204 件中 41 - 60 件目
英語 ：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, 9 （1711 - 1715） , 2021
英語 ：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）
英語 ：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, 11 （2876 - ） , 2021 , （IF:2.323）
英語 ：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, 13 （763 - 771） , 2021
英語 ：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, 42 （93 - 97） , 2020 , （IF:1.756）
英語 ：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, 196 （105493 - ） , 2020 , （IF:3.785）
英語 ：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, 8 （e1122 - ） , 2020 , （IF:2.448）
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 ：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 , 22 （501 - 505） , 2020 , （IF:2.052）
英語 ：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, 29 （422 - 433） , 2020 , （IF:3.54）
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
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