki • Hideharu Oka • Kouichi Nakau • Yuki Shibagaki • Keita Ito • Rina Imanishi • Sorachi Shimada • Yuki Akiho • Kazunori Fukao • Sadahiro Nakagawa • Kunihiro Iwata • Satoru Takahashi, Evaluation of Right Ventricular Myocardial Properties Using Systolic Myocardial T1 Mapping , Cureus , vol.16 (p.e67797 - ) , 2024
English: Okamoto T, Nagaya K, Nii M, Takahashi S, Non‐progressive hepatic tumor with high levels of serum alpha‐fetoprotein in two infants with trisomy 18 , Congenital Anomalies , 2024 , (IF:1.3)
English: Oka H, Sato M, Ito K, Ishibazawa E, Nagamori T, Nakau K, Takahashi S, The usefulness of parametric mapping in a patient with juvenile systemic sclerosis. , Pediatrics International , vol.66 (p.e15825 - ) , 2024 , (IF:1.0)
English: Sho Hagiwara, Tadashi Shiohama, Satoru Takahashi, Masaki Ishikawa, Yusuke Kawashima, Hironori Sato, Daisuke Sawada, Tomoko Uchida, Hideki Uchikawa, Hironobu Kobayashi, Megumi Shiota, Shin Nabatame, Keita Tsujimura, Hiromichi Hamada, Keiichiro Suzuki, Comprehensive high-depth proteomic analysis of plasma exosomes in Rett syndrome. , Biomedicines , vol.12 (p.2172 - ) , 2024 , (IF:3.9)
English: Yazawa T, Watanabe Y, Yokohama Y, Imamichi Y, Hasegawa K, Nakajima KI, Kitano T, Ida T, Sato T, Islam MS, Umezawa A, Takahashi S, Kato Y, Jahan S, Kawabe JI., Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation. , Front Endocrinol , vol.15 (p.1480722 - ) , 2024 , (IF:3.9)
English: Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi, A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication. , Hum Genome Var , vol.11 (p.40 - ) , 2024 , (IF:1.0)
English: Li R, Tsuboi H, Ito H, Takagi D, Chang YH, Shimizu T, Arai Y, Matsuo-Takasaki M, Noguchi M, Nakamura Y, Ohnuma K, Takahashi S, Hayashi Y, Generation of human induced pluripotent stem cell lines derived from two glucose transporter 1 deficiency syndrome patients , Stem Cell Res , vol.81 (p.103584 - ) , 2024 , (IF:0.8)
English: Hideharu Oka, Sadahiro Nakagawa, Kouichi Nakau, Rina Imanishi, Sorachi Shimada, Yuki Mikami, Kazunori Fukao, Kunihiro Iwata, Satoru Takahashi, Four-dimensional flow magnetic resonance imaging can visualize a disturbed pattern of blood flow in a patient without a significant pressure gradient after surgical repair of aortic coarctation , Journal of Pediatric Cardiology and Cardiac Surgery , vol.7 (p.52 - 53) , 2023
English: Haga S, Takeguchi R, Tanaka R, Satake A, Makita Y, Yanagi K, Kaname T, Takahashi S, Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study , Brain and Development , 2023 , (IF:2.272)
English: Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi, A novel HECW2 variant in an infant with congenital long QT syndrome. , Hum Genome Var , 2023 , (IF:0.586)
English: Oka H, Nakau K, Shibagaki Y, Ito K, Sasaki Y, Imanishi R, Shimada S, Takahashi S, Liver fibrosis markers represent central venous pressure in post-pubertal patients with congenital heart disease. , Cureus , 2023
English: Oka H, Nakau K, Shibagaki Y, Ito K, Sasaki Y, Imanishi R, Shimada S, Takahashi S, Postoperative evaluation of left atrial stiffness in patients with congenital heart diseases , Heart Vessels , 2023 , (IF:1.814)
English: Shibagaki Y, Oka H, Nakau K, Takahashi S, Intraventricular haemodynamic changes caused by increased left ventricular afterload in re-coarctation of aorta: a case report. , European Heart Journal - Case Reports , vol.7 (p.1 - 6) , 2023
English: Sato M, Nishibata Y, Masuda S, Nagamori T, Ishibazawa E, Yoshida Y, Takahashi H, Ishizu A, Takahashi S, Demonstration of equivocal anti-glomerular basement membrane antibody positivity as a non-specific reaction through multiple immunologic assays in a case of pediatric asymptomatic hematuria. , Clin Biochem , vol.120 (p.110650 - ) , 2023 , (IF:3.625)
English: Yazawa T, Imamichi Y, Kitano T, Islam MS, Khan MRI, Takahashi S, Sekiguchi T, Suzuki N, Umezawa A, Uwada J, Expression of Chrna9 is regulated by Tbx3 in undifferentiated pluripotent stem cells , Sci Rep , 2023 , (IF:4.379)
English: Akaba Y, Takahashi S, Suzuki K, Kosaki K, Tsujimura K, miR-514a promotes neuronal development in human iPSC-derived neurons , Frontiers in Cell and Developmental Biology , 2023 , (IF:6.081)
English: Saito S, Yamamura H, Kokumai T, Furuya A, Suzuki S, Takahahi S, Impact of small for gestational age on type 2 diabetes in obese siblings. , Pediatrics International , vol.65 (p.e15506 - ) , 2023 , (IF:1.617)
English: Suzuki S, Kokumai T, Furuya A, Takahashi S, SGLT2 inhibitor as a useful adjunctive medication for HNF4A-MODY , Diabetes Care , vol.46 (p.e74 - e75) , 2023 , (IF:17.152)
English: Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K, Associations of severity with biochemical parameters in glucose transporter 1 deficiency syndrome , Journal of the Neurological Sciences , vol.447 (p.120597 - ) , 2023 , (IF:4.553)
English: Nakanishi K, Saijo Y, Yoshioka E, Sato Y, Kato Y, Nagaya K, Takahashi S, Ito Y, Kobayashi S, Miyashita C, Ikeda-Araki A, Kishi R, the Japan Environment and Children’s Study (JECS) Group , Association between maternal multimorbidity and preterm birth, low birth weight, and small for gestational age: a prospective birth cohort study from the Japan Environment Children’s Study , BMJ Open , vol.13 (3) (p.e069281 - ) , 2023 , (IF:2.692)
English: Takeguchi R, Kuroda M, Tanaka R, Suzuki N, Akaba Y, Tsujimura K, Itoh M, Takahashi S, Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study , J Neurol Sci , vol.441 (p.120381 - ) , 2022 , (IF:4.553)
English: Nakanishi K, Saijo Y, Yoshioka E, Sato Y, Kato Y, Nagaya K, Takahashi S, Ito Y, Kobayashi S, Miyashita C, Ikeda-Araki A, Kishi R, the Japan Environment and Children’s Study (JECS) Group, Severity of low pre-pregnancy body mass index and perinatal outcomes: The Japan Environment and Children’s Study , BMC Pregnancy Childbirth , vol.22 (p.121 - ) , 2022 , (IF:4.003)
English: Akaba Y, Shiohama T, Komaki Y, Seki F, Ortug A, Sawada D, Uchida W, Kamagata K, Shimoji K, Aoki S, Takahashi S, Suzuki T, Natsume J, Takahashi E, Tsujimura K, Comprehensive volumetric analysis of Mecp2-null mouse model for Rett syndrome by T2-weighted 3D magnetic resonance imaging. , Front Neurosci , vol.16 (p.885335 - ) , 2022 , (IF:4.154)
English: Kokumai T, Suzuki S, Nishikawa N, Yamamura H, Mukai T, Tanahashi Y, Takahashi S, Early diagnosis of Wolfram syndrome by ophthalmologic screening in a patient with type 1B diabetes mellitus: A case report , J Clin Res Pediatr Endocrinol , 2022 , (IF:2.016)
English: Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, Takahashi S, Novel NARS2 variants causing Leigh syndrome with normal lactate levels. , Hum Genome Var , vol.9 (p.12 - ) , 2022 , (IF:1.893)
English: Kunori Y, Saijo Y, Yoshioka E, Sato Y, Kanaya T, Nakanishi K, Kato Y, Nagaya K, Takahashi S, Ito Y, Itoh S, Kobayashi S, Miyashita C, Ikeda-Araki A, Kishi R; Japan Environment and Children's Study (JECS) Group, Kamijima M, Yamazaki S, Ohya Y, Kishi R, Yaegashi N, Hashimoto K, Mori C, Ito S, Yamagata Z, Inadera H, Nakayama T, Sobue T, Shima M, Nakamura H, Suganuma N, Kusuhara K, Katoh T, Evaluating association of smoking status during pregnancy with adverse birth outcomes using urinary cotinine concentration: The Japan environment and Children's study (JECS) , Environ Res , 2022 , (IF:8.431)
English: Sato Y, Yoshioka E, Saijo Y, Kato Y, Nagaya K, Takahashi S, Ito Y, Kobayashi S, Ait Bamai Y, Yamazaki K, Itoh S, Miyashita C, Ikeda-Araki A, Kishi R; Japan Environment and Children's Study (JECS) Group, Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan Environment and Children's Study , Congenit Anom , 2022 , (IF:1.471)
English: Sato Y, Yoshioka E, Saijo Y, Kato Y, Nagaya K, Takahashi S, Ito Y, Kobayashi S, Ait Bamai Y, Yamazaki K, Itoh S, Miyashita C, Ikeda-Araki A, Kishi R; Japan Environment and Children’s Study (JECS) Group, Null Association Between Isolated Orofacial Clefts and Sleep Duration: A Cohort Study From the Japan Environment and Children's Study. , Cleft Palate Craniofac J , 2022 , (IF:1.915)
English: Oka H, Nakau K, Nakagawa S, Imanishi R, Shimada S, Mikami Y, Fukao K, Iwata K, Takahashi S., Liver T1/T2 values with cardiac MRI during respiration. , Cardiol Young , 2022 , (IF:1.093)
English: Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T., CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism. , Journal of the Neurological Sciences , vol.443 (p.120498 - ) , 2022 , (IF:4.553)
English: Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S., Wide spectrum of cardiac phenotype in myofibrillar myopathy associated with a BAG3 mutation: a case report and literature review. , J Clin Neuromuscul Dis , vol.24 (1) (p.49 - 54) , 2022 , (IF:0.826)
English: Yazawa T, Sato T, Nemoto T, Nagata S, Imamichi Y, Kitano T, Sekiguchi T, Uwada J, Islam MS, Mikami D, Nakajima I, Takahashi S, Khan MRI, Suzuki N, Umezawa A, Ida T, 11-Ketotestosterone is a Major Androgen Produced in Porcine Adrenal Glands and Testes. , J Steroid Biochem Mol Biol , 2021 , (IF:3.813)
English: Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M, Early diagnosis of MECP2 duplication syndrome: insights from a nationwide survey in Japan. , J Neurol Sci , vol.422 (p.117321 - ) , 2021 , (IF:3.115)
English: Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, Matsumoto N, Phenotypic overlap between FOXG1 syndrome and PDH deficiency. , Clin Case Rep , vol.9 (p.1711 - 1715) , 2021
English: Yazawa T, Inaba H, Imamichi Y, Sekiguchi T, Uwada J, Islam S, Orisaka M, Mikami D, Ida T, Sato T, Miyashiro Y, Takahashi S, Khan MRI, Suzuki N, Umezawa A, Kitano T, Profiles of 5alpha-reduced androgens in humans and eels: 5alpha-dihydrotestosterone and 11-ketodihydrotestosterone are active androgens produced in eel gonads , Front Endocrinol , vol.126 (p.657360 - ) , 2021 , (IF:3.675)
English: Wakabayashi T, Fukumura S, Takahashi S, Kurosawa K, Miyamoto S, Tsuchida K, Kato S, Tsugawa T, Sakai Y, Kawasaki Y, Stereotyped upper limb movement in MECP2 duplication syndrome , Neurology , 2021 , (IF:8.77)
English: Islam S, Uwada J, Hayashi J, Kikuya K, Muranishi A, Watanabe H, Yaegashi K, Hasegawa K, Ida T, Sato T, Imamichi Y, Kitano T, Miyashiro Y, Khan RI, Takahashi S, Umezawa A, Suzuki N, Sekiguchi T, Yazawa T., Analyses of molecular characteristics and enzymatic activities of ovine HSD17B3. , Animals , vol.11 (p.2876 - ) , 2021 , (IF:2.323)
English: Akaba Y, Takeguchi R, Tanaka R, Takahashi S., A complex phenotype of a patient with spastic paraplegia type 4 caused by a novel pathogenic variant in the SPAST gene. , Case Rep Neurol , vol.13 (p.763 - 771) , 2021
English: Takahashi S, Takeguchi R, Kuroda M, Tanaka R, Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant , Mol Genet Genomic Med , vol.8 (p.e1122 - ) , 2020 , (IF:2.448)
English: 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 , vol.42 (p.705 - 712) , 2020 , (IF:1.860)
English: 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 , vol.416 (p.117041 - ) , 2020 , (IF:3.115)
English: Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T, Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. , Epileptic Disord , vol.22 (p.501 - 505) , 2020 , (IF:2.052)
English: Bergsma AJ, In 't Groen SLM, Catalano F, Yamanaka F, Takahashi S, Okumiya T, van der Ploeg AT, Pijnappel WWMP, A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease. , Eur J Hum Genet , vol.29 (p.422 - 433) , 2020 , (IF:3.54)
English: Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H, Life-threatening muscle complications of COL4A1-related disorder , Brain Dev , vol.42 (p.93 - 97) , 2020 , (IF:1.756)
English: Yazawa T, Imamichi Y, Uwada J, Sekiguchi T, Mikami D, Kitano T, Ida T, Sato T, Nemoto T, Nagata S, khan r, Takahashi S, Ushikubi F, Suzuki N, Umezawa A, Taniguchi T, Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation. , J Steroid Biochem Mol Biol , vol.196 (p.105493 - ) , 2020 , (IF:3.785)
English: 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 , vol.86 (p.786 - 797) , 2019 , (IF:3.113)
English: 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 , vol.8 , 2019 , (IF:2.448)
English: 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 , vol.61 (p.946 - 948) , 2019 , (IF:0.275)
English: 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 , vol.56 (p.396 - 407) , 2019 , (IF:5.751)
English: 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 , vol.71 (p.1 - 5) , 2019 , (IF:2.839)
English: Shioda T, Takahashi S, Kaname T, Yamauchi T, Fukuoka T., MECP2 mutation in a boy with severe apnea and sick sinus syndrome. , Brain Dev , vol.40 (p.714 - 718) , 2018
English: Akaba Y, Takahashi S, Sasaki Y, Kajino H, Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide. , Brain Dev , vol.40 (p.833 - 836) , 2018 , (IF:1.52)
English: 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 , vol.40 (p.49 - 52) , 2018 , (IF:1.52)
English: 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 , vol.91 (p.932 - 934) , 2017 , (IF:3.892)
English: 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 , vol.7 (p.8374 - ) , 2017 , (IF:4.259)
English: 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 , vol.11 (p.359 - ) , 2017
English: 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 , vol.6 (p.80 - 82) , 2017
English: 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 , vol.38 (p.628 - 637) , 2016 , (IF:1.88)
English: 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 , vol.6 (2) , 2016
English: 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 , vol.37 (p.76 - 67) , 2015 , (IF:2.119)
English: 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 , vol.8 (p.84 - ) , 2015 , (IF:2.14)
English: 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 , vol.57 (p.758 - 762) , 2015 , (IF:0.731)
English: 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 , vol.37 (p.829 - 832) , 2015 , (IF:1.542)
English: 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 , vol.37 (p.780 - 789) , 2015 , (IF:1.542)
English: 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 , vol.4 (p.35 - 37) , 2015
English: 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 , vol.55 (p.994 - 1000) , 2014 , (IF:3.909)
English: 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 , vol.5 (p.233 - ) , 2014
English: 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 , vol.11 (p.28 - ) , 2014 , (IF:4.35)
English: 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 , vol.8 (p.174 - ) , 2014 , (IF:0.36)
English: 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 , vol.73 (p.48 - 57) , 2013 , (IF:11.089)
English: 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 , vol.36 (p.794 - 800) , 2013 , (IF:2.119)
English: 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 , vol.49 (p.493 - 496) , 2013 , (IF:1.416)
English: Kumakura A, Takahashi S, Okajima K, Hata D, A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome , Brain Dev , vol.36 (p.725 - 729) , 2013 , (IF:2.119)
English: Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A, FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome , Clin Genet , vol.82 (p.569 - 573) , 2012 , (IF:3.128)
English: 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 , vol.34 (p.372 - 375) , 2012 , (IF:2.119)
English: Tachi N, Takahashi S, Jo M, Shinoda M, A new mutation of GCH1 in triplets family with dopa-responsive dystonia , Eur J Neurol , vol.18 (p.1191 - 1193) , 2011 , (IF:3.692)
English: Xiaojuan H, Takahashi S, Suzuki H, Hashikawa T, Kulkarni AB, Mikoshiba K, Ohshima T, Hypomyelination phenotype caused by impaired differentiation of oligodendrocytes in Emx1-cre mediated Cdk5 conditional knockout mice , Neurochem Res , vol.36 (p.1293 - 1303) , 2011 , (IF:2.722)
English: Hara M, Nishi Y, Yamashita Y, Yoh J, Takahashi S, Nagamitsu SI, Kakuma T, Hosoda H, Kangawa K, Kojima M, Matsuishi T, Ghrelin levels are reduced Rett syndrome patients with eating difficulties , Int J Dev Neurosci , vol.29 (p.899 - 902) , 2011 , (IF:2.418)
English: Takahashi S, Ohshima T, Hirasawa M, Pareek TK, Bugge TH, Morozov A, Fujieda K, Brady RO, Kulkarni AB, Conditional deletion of neuronal cyclin-dependent kinase 5 in developing forebrain results in microglial activation and neurodegeneration. , Am J Pathol , vol.176 (p.320 - 329) , 2010 , (IF:5.697)
English: Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M, Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis. , Brain Dev , vol.32 (p.445 - 453) , 2010 , (IF:2.119)
English: Tanaka H, Amamiya S, Takahashi S, Suzuki N, Araki A, Ohinata J, Fujieda K, Effect of neonatal hypoxia on the development of intraspinal serotonergic fibers in relation to spinal motoneurons. , Brain Dev , vol.32 (4) (p.268 - 274) , 2010 , (IF:2.119)
English: Okamoto T, Takahashi S, Nakamura E, Nagaya K, Hayashi T, Shirai M, Fujieda K, Increased expression of matrix metalloproteinase-9 and hepatocyte growth factor in the cerebrospinal fluid of infants with posthemorrhagic hydrocephalus , Early Hum Dev , vol.86 (p.251 - 254) , 2010 , (IF:2.122)
English: Zheng YL, Li BS, Rudrabhatla P, Shukla V, Amin ND, Maric D, Kesavapany S, Kanungo J, Pareek TK, Takahashi S, Grant P, Kulkarni AB, Pant HC, Phosphorylation of p27Kip1 at Thr187 by Cyclin-dependent Kinase 5 Modulates Neural Stem Cell Differentiation , Mol Biol Cell , vol.21 (p.3601 - 3614) , 2010 , (IF:5.979)
English: Matsumoto N, Takahashi S, Toriumi N, Sarashina T, Makita Y, Tachibana Y, Fujieda K, Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti. , Brain Dev , vol.31 (p.625 - 628) , 2009 , (IF:2.119)
English: Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K, Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing, , J Hum Genet , vol.54 (p.493 - 496) , 2009 , (IF:2.431)
English: Okamoto T, Takahashi S, Nakamura E, Nagaya K, Hayashi T, Fujieda K, Transforming growth factor-b1 induces matrix metalloproteinase-9 expression in human meningeal cells via ERK and Smad pathways , Biochem Biophys Res Comm , vol.383 (p.475 - 479) , 2009 , (IF:2.648)
English: Okamoto T, Takahashi S, Nakamura E, Nagaya K, Hayashi T, Shirai M and Fujieda K, Matrix metalloproteinases in infants with posthemorrhagic hydrocephalus. , Early Hum Dev , vol.84 (p.137 - 139) , 2008 , (IF:1.738)
English: Ohinata J, Suzuki N, Araki A, Takahashi S, Fujieda K, Tanaka H, Actigraphic assessment of sleep disorders in children with chronic fatigue syndrome , Brain Dev , vol.30 (p.329 - 333) , 2008 , (IF:2.119)
English: Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K, Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. , Clin Genet , vol.73 (p.257 - 261) , 2008 , (IF:3.206)
English: Takahashi S, Ohinata J, Suzuki N, Amamiya S, Kajihama A, Sugai R, Araki A, Fujieda K, Tanaka H, Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: A successful use of zonisamide for controlling the seizures. , Epilepsy Res , vol.80 (p.18 - 22) , 2008 , (IF:2.405)
English: Okamoto T, Shirai M, Kokubo M, Takahashi S, Kajino M, Takase M, Sakata H and Oki J, Human milk reduces the risk of retinal detachment in extremely low birth weight infants. , Pediatr Int , vol.49 (p.894 - 897) , 2007 , (IF:0.7)
English: Takahashi S, Ohshima T, Cho A, Sreenath T, Iadarola MJ, Pant HC, Kim Y, Nairn AC, Brady RO, Greengard P and Kulkarni AB:, Increased activity of cyclin-dependent kinase 5 leads to attenuation of cocaine-mediated dopamine signaling. , Proc Natl Acad Sci USA , vol.102 (p.1737 - 1742) , 2005 , (IF:9.643)
English: Griffin SV, Hiromura K, Pippin J, Petermann AT, Blonski MJ, Krofft R, Takahashi S, Kulkarni AB, and Shankland SJ, Cyclin-dependent kinase 5 is a regulator of podocyte differentiation, proliferation, and morphology. , Am J Pathol , vol.165 (p.1175 - 1185) , 2004 , (IF:5.697)
English: Takahashi S, Kulkarni AB, Mutant superoxide dismutase 1 causes motor neuron degeneration independent of cyclin-dependent kinase 5 activation by p35 or p25. , J Neurochem , vol.88 (p.1295 - 1304) , 2004 , (IF:4.26)
English: Hirasawa M, Ohshima T, Takahashi S, Veeranna, Pant HC, Mikoshiba K, Brady RO and Kulkarni AB, Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects. , Proc Natl Acad Sci USA , vol.101 (p.6249 - 6254) , 2004 , (IF:9.643)
English: Kesavapany S, Amin N, Zheng YL, Nijhara R, Jaffe H, Sihag R, Gutkind JS, Takahashi S, Kulkarni AB, Grant P and Pant HC, p35/cyclin-dependent kinase 5 phosphorylation of Ras guanine nucleotide releasing factor 2 (RasGRF2) mediates Rac-dependent extracellular signal-regulated kinase 1/2 activity, altering RasGRF2 and microtubule-associated protein 1b distribution in neurons. , J Neurosci , vol.24 (p.4421 - 4431) , 2004 , (IF:7.453)
English: Li BS, Ma W, Jaffe H, Zheng Y, Takahashi S, Zhang L, Kulkarni AB, Pant HC, Cdk5 is involved in neuregulin-dependent activation of PI-3 kinase and Akt activity mediating neuronal survival , J Biol Chem , vol.278 (p.35702 - 35709) , 2003 , (IF:5.328)
English: Takahashi S, Saito T, Hisanaga S, Pant HC, Kulkarni AB, Tau phosphorylation by cyclin-dependent kinase 5/p39 during brain development reduces its affinity for microtubules , J Biol Chem , vol.278 (p.10506 - 10515) , 2003 , (IF:5.328)
English: Ohshima T, Ogawa M, Takeuchi K, Takahashi S, Kulkarni AB, Mikoshiba K, Cyclin-dependent kinase 5/p35 contributes synergistically with Reelin/Dab1 to the positioning of facial branchiomotor and inferior olive neurons in the developing mouse hindbrain , J Neurosci , vol.22 (p.4036 - 4044) , 2002 , (IF:7.178)
English: Li BS, Zhang L, Takahashi S, Ma W, Jaffe H, Kulkarni AB, Pant HC, Cyclin-dependent kinase 5 prevents neuronal apoptosis by negative regulation of c-Jun N-terminal kinase 3 , EMBO J , vol.21 (p.324 - 333) , 2002 , (IF:8.993)
English: Li BS, Sun MK, Zhang L, Takahashi S, Ma W, Vinade L, Kulkarni AB, Brady RO, Pant HC, Regulation of NMDA receptors by cyclin-dependent kinase-5 , Proc Natl Acad Sci USA , vol.98 (p.12742 - 12747) , 2001 , (IF:9.432)
English: Takahashi S, Ohsugi K, Yamamoto T, Shiomi M, Sakuragawa N, A novel approach to ex vivo gene therapy for familial hypercholesterolemia using human amniotic epithelial cells as a transgene carrier , Tohoku J Exp Med , vol.193 (p.279 - 292) , 2001 , (IF:1.347)
English: Kosuga M, Takahashi S, Tanabe A, Fujino M, Li XK, Suzuki S, Yamada M, Kakishita K, Ono F, Sakuragawa N, Okuyama T, Widespread distribution of adenovirus-transduced monkey amniotic epithelial cells after local intracerebral injection: implication for cell-mediated therapy for lysosome storage disorders , Cell Transplant , vol.10 (p.435 - 439) , 2001 , (IF:5.126)
English: Ko J, Humbert S, Bronson RT, Takahashi S, Kulkarni AB, Li E, Tsai LH, p35 and p39 are essential for cyclin-dependent kinase 5 function during neurodevelopment , J Neurosci , vol.21 (p.6758 - 6771) , 2001 , (IF:7.178)
English: Oki J, Takahashi S, Miyamoto A, Tachibana Y, Cerebellar hypoperfusion and developmental dysphasia in a male , Pediatr Neurol , vol.21 (p.745 - 748) , 1999 , (IF:1.497)
English: Takahashi S, Oki J, Miyamoto A, Koyano S, Ito K, Azuma H, Okuno A, Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection , Eur J Pediatr , vol.158 (p.133 - 137) , 1999 , (IF:1.634)
English: Takahashi S, Oki J, Miyamoto A, Okuno A, Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome , Brain Dev , vol.21 (p.200 - 204) , 1999 , (IF:1.743)
English: Takahashi S, Oki J, Miyamoto A, Moriyama T, Asano A, Inyaku F, Okuno A, Beta-2-microglobulin and ferritin in cerebrospinal fluid for evaluation of patients with meningitis of different etiologies , Brain Dev , vol.21 (p.192 - 199) , 1999 , (IF:1.743)
English: Takahashi S, Tanaka H, Oki J, Development of spinal motoneurons in rats after a neonatal hypoxic insult , Pediatr Neurol , vol.21 (p.715 - 720) , 1999 , (IF:1.497)
English: Oki J, Miyamoto A, Takahashi S, Takei H, Cognitive deterioration associated with focal dysplasia , Pediatr Neurol , vol.20 (p.73 - 77) , 1999 , (IF:1.497)
English: Takahashi S, Makita Y, Oki J, Miyamoto A, Yanagawa J, Naito E, Goto Y, Okuno A, De novo mtDNA nt8993 (T>G) mutation resulting in Leigh syndrome , Am J Hum Genet , vol.62 (p.717 - 719) , 1998 , (IF:12.303)
English: Takahashi S, Oki J, Miyamoto A, Okuno A, Hemidystonia, hemichorea and motor aphasia associated with bilateral ischemic lesions in the striatum: Regional cerebral blood flow studies to clarify the pathophysiology , J Child Neurol , vol.13 (p.408 - 411) , 1998 , (IF:1.592)
English: Oki J, Miyamoto A, Takahashi S, Itoh J, Sakata Y, Okuno A, Cyclic vomiting and elevation of creatine kinase associated with bitemporal hypoperfusion and EEG abnormalities: a migraine equivalent? , Brain Dev , vol.20 (p.186 - 189) , 1998 , (IF:1.743)
English: Tanaka H, Oki J, Takahashi S, Miyamoto A, Cho K, Okuno A, Effects of neonatal hypoxia on the medulla-spinal cord descending neurons , Pediatr Neurol , vol.19 (p.204 - 210) , 1998 , (IF:1.497)
English: Miyamoto A, Oki J, Takahashi S, Okuno A, Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome , Brain Dev , vol.21 (p.59 - 62) , 1998 , (IF:1.743)
English: Saijo H, Tanaka H, Ito J, Tasaki T, Cho K, Tokumitsu A, Takahashi S, Miyamoto A, Oki J, Pyruvate dehydrogenase complex deficiency with multiple minor anomalies , Acta Paediatri Jpn , vol.39 (p.230 - 232) , 1997 , (IF:0.707)
English: Takahashi S, Makita Y, Okamoto N, Miyamoto A, Oki J, L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling , Brain Dev , vol.19 (p.559 - 562) , 1997 , (IF:1.743)
English: Takahashi S, Oki J, Miyamoto A, Tokumitsu A, Obata M, Ogawa K, Tokusashi Y, Saijo H, Okuno A, Autopsy findings in pyruvate dehydrogenase E1α deficiency: case report , J Child Neurol , vol.12 (p.519 - 524) , 1997 , (IF:1.592)
English: Azuma H, Makita Y, Araki A, Miyamoto A, Tsuchida A, Takahashi S, Ooshima M, Okuno A, Elevated interleukin 6 without pleocytosis in cerebrospinal fluid in encephalitis patients , Eur J Pediatr , vol.156 (p.507 - 508) , 1997 , (IF:1.634)
English: Miyamoto A, Oki J, Takahashi S, Itoh J, Kusunoki Y, Cho K, Serial imaging in MELAS , Neuroradiology , vol.39 (p.427 - 430) , 1997 , (IF:2.616)
English: Miyamoto A, Yamamoto M, Takahashi S, Oki J, Classical Rett syndrome in sisters: variability of clinical expression , Brain Dev , vol.19 (p.492 - 494) , 1997 , (IF:1.743)
English: Tanaka H, Takahashi S, Miyamoto A, Oki J, Cho K, Okuno A, Developmental changes in the noradrenergic innervations of spinal motoneurons in neonatal rats , Pediatr Neurol , vol.14 (p.21 - 27) , 1996 , (IF:1.497)
English: Takahashi S, Miyamoto A, Oki J, Okuno A, CTG trinucleotide repeat length and clinical expression in a family with myotonic dystrophy , Brain Dev , vol.18 (p.127 - 130) , 1996 , (IF:1.743)
English: Okamoto N, Wada Y, Kawabata H, Ishikiriyama S, Takahashi S, A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus , Jpn J Human Genet , vol.41 (p.431 - 437) , 1996 , (IF:2.547)
English: Miyamoto A, Takahashi S, Tokumitsu A, Oki J, Ictal HMPAO-single photon emission computed tomography findings in reading epilepsy in a Japanese boy , Epilepsia , vol.36 (p.1161 - 1163) , 1995 , (IF:4.052)
English: Takahashi S, Miyamoto A, Oki J, Azuma H, Okuno A, Acute transverse myelitis caused by ECHO virus type 18 infection , Eur J Pediatr , vol.154 (p.378 - 380) , 1995 , (IF:1.634)
English: Takahashi S, Miyamoto A, Oki J, Saino T, Inyaku F, Alobar holoprosencephaly with diabetes insipidus and neuronal migrational disorder , Pediatr Neurol , vol.13 (p.175 - 177) , 1995 , (IF:1.497)
English: Tanaka H, Takahashi S, Miyamoto A, Oki J, Cho K, Okuno A, Effects of neonatal hypoxia on brainstem cholinergic neurons – pedunculopontine nucleus and lateral tegmental nucleus – , Brain Dev , vol.17 (p.264 - 270) , 1995 , (IF:1.743)
English: Oki J, Yoshida H, Imanishi A, Takahashi S, Miyamoto A, Yoda M, Miura J, Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection , Brain Dev , vol.17 (p.356 - 359) , 1995 , (IF:1.743)
English: Takahashi S, Mitamura R, Ito Y, Suzuki N, Okuno A, Hashimoto encephalopathy: Etiological considerations , Pediatr Neurol , vol.11 (p.328 - 331) , 1994 , (IF:1.497)
English: Saijo M, Takahashi S, Kokubo M, Saino T, Ishii F, Inyaku F, Takimoto M, Takahashi Y, The role of respiratory syncytial virus in acute bronchiolitis in small children in northern Japan , Acta Paediatr Jpn , vol.36 (p.371 - 374) , 1994 , (IF:0.707)
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