1 - 14 of about 14
English: Tanaka, R. and Takeguchi, R. and Kuroda, M. and Suzuki, N. and Makita, Y. and Yanagi, K. and Kaname, T. and Takahashi, S., Novel NARS2 variant causing leigh syndrome with normal lactate levels , Human Genome Variation , vol.9 (1) (p.12 - ) , 2022
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
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: Akaba, Y. and Takeguchi, R. and Tanaka, R. and Takahashi, S., A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene , Case Reports in Neurology , vol.13 (3) (p.763 - 771) , 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
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
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
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
English: Okano Satomi, Shimada Sorachi, Tanaka Ryosuke, Okayama Akie, Kajihama Aya, Suzuki Nao, Nakau Koichi, Takahashi Satoru, Matsumoto Naomichi, Saitsu Hirotomo, Tanboon Jantima, Nishino Ichizo, Azuma Hiroshi, Life-threatening muscle complications of COL4A1-related disorder. , Brain Dev , vol.42 (1) (p.93 - 97) , 2020
English: Okano Satomi, Tanaka Ryosuke, Okayama Akie, Tsuchida Etsushi, Nohara Fumikatsu, Suzuki Nao, Okamoto Toshio, Nagaya Ken, Takahashi Satoru, Azuma Hiroshi, Congenital basal meningoceles with different outcomes: a case series. , J Med Case Rep , vol.11 (1) (p.359) , 2017
English: Tanaka Ryosuke, Takahashi Satoru, Okano Satomi, Okayama Akie, Suzuki Nao, Kure Shigeo, Azuma Hiroshi, Evolution into moyamoya disease in an infant with internal carotid artery aneurysms. , eNeurologicalSci , vol.6 (p.80 - 82) , 2017
English: Yamamoto Shiho, Takahashi Satoru, Tanaka Ryosuke, Okayama Akie, Araki Akiko, Katano Harutaka, Tanaka-Taya Keiko, Azuma Hiroshi, Human herpesvirus-6 infection-associated acute encephalopathy without skin rash. , Brain Dev , vol.37 (8) (p.829 - 832) , 2015
English: Takahashi Satoru, Tanaka Ryosuke, Okano Satomi, Okayama Akie, Suzuki Nao, Azuma Hiroshi, Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. , Mol Cytogenet , vol.8 (p.84) , 2015
English: Takahashi Satoru, Yamamoto Shiho, Tanaka Ryosuke, Okayama Akie, Araki Akiko, Azuma Hiroshi, Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures. , Epilepsy Behav Case Rep , vol.4 (p.35 - 37) , 2015
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