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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10715-w
By:
- Suzuki, Toshimitsu;
- Tatsukawa, Tetsuya;
- Sudo, Genki;
- Delandre, Caroline;
- Pai, Yun Jin;
- Miyamoto, Hiroyuki;
- Raveau, Matthieu;
- Shimohata, Atsushi;
- Ohmori, Iori;
- Hamano, Shin-ichiro;
- Haginoya, Kazuhiro;
- Uematsu, Mitsugu;
- Takahashi, Yukitoshi;
- Morimoto, Masafumi;
- Fujimoto, Shinji;
- Osaka, Hitoshi;
- Oguni, Hirokazu;
- Osawa, Makiko;
- Ishii, Atsushi;
- Hirose, Shinichi
Publication type:
Article
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.
Published in:
Molecular Syndromology, 2023, v. 14, n. 6, p. 461, doi. 10.1159/000530625
By:
- Sugeno, Naoto;
- Hasegawa, Takafumi;
- Haginoya, Kazuhiro;
- Kubota, Takafumi;
- Ikeda, Kensuke;
- Nakamura, Takaaki;
- Ishiyama, Shun;
- Sato, Kazuki;
- Yoshida, Shun;
- Koshimizu, Eriko;
- Uematsu, Mitsugu;
- Miyatake, Satoko;
- Matsumoto, Naomichi;
- Aoki, Masashi
Publication type:
Article
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report.
Published in:
2014
By:
- Abe, Yu;
- Kobayashi, Satoru;
- Wakusawa, Keisuke;
- Tanaka, Soichiro;
- Inui, Takehiko;
- Yamamoto, Toshiyuki;
- Kunishima, Shinji;
- Haginoya, Kazuhiro
Publication type:
Case Study
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
By:
- Ohba, Chihiro;
- Shiina, Masaaki;
- Tohyama, Jun;
- Haginoya, Kazuhiro;
- Lerman‐Sagie, Tally;
- Okamoto, Nobuhiko;
- Blumkin, Lubov;
- Lev, Dorit;
- Mukaida, Souichi;
- Nozaki, Fumihito;
- Uematsu, Mitsugu;
- Onuma, Akira;
- Kodera, Hirofumi;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Miyake, Noriko;
- Tanaka, Fumiaki;
- Kato, Mitsuhiro;
- Ogata, Kazuhiro;
- Saitsu, Hirotomo
Publication type:
Article
Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1886, doi. 10.1111/j.1528-1167.2010.02600.x
By:
- Takayanagi, Masaru;
- Haginoya, Kazuhiro;
- Umehara, Naoki;
- Kitamura, Taro;
- Numata, Yurika;
- Wakusawa, Keisuke;
- Hino-Fukuyo, Naomi;
- Mazaki, Emi;
- Yamakawa, Kazuhiro;
- Ohura, Toshihiro;
- Ohtake, Masatoshi
Publication type:
Article
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: A functional neuroimaging study.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 4, p. 699, doi. 10.1111/j.1528-1167.2009.02399.x
By:
- Hirose, Mieko;
- Haginoya, Kazuhiro;
- Yokoyama, Hiroyuki;
- Tanaka, Soichiro;
- Uematsu, Mitsugu;
- Kaneta, Tomohiro;
- Takayanagi, Masaru;
- Kon, Kimiya;
- Yoshihara, Yasushi;
- Iinuma, Kazuie;
- Tsuchiya, Shigeru
Publication type:
Article
Dynamic Cortical Activity during Spasms in Three Patients with West Syndrome: A Multichannel Near-infrared Spectroscopic Topography Study.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 10, p. 1248, doi. 10.1111/j.0013-9580.2004.t01-1-04004.x
By:
- Munakata, Mitsutoshi;
- Haginoya, Kazuhiro;
- Ishitobi, Mamiko;
- Sakamoto, Osamu;
- Sato, Ikuko;
- Kitamura, Taro;
- Hirose, Mieko;
- Yokoyama, Hiroyuki;
- Iinuma, Kazuie
Publication type:
Article
Metabolic Properties of Band Heterotopia Differ from Those of Other Cortical Dysplasias: A Proton Magnetic Resonance Spectroscopy Study.
Published in:
Epilepsia (Series 4), 2003, v. 44, n. 3, p. 366, doi. 10.1046/j.1528-1157.2003.33901.x
By:
- Munakata, Mitsutoshi;
- Haginoya, Kazuhiro;
- Soga, Takashi;
- Yokoyama, Hiroyuki;
- Noguchi, Rie;
- Nagasaka, Tatsuo;
- Murata, Takaki;
- Higano, Shuichi;
- Takahashi, Shoki;
- Iinuma, Kazuie
Publication type:
Article
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Published in:
2009
By:
- Hayashi, Yukiko K.;
- Matsuda, Chie;
- Ogawa, Megumu;
- Goto, Kanako;
- Tominaga, Kayo;
- Mitsuhashi, Satomi;
- Young-Eun Park;
- Nonaka, Ikuya;
- Hino-Fukuyo, Naomi;
- Haginoya, Kazuhiro;
- Sugano, Hisashi;
- Nishino, Ichizo;
- Park, Young-Eun
Publication type:
journal article
Patchy white matter hyperintensity in ring chromosome 18 syndrome.
Published in:
Pediatrics International, 2016, v. 58, n. 9, p. 919, doi. 10.1111/ped.13043
By:
- Anzai, Mai;
- Arai‐Ichinoi, Natsuko;
- Takezawa, Yusuke;
- Endo, Wakaba;
- Inui, Takehiko;
- Sato, Ryo;
- Kikuchi, Atsuo;
- Uematsu, Mitsugu;
- Kure, Shigeo;
- Haginoya, Kazuhiro
Publication type:
Article
High-dose phenobarbital with intermittent short-acting barbiturates for acute encephalitis with refractory, repetitive partial seizures.
Published in:
Pediatrics International, 2016, v. 58, n. 8, p. 750, doi. 10.1111/ped.12934
By:
- Uchida, Takashi;
- Takayanagi, Masaru;
- Kitamura, Taro;
- Nishio, Toshiyuki;
- Numata, Yurika;
- Endo, Wakaba;
- Haginoya, Kazuhiro;
- Ohura, Toshihiro
Publication type:
Article
First Japanese case of Zellweger syndrome with a mutation in PEX14.
Published in:
Pediatrics International, 2015, v. 57, n. 6, p. 1189, doi. 10.1111/ped.12713
By:
- Komatsuzaki, Shoko;
- Ogawa, Eishin;
- Shimozawa, Nobuyuki;
- Sakamoto, Osamu;
- Haginoya, Kazuhiro;
- Uematsu, Mitsugu;
- Hasegawa, Yuki;
- Matsubara, Yoichi;
- Ohura, Toshihiro
Publication type:
Article
Ketotifen overdose in infancy associated with development of epilepsy and mild mental retardation.
Published in:
Pediatrics International, 2012, v. 54, n. 6, p. 963, doi. 10.1111/j.1442-200X.2012.03718.x
By:
- Yokoyama, Hiroyuki;
- Hirose, Mieko;
- Uematsu, Mitsugu;
- Haginoya, Kazuhiro;
- Iinuma, Kazuie;
- Kimura, Shigeru
Publication type:
Article
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.
Published in:
Pediatrics International, 2011, v. 53, n. 6, p. 921, doi. 10.1111/j.1442-200X.2011.03412.x
By:
- Sakamoto, Osamu;
- Ohura, Toshihiro;
- Murayama, Kei;
- Ohtake, Akira;
- Harashima, Hiroko;
- Abukawa, Daiki;
- Takeyama, Junji;
- Haginoya, Kazuhiro;
- Miyabayashi, Shigeaki;
- Kure, Shigeo
Publication type:
Article
Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases.
Published in:
Pediatrics International, 1994, v. 36, n. 1, p. 30, doi. 10.1111/j.1442-200X.1994.tb03125.x
By:
- IMAIZUMI, MASUE;
- GUSHI, KAZUO;
- KUROBANE, IKUO;
- INOUE, SHIGEO;
- SUZUKI, JUN;
- KOIZUMI, YOSHITSUGU;
- SUZUKI, HOSHIROU;
- SATO, ATSUSHI;
- GOTOH, YOU-ICHI;
- HAGINOYA, KAZUHIRO;
- KIKUCHI, MASAHIRO;
- AIKAWA, JUN-ICHIROU;
- NARISAWA, KUNIAKI;
- OHUNUMA, AKIRA;
- OHMURA, KIYOSHI;
- SHINTANI, HARUO;
- TANAKA, AKEMI;
- TADA, KEIYA
Publication type:
Article
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 234, doi. 10.1002/ajmg.a.35678
By:
- Kakisaka, Yosuke;
- Haginoya, Kazuhiro;
- Takahashi, Yuko;
- Ochiai, Tatsuhiro;
- Fujiwara, Ikuma;
- Kikuchi, Atsuo;
- Wakusawa, Keisuke;
- Kobayashi, Satoru;
- Kikuchi, Hirosato;
- Ichihara, Yasuko;
- Takahashi, Shinichiro;
- Nishino, Ichizo
Publication type:
Article
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 674, doi. 10.1002/ajmg.a.34258
By:
- Tsuburaya, Rie;
- Uematsu, Mitsugu;
- Kikuchi, Atsuo;
- Hino-Fukuyo, Naomi;
- Kunishima, Shinji;
- Kato, Mitsuhiro;
- Haginoya, Kazuhiro;
- Tsuchiya, Shigeru
Publication type:
Article
Platelet-derived growth factor and its receptors are related to the progression of human muscular dystrophy: an immunohistochemical study.
Published in:
Journal of Pathology, 2003, v. 201, n. 1, p. 149, doi. 10.1002/path.1414
By:
- Yajuan Zhao;
- Kazuhiro Haginoya;
- Guilian Sun;
- Hongmei Dai;
- Akira Onuma;
- Kazuie Iinuma
Publication type:
Article
Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 12, p. 1221, doi. 10.1111/dmcn.12553
By:
- Abe, Yu;
- Kikuchi, Atsuo;
- Kobayashi, Satoru;
- Wakusawa, Keisuke;
- Tanaka, Soichiro;
- Inui, Takehiko;
- Kunishima, Shinji;
- Kure, Shigeo;
- Haginoya, Kazuhiro
Publication type:
Article
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 167, doi. 10.1111/dmcn.12013
By:
- NUMATA, YURIKA;
- ONUMA, AKIRA;
- KOBAYASHI, YASUKO;
- SATO‐SHIRAI, IKUKO;
- TANAKA, SOICHIRO;
- KOBAYASHI, SATORU;
- WAKUSAWA, KEISUKE;
- INUI, TAKEHIKO;
- KURE, SHIGEO;
- HAGINOYA, KAZUHIRO
Publication type:
Article
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 89, doi. 10.1007/s00439-015-1617-7
By:
- Arai-Ichinoi, Natsuko;
- Uematsu, Mitsugu;
- Sato, Ryo;
- Suzuki, Tasuku;
- Kudo, Hiroki;
- Kikuchi, Atsuo;
- Hino-Fukuyo, Naomi;
- Matsumoto, Mitsuyo;
- Igarashi, Kazuhiko;
- Haginoya, Kazuhiro;
- Kure, Shigeo
Publication type:
Article
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 649, doi. 10.1007/s00439-015-1553-6
By:
- Hino-Fukuyo, Naomi;
- Kikuchi, Atsuo;
- Arai-Ichinoi, Natsuko;
- Niihori, Tetsuya;
- Sato, Ryo;
- Suzuki, Tasuku;
- Kudo, Hiroki;
- Sato, Yuko;
- Nakayama, Tojo;
- Kakisaka, Yosuke;
- Kubota, Yuki;
- Kobayashi, Tomoko;
- Funayama, Ryo;
- Nakayama, Keiko;
- Uematsu, Mitsugu;
- Aoki, Yoko;
- Haginoya, Kazuhiro;
- Kure, Shigeo
Publication type:
Article
A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.
Published in:
Human Genetics, 2006, v. 120, n. 5, p. 737, doi. 10.1007/s00439-006-0241-y
By:
- Van Khanh Tran;
- Takeshima, Yasuhiro;
- Zhujun Zhang;
- Habara, Yasuaki;
- Haginoya, Kazuhiro;
- Nishiyama, Atsushi;
- Yagi, Mariko;
- Matsuo, Masafumi
Publication type:
Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
By:
- Takata, Atsushi;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo;
- Mizuguchi, Takeshi;
- Mitsuhashi, Satomi;
- Takahashi, Yukitoshi;
- Okamoto, Nobuhiko;
- Osaka, Hitoshi;
- Nakamura, Kazuyuki;
- Tohyama, Jun;
- Haginoya, Kazuhiro;
- Takeshita, Saoko;
- Kuki, Ichiro;
- Okanishi, Tohru;
- Goto, Tomohide;
- Sasaki, Masayuki;
- Sakai, Yasunari;
- Miyake, Noriko;
- Miyatake, Satoko;
- Tsuchida, Naomi
Publication type:
Article
Ictal cerebral haemodynamics of childhood epilepsy measured with near‐infrared spectrophotometry.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 9, p. 1960, doi. 10.1093/brain/awf213
By:
- Haginoya, Kazuhiro;
- Munakata, Mitsutoshi;
- Kato, Rie;
- Yokoyama, Hiroyuki;
- Ishizuka, Masaharu;
- Iinuma, Kazuie
Publication type:
Article
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 7, p. e71, doi. 10.1111/epi.16582
By:
- 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
Publication type:
Article
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 11, p. 1858, doi. 10.1111/epi.13560
By:
- Zerem, Ayelet;
- Haginoya, Kazuhiro;
- Lev, Dorit;
- Blumkin, Lubov;
- Kivity, Sara;
- Linder, Ilan;
- Shoubridge, Cheryl;
- Palmer, Elizabeth Emma;
- Field, Michael;
- Boyle, Jackie;
- Chitayat, David;
- Gaillard, William D.;
- Kossoff, Eric H.;
- Willems, Marjolaine;
- Geneviève, David;
- Tran-Mau-Them, Frederic;
- Epstein, Orna;
- Heyman, Eli;
- Dugan, Sarah;
- Masurel-Paulet, Alice
Publication type:
Article
De novo GABRA1 mutations in Ohtahara and West syndromes.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 4, p. 566, doi. 10.1111/epi.13344
By:
- Kodera, Hirofumi;
- Ohba, Chihiro;
- Kato, Mitsuhiro;
- Maeda, Toshiyuki;
- Araki, Kaoru;
- Tajima, Daisuke;
- Matsuo, Muneaki;
- Hino‐Fukuyo, Naomi;
- Kohashi, Kosuke;
- Ishiyama, Akihiko;
- Takeshita, Saoko;
- Motoi, Hirotaka;
- Kitamura, Taro;
- Kikuchi, Atsuo;
- Tsurusaki, Yoshinori;
- Nakashima, Mitsuko;
- Miyake, Noriko;
- Sasaki, Masayuki;
- Kure, Shigeo;
- Haginoya, Kazuhiro
Publication type:
Article
Reply to: A genomic cause of cerebral palsy should not change the clinical classification.
Published in:
2018
By:
- Takezawa, Yusuke;
- Kikuchi, Atsuo;
- Haginoya, Kazuhiro;
- Kure, Shigeo
Publication type:
Letter to the Editor
Genomic analysis identifies masqueraders of full‐term cerebral palsy.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 5, p. 538, doi. 10.1002/acn3.551
By:
- Takezawa, Yusuke;
- Kikuchi, Atsuo;
- Haginoya, Kazuhiro;
- Niihori, Tetsuya;
- Numata‐Uematsu, Yurika;
- Inui, Takehiko;
- Yamamura‐Suzuki, Saeko;
- Miyabayashi, Takuya;
- Anzai, Mai;
- Suzuki‐Muromoto, Sato;
- Okubo, Yukimune;
- Endo, Wakaba;
- Togashi, Noriko;
- Kobayashi, Yasuko;
- Onuma, Akira;
- Funayama, Ryo;
- Shirota, Matsuyuki;
- Nakayama, Keiko;
- Aoki, Yoko;
- Kure, Shigeo
Publication type:
Article
De novo pathogenic DHX30 variants in two cases.
Published in:
Clinical Genetics, 2021, v. 100, n. 3, p. 350, doi. 10.1111/cge.14013
By:
- Miyake, Noriko;
- Kim, Chong Ae;
- Haginoya, Kazuhiro;
- Castro, Matheus Augusto Araujo;
- Honjo, Rachel Sayruri;
- Matsumoto, Naomichi
Publication type:
Article
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Published in:
2019
By:
- Iwasawa, Shinya;
- Kikuchi, Atsuo;
- Kure, Shigeo;
- Niihori, Tetsuya;
- Aoki, Yoko;
- Shirota, Matsuyuki;
- Funayama, Ryo;
- Nakayama, Keiko;
- Kawame, Hiroshi;
- Shoji, Wataru;
- Yanagi, Kumiko;
- Kaname, Tadashi;
- Matsubara, Yoichi;
- Kobayashi, Yasuko;
- Haginoya, Kazuhiro;
- Matsumoto, Hiroshi;
- Nonoyama, Shigeaki;
- Kurosawa, Kenji;
- Ochiai, Masayuki;
- Sakai, Yasunari
Publication type:
journal article
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly.
Published in:
Annals of Neurology, 2013, v. 73, n. 1, p. 48, doi. 10.1002/ana.23736
By:
- Yoneda, Yuriko;
- Haginoya, Kazuhiro;
- Kato, Mitsuhiro;
- Osaka, Hitoshi;
- Yokochi, KENji;
- Arai, Hiroshi;
- Kakita, Akiyoshi;
- Yamamoto, Takamichi;
- Otsuki, Yoshiro;
- Shimizu, Shin‐ichi;
- Wada, Takahito;
- Koyama, Norihisa;
- Mino, Yoichi;
- Kondo, Noriko;
- Takahashi, Satoru;
- Hirabayashi, Shinichi;
- Takanashi, Jun‐ichi;
- Okumura, Akihisa;
- Kumagai, Toshiyuki;
- Hirai, Satori
Publication type:
Article
Electroencephalogram and Clinical Neurophysiology: Event Related Potentials Evoked by Pure Tone and Linguistic Stimulation in Epileptic Children.
Published in:
Psychiatry & Clinical Neurosciences, 1992, v. 46, n. 2, p. 484, doi. 10.1111/j.1440-1819.1992.tb00909.x
By:
- Kon, Kimiya;
- Nagai, Mayumi;
- Yoshihara, Yasushi;
- Takahashi, Ritsuko;
- Yagi, Tsuneo;
- Ike, Koichiro;
- Haginoya, Kazuhiro;
- Iinuma, Kazuie
Publication type:
Article
Concordance and Discordance between PET Images and Foci of Scalp EEG.
Published in:
Psychiatry & Clinical Neurosciences, 1989, v. 43, n. 3, p. 379, doi. 10.1111/j.1440-1819.1989.tb02930.x
By:
- Iinuma, Kazuie;
- Haginoya, Kazuhiro;
- Yanai, Kazuhiko;
- Hatazawa, Jun;
- Ito, Masatoshi
Publication type:
Article
Efficacy of Sumatriptan in Two Pediatric Cases With Abdominal Pain-Related Functional Gastrointestinal Disorders: Does the Mechanism Overlap That of Migraine?
Published in:
2010
By:
- Kakisaka, Yosuke;
- Wakusawa, Keisuke;
- Haginoya, Kazuhiro;
- Saito, Akiko;
- Uematsu, Mitsugu;
- Yokoyama, Hiroyuki;
- Sato, Tetsuo;
- Tsuchiya, Shigeru
Publication type:
Case Study
Successful Treatment With Sumatriptan in a Case With Cyclic Vomiting Syndrome Combined With 18q -- Syndrome.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 12, p. 1561, doi. 10.1177/0883073809334384
By:
- Kakisaka, Yosuke;
- Wakusawa, Keisuke;
- Sato, Ikuko;
- Haginoya, Kazuhiro;
- Uematsu, Mitsugu;
- Hirose, Mieko;
- Munakata, Mitsutoshi;
- Sato, Tetsuo;
- Tsuchiya1, Shigeru
Publication type:
Article
Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 7, p. 868, doi. 10.1177/0883073808330186
By:
- Hino-Fukuyo, Naomi;
- Haginoya, Kazuhiro;
- Uematsu, Mitsugu;
- Nakayama, Tojo;
- Kikuchi, Atsuo;
- Kure, Shigeo;
- Kamada, Fumiaki;
- Abe, Yu;
- Arai, Natsuko;
- Togashi, Noriko;
- Onuma, Akira;
- Tsuchiya, Shigeru
Publication type:
Article
Ictal Vomiting as an Initial Symptom of Severe Myoclonic Epilepsy in Infancy: A Case Report.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 2, p. 228, doi. 10.1177/0883073808327839
By:
- Naomi Hino-Fukuyo;
- Haginoya, Kazuhiro;
- Togashi, Noriko;
- Uematsu, Mitsugu;
- Kitamura, Taro;
- Kakisaka, Yosuke;
- Ishitobi, Mamiko;
- Wakusawa, Keisuke;
- Iinuma, Kazuie;
- Oguni, Hirokazu;
- Yamakawa, Kazuhiro;
- Tsuchiya, Shigeru
Publication type:
Article
Reduced Regional Cerebral Metabolic Rate for Glucose at the Terminal Stage in a Case of Late Infantile Neuronal Ceroid Lipofuscinosis.
Published in:
Journal of Child Neurology, 1990, v. 5, n. 2, p. 98, doi. 10.1177/088307389000500205
By:
- Fueki, Noboru;
- Iinuma, Kazuie;
- Kojima, Akira;
- Yanai, Kazuhiko;
- Haginoya, Kazuhiro;
- Tada, Keiya;
- Ido, Tatsuo;
- Ito, Masatoshi
Publication type:
Article
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Published in:
Tohoku Journal of Experimental Medicine, 2024, v. 262, n. 4, p. 239, doi. 10.1620/tjem.2024.J004
By:
- Toshiki Inotani;
- Akira Horaguchi;
- Yuko Morishita;
- Ayuko Yoshida;
- Misaki Otomo;
- Makoto Suzuki;
- Takehiko Inui;
- Yukimune Okubo;
- Shigemasa Komatsu;
- Chika Mizuno;
- Yuko Takahashi;
- Tatsuhiro Ochiai;
- Takeshi Kinjo;
- Takashi Asato;
- Jun Takayama;
- Gen Tamiya;
- Naoya Saijo;
- Atsuo Kikuchi;
- Kazuhiro Haginoya
Publication type:
Article
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
Published in:
2024
By:
- Moriei Shibuya;
- Minobu Shichiji;
- Miki Ikeda;
- Kaori Kodama;
- Takuya Miyabayashi;
- Ryo Sato;
- Yukimune Okubo;
- Wakaba Endo;
- Takehiko Inui;
- Noriko Togashi;
- Mika Nagao;
- Kaname Sato;
- Takatoshi Sato;
- Masato Kanzaki;
- Osamu Segawa;
- Kenta Masui;
- Keiko Ishigaki;
- Kazuhiro Haginoya
Publication type:
Case Study
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.
Published in:
2022
By:
- Moriei Shibuya;
- Noriko Togashi;
- Takehiko Inui;
- Yukimune Okubo;
- Wakaba Endo;
- Takuya Miyabayashi;
- Ryo Sato;
- Yusuke Takezawa;
- Kaori Kodama;
- Miki Ikeda;
- Aritomo Kawashima;
- Kazuhiro Haginoya
Publication type:
Case Study
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Published in:
Tohoku Journal of Experimental Medicine, 2022, v. 256, n. 4, p. 321, doi. 10.1620/tjem.2022.J010
By:
- Yuta Narishige;
- Hisao Yaoita;
- Moriei Shibuya;
- Miki Ikeda;
- Kaori Kodama;
- Aritomo Kawashima;
- Yukimune Okubo;
- Wakaba Endo;
- Takehiko Inui;
- Noriko Togashi;
- Soichiro Tanaka;
- Yasuko Kobayashi;
- Akira Onuma;
- Jun Takayama;
- Gen Tamiya;
- Atsuo Kikuchi;
- Shigeo Kure;
- Kazuhiro Haginoya
Publication type:
Article
Reduction in Glutamine/Glutamate Levels in the Cerebral Cortex after Adrenocorticotropic Hormone Therapy in Patients with West Syndrome.
Published in:
Tohoku Journal of Experimental Medicine, 2014, v. 232, n. 4, p. 277, doi. 10.1620/tjem.232.277
By:
- Mitsutoshi Munakata;
- Noriko Togashi;
- Osamu Sakamoto;
- Kazuhiro Haginoya;
- Yasuko Kobayashi;
- Akira Onuma;
- Kazuie Iinuma;
- Shigeo Kure
Publication type:
Article
Abdominal Migraine Associated with Ecchymosis of the Legs and Buttocks: Does the Symptom Imply an Unknown Mechanism of Migraine?
Published in:
Tohoku Journal of Experimental Medicine, 2010, v. 221, n. 1, p. 49, doi. 10.1620/tjem.221.49
By:
- Kakisaka, Yosuke;
- Wakusawa, Keisuke;
- Haginoya, Kazuhiro;
- Uematsu, Mitsugu;
- Tsuchiya, Shigeru
Publication type:
Article
The Nutrient Formula Containing Eicosapentaenoic Acid and Docosahexaenoic Acid Benefits the Fatty Acid Status of Patients Receiving Long-Term Enteral Nutrition.
Published in:
Tohoku Journal of Experimental Medicine, 2009, v. 217, n. 1, p. 23, doi. 10.1620/tjem.217.23
By:
- Munakata, Mitsutoshi;
- Nishikawa, Masazumi;
- Togashi, Noriko;
- Nio, Eiko;
- Kobayashi, Yasuko;
- Omura, Kiyoshi;
- Haginoya, Kazuhiro;
- Tanaka, Soichiro;
- Abe, Takuya;
- Hishinuma, Takanori;
- Chida, Nobukazu;
- Tsuchiya, Shigeru;
- Onuma, Akira
Publication type:
Article
β-phenylethylamine Inhibits K<sup>+</sup> Currents in Neocortical Neurons of the Rat: A Possible Mechanism of β-phenylethylamine-induced Seizures.
Published in:
Tohoku Journal of Experimental Medicine, 2008, v. 215, n. 4, p. 333, doi. 10.1620/tjem.215.333
By:
- Kitamura, Taro;
- Munakata, Mitsutoshi;
- Haginoya, Kazuhiro;
- Tsuchiya, Shigeru;
- Iinuma, Kazue
Publication type:
Article
Olfactory Stimulation Using Black Pepper Oil Facilitates Oral Feeding in Pediatric Patients Receiving Long-Term Enteral Nutrition.
Published in:
Tohoku Journal of Experimental Medicine, 2008, v. 214, n. 4, p. 327, doi. 10.1620/tjem.214.327
By:
- Munakata, Mitsutoshi;
- Kobayashi, Kaori;
- Niisato-Nezu, Junko;
- Tanaka, Souichiro;
- Kakisaka, Yosuke;
- Ebihara, Takae;
- Ebihara, Satoru;
- Haginoya, Kazuhiro;
- Tsuchiya, Shigeru;
- Onuma, Akira
Publication type:
Article
The Cerebrospinal Fluid Level of 5-Methylterahydrofolate in a Japanese Boy with Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.
Published in:
2007
By:
- Wakusawa, Keisuke;
- Uematsu, Mitsugu;
- Tsuchiya, Shigeru;
- Haginoya, Kazuhiro;
- Blau, Nenad
Publication type:
Letter

Found: 55