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English: Imanishi Rina, Nakau Kouichi, Shimada Sorachi, Oka Hideharu, Takeguchi Ryo, Tanaka Ryosuke, Sugiyama Tatsutoshi, Nii Mitsumaro, Okamoto Toshio, Nagaya Ken, Makita Yoshio, Yanagi Kumiko, Kaname Tadashi, Takahashi Satoru, A novel HECW2 variant in an infant with congenital long QT syndrome. , Hum Genome Var , vol.10 (1) (p.17) , 2023
English: Haga Shunsuke, Takeguchi Ryo, Tanaka Ryosuke, Satake Akira, Makita Yoshio, Yanagi Kumiko, Kaname Tadashi, Takahashi Satoru, 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 Dev , 2023
English: Takahashi Satoru, Takeguchi Ryo, Tanaka Ryosuke, Fukuoka Masataka, Koike Takayoshi, Ohtani Hideyuki, Inoue Kenji, Fukuda Mitsumasa, Kurahashi Hirokazu, Nakamura Kazuyuki, Tominaga Koji, Matsubayashi Tomoko, Itoh Masayuki, Tanaka Teruyuki, CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism. , J Neurol Sci , vol.443 (p.120498) , 2022
English: Takeguchi Ryo, Kuroda Mami, Tanaka Ryosuke, Suzuki Nao, Akaba Yuichi, Tsujimura Keita, Itoh Masayuki, Takahashi Satoru, Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study. , J Neurol Sci , vol.441 (p.120381) , 2022
English: Akaba Yuichi, Takeguchi Ryo, Tanaka Ryosuke, Makita Yoshio, Kimura Takashi, Yanagi Kumiko, Kaname Tadashi, Nishino Ichizo, Takahashi Satoru, Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review. , J Clin Neuromuscul Dis , vol.24 (1) (p.49 - 54) , 2022
English: Tanaka Ryosuke, Takeguchi Ryo, Kuroda Mami, Suzuki Nao, Makita Yoshio, Yanagi Kumiko, Kaname Tadashi, Takahashi Satoru, Novel NARS2 variant causing leigh syndrome with normal lactate levels. , Hum Genome Var , vol.9 (1) (p.12) , 2022
English: Akaba Yuichi, Takeguchi Ryo, Tanaka Ryosuke, Takahashi Satoru, 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 (3) (p.763 - 771) , 2021
English: Takeguchi Ryo, Takahashi Satoru, Akaba Yuichi, Tanaka Ryosuke, Nabatame Shin, Kurosawa Kenji, Matsuishi Toyojiro, Itoh Masayuki, Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan. , J Neurol Sci , vol.422 (p.117321) , 2021 , (IF:4.553)
English: Akaba Yuichi, Takahashi Satoru, Takeguchi Ryo, Tanaka Ryosuke, Nabatame Shin, Saitsu Hirotomo, Matsumoto Naomichi, Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome. , Clin Case Rep , vol.9 (3) (p.1711 - 1715) , 2021
English: Takahashi Satoru, Tanaka Ryosuke, Takeguchi Ryo, Kuroda Mami, Akaba Yuichi, Ito Yasushi, 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:3.181)
English: Tanaka Ryosuke, Takahashi Satoru, Kuroda Mami, Takeguchi Ryo, Suzuki Nao, Makita Yoshio, Narumi-Kishimoto Yoko, Kaname Tadashi, Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. , Epileptic Disord , vol.22 (4) (p.501 - 505) , 2020 , (IF:1.819)
English: Trivisano Marina, Ferretti Alessandro, Bebin Elizabeth, Huh Linda, Lesca Gaetan, Siekierska Aleksandra, Takeguchi Ryo, Carneiro Maryline, De Palma Luca, Guella Ilaria, Haginoya Kazuhiro, Shi Ruo Ming, Kikuchi Atsuo, Kobayashi Tomoko, Jung Julien, Lagae Lieven, Milh Mathieu, Mathieu Marie L, Minassian Berge A, Novelli Antonio, Pietrafusa Nicola, Takeshita Eri, Tartaglia Marco, Terracciano Alessandra, Thompson Michelle L, Cooper Gregory M, Vigevano Federico, Villard Laurent, Villeneuve Nathalie, Buyse Gunnar M, Demos Michelle, Scheffer Ingrid E, Specchio Nicola, Defining the phenotype of FHF1 developmental and epileptic encephalopathy. , Epilepsia , vol.61 (7) (p.e71 - e78) , 2020 , (IF:5.866)
English: Takahashi Satoru, Takeguchi Ryo, Kuroda Mami, Tanaka Ryosuke, Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant. , Mol Genet Genomic Med , vol.8 (3) (p.e1122) , 2020 , (IF:2.183)
English: Takeguchi Ryo, Takahashi Satoru, Kuroda Mami, Tanaka Ryosuke, Suzuki Nao, Tomonoh Yuko, Ihara Yukiko, Sugiyama Nobuyoshi, Itoh Masayuki, MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome. , Mol Genet Genomic Med , vol.8 (2) (p.e1088) , 2020 , (IF:2.183)
English: Takeguchi Ryo, Haginoya Kazuhiro, Uchiyama Yuri, Fujita Atsushi, Nagura Michiaki, Takeshita Eri, Inui Takehiko, Okubo Yukimune, Sato Ryo, Miyabayashi Takuya, Togashi Noriko, Saito Takashi, Nakagawa Eiji, Sugai Kenji, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi, Sasaki Masayuki, Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. , Brain Dev , vol.40 (8) (p.728 - 732) , 2018 , (IF:1.756)
English: Nakanishi K, Yamashita A, Miyamoto T, Takeguchi R, Furuya A, Matsuo K, Tanahashi Y, Kawamura M, Sengoku K, P450 oxidoreductase deficiency with maternal virilization during pregnancy. , Clin Exp Obstet Gynecol , vol.43 (6) (p.902 - 904) , 2016
English: Nagamori Tsunehisa, Oka Hideharu, Koyano Shin, Takahashi Hironori, Oki Junichi, Sato Yuko, Murono Koichi, Iseki Kenichi, Takeguchi Ryou, Takeda Takahiro, Sato Masayuki, Sugai Rika, Kitamura Hiroyuki, Kajino Hiroki, Miura Yurika, Ishioka Toru, Azuma Hiroshi, Construction of a scoring system for predicting the risk of severe gastrointestinal involvement in Henoch-Schönlein Purpura. , Springerplus , vol.3 (p.171) , 2014
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