Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Autor: Sonoda Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Torio M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Mukaino T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan., Matsukura M; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Yonemoto K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Hatae K; Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan., Ichimiya Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Chong PF; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Ochiai M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan., Wada Y; Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Kadoya M; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan., Okamoto N; Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research, Saitama, Japan; Takeda-CiRA Joint Program (T-CiRA), Kanagawa, Japan., Isobe N; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Shigeto H; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: sakai.yasunari.530@m.kyushu-u.ac.jp., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104895. Date of Electronic Publication: 2023 Dec 07.

Localization of EGFR Mutations in Non-small-cell Lung Cancer Tissues Using Mutation-specific PNA-DNA Probes.

Autor: Shigeto H; Health and Medical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), Kagawa, Japan., Miyata H; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Ashizawa T; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Iizuka A; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Kikuchi Y; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Hozumi C; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Maeda C; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan., Yamaguchi K; Shizuoka Cancer Center, Shizuoka, Japan., Yamamura S; Health and Medical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), Kagawa, Japan., Akiyama Y; Immunotherapy Division, Shizuoka Cancer Center Research Institute, Shizuoka, Japan; y.akiyama@scchr.jp.

Publikováno v: Cancer genomics & proteomics [Cancer Genomics Proteomics] 2023 Jul-Aug; Vol. 20 (4), pp. 375-382.

FRET probe for detecting two mutations in one EGFR mRNA.

Autor: Thu M; Department of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama, Japan. ohtsuk@okayama-u.ac.jp., Yanai K; Department of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama, Japan. ohtsuk@okayama-u.ac.jp., Shigeto H; Health and Medical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), 2217-14 Hayashi-cho, Takamatsu, Kagawa 761-0395, Japan., Yamamura S; Health and Medical Research Institute, National Institute of Advanced Industrial Science and Technology (AIST), 2217-14 Hayashi-cho, Takamatsu, Kagawa 761-0395, Japan., Watanabe K; Department of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama, Japan. ohtsuk@okayama-u.ac.jp., Ohtsuki T; Department of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama, Japan. ohtsuk@okayama-u.ac.jp.

Publikováno v: The Analyst [Analyst] 2023 May 30; Vol. 148 (11), pp. 2626-2632. Date of Electronic Publication: 2023 May 30.

Reflection of the Ictal Electrocorticographic Discharges Confined to the Medial Temporal Lobe to the Scalp-Recorded Electroencephalogram.

Autor: Mukae N; Department of Neurosurgery,Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Shimogawa T; Department of Neurosurgery,Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan., Uehara T; Department of Neurology, International University of Health and Welfare Narita Hospital, Narita, Japan., Shigeto H; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yoshimoto K; Department of Neurosurgery,Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Morioka T; Department of Neurosurgery, 91356Harasanshin Hospital, Fukuoka, Japan.

Publikováno v: Clinical EEG and neuroscience [Clin EEG Neurosci] 2023 Mar; Vol. 54 (2), pp. 173-178. Date of Electronic Publication: 2021 Nov 26.

The effect of interictal epileptic discharges and following spindles on motor sequence learning in epilepsy patients.

Autor: Okadome T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yamaguchi T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Mukaino T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan., Ogata K; Department of Pharmacy, School of Pharmaceutical Sciences at Fukuoka, International University of Health and Welfare, Okawa, Japan., Shigeto H; Division of Medical Technology, Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Isobe N; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Uehara T; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurology, School of Medicine, International University of Health and Welfare Narita Hospital, Narita, Japan.

Publikováno v: Frontiers in neurology [Front Neurol] 2022 Nov 10; Vol. 13, pp. 979333. Date of Electronic Publication: 2022 Nov 10 (Print Publication: 2022).