Works by Yamagata, Takanori

Results: 95

Double-balloon Enteroscopy for Pediatric Patients: Evaluation of Safety and Efficacy in 257 Cases.

Published in:

2016

By:

Koji Yokoyama;
Tomonori Yano;
Hideki Kumagai;
Koichi Mizuta;
Shigeru Ono;
Tomoyuki Imagawa;
Hironori Yamamoto;
Takanori Yamagata;
Yokoyama, Koji;
Yano, Tomonori;
Kumagai, Hideki;
Mizuta, Koichi;
Ono, Shigeru;
Imagawa, Tomoyuki;
Yamamoto, Hironori;
Yamagata, Takanori

Publication type:

journal article

Paradoxical brain embolism followed by percutaneous atrial septal closure: Stroke in a patient's thirties highlighting some issues surrounding brain stroke in an emergency setting.

Published in:

2017

By:

Daisuke Matsubara;
Koichi Kataoka;
Teppei Matsubara;
Takaomi Minami;
Takanori Yamagata

Publication type:

Case Study

Efficacy and safety associated with the infusion speed of intravenous immunoglobulin for the treatment of Kawasaki disease: a randomized controlled trial.

Published in:

Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00601-6

By:

Fukui, Saori;
Seki, Mitsuru;
Minami, Takaomi;
Kotani, Kazuhiko;
Oka, Kensuke;
Yokomizo, Akiko;
Matsubara, Daisuke;
Sato, Tomoyuki;
Nozaki, Yasuyuki;
Saito, Mari;
Kikuchi, Yutaka;
Miyamoto, Kenji;
Monden, Yukifumi;
Yamagata, Takanori

Publication type:

Article

Acute encephalopathy with callosal, subcortical and thalamic lesions.

Published in:

2015

By:

Yuko Nakano;
Yukifumi Monden;
Masashi Mizuguchi;
Masako Nagashima;
Yasunori Koike;
Yuji Gunji;
Naoto Takahashi;
Hideo Sugie;
Momoi, Mariko Y.;
Takanori Yamagata

Publication type:

Case Study

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Published in:

2019

By:

Negishi, Yutaka;
Ieda, Daisuke;
Hori, Ikumi;
Nozaki, Yasuyuki;
Yamagata, Takanori;
Komaki, Hirofumi;
Tohyama, Jun;
Nagasaki, Keisuke;
Tada, Hiroko;
Saitoh, Shinji

Publication type:

journal article

Morphological characterization of Class III phosphoinositide 3-kinase during mouse brain development.

Published in:

Medical Molecular Morphology, 2016, v. 49, n. 1, p. 28, doi. 10.1007/s00795-015-0116-1

By:

Inaguma, Yutaka;
Ito, Hidenori;
Iwamoto, Ikuko;
Matsumoto, Ayumi;
Yamagata, Takanori;
Tabata, Hidenori;
Nagata, Koh-ichi

Publication type:

Article

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1282, doi. 10.1111/epi.12200

By:

Kato, Mitsuhiro;
Yamagata, Takanori;
Kubota, Masaya;
Arai, Hiroshi;
Yamashita, Sumimasa;
Nakagawa, Taku;
FujII, Takanari;
Sugai, Kenji;
Imai, Kaoru;
Uster, Tami;
Chitayat, David;
Weiss, Shelly;
Kashii, Hirofumi;
Kusano, Ryosuke;
Matsumoto, Ayumi;
Nakamura, Kazuyuki;
Oyazato, Yoshinobu;
Maeno, Mari;
Nishiyama, Kiyomi;
Kodera, Hirofumi

Publication type:

Article

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.

Published in:

Neurological Sciences, 2012, v. 33, n. 6, p. 1389, doi. 10.1007/s10072-011-0902-z

By:

Namekawa, Michito;
Takiyama, Yoshihisa;
Honda, Junko;
Sakoe, Kumi;
Naoi, Tametou;
Shimazaki, Haruo;
Yamagata, Takanori;
Momoi, Mariko;
Nakano, Imaharu

Publication type:

Article

Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.

Published in:

Neuropathology, 2017, v. 37, n. 5, p. 426, doi. 10.1111/neup.12380

By:

Kodachi, Tsuyoshi;
Matsumoto, Shizuko;
Mizuguchi, Masashi;
Osaka, Hitoshi;
Kanai, Nobuyuki;
Nanba, Eiji;
Ohno, Kousaku;
Yamagata, Takanori

Publication type:

Article

Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case.

Published in:

Neuropathology, 2013, v. 33, n. 3, p. 292, doi. 10.1111/j.1440-1789.2012.01348.x

By:

Iwasa, Mitsuaki;
Yamagata, Takanori;
Mizuguchi, Masashi;
Itoh, Masayuki;
Matsumoto, Ayumi;
Hironaka, Mitsugu;
Honda, Ayako;
Momoi, Mariko Y.;
Shimozawa, Nobuyuki

Publication type:

Article

An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-83445-w

By:

Noda, Mariko;
Matsumoto, Ayumi;
Ito, Hidenori;
Kagami, Masayo;
Tajima, Toshihiro;
Matsumura, Takayoshi;
Yamagata, Takanori;
Nagata, Koh-ichi

Publication type:

Article

Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome.

Published in:

Scientific Reports, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41598-024-62445-w

By:

Kobayashi, Mizuki;
Miyauchi, Akihiko;
Jimbo, Eriko F.;
Oishi, Natsumi;
Aoki, Shiho;
Watanabe, Miyuki;
Yoshikawa, Yasushi;
Akiyama, Yutaka;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 11, p. 755, doi. 10.1038/jhg.2013.88

By:

Matsumoto, Ayumi;
Kuwajima, Mari;
Miyake, Kunio;
Kojima, Karin;
Nakashima, Naomi;
Jimbo, Eriko F;
Kubota, Takeo;
Momoi, Mariko Y;
Yamagata, Takanori

Publication type:

Article

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219

By:

Tsurusaki, Yoshinori;
Okamoto, Nobuhiko;
Ohashi, Hirofumi;
Kosho, Tomoki;
Imai, Yoko;
Hibi-Ko, Yumiko;
Kaname, Tadashi;
Naritomi, Kenji;
Kawame, Hiroshi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Homma, Tomomi;
Kato, Mitsuhiro;
Hiraki, Yoko;
Yamagata, Takanori;
Yano, Shoji;
Mizuno, Seiji;
Sakazume, Satoru;
Ishii, Takuma;
Nagai, Toshiro

Publication type:

Article

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 191, doi. 10.1038/79911

By:

Matsuura, Tohru;
Yamagata, Takanori;
Burgess, Daniel L.;
Rasmussen, Astrid;
Grewal, Raji P.;
Watase, Kei;
Khajavi, Mehrdad;
McCall, Alanna E.;
Davis, Caleb F.;
Zu, Lan;
Achari, Madhureeta;
Pulst, Stefan M.;
Alonso, Elisa;
Noebels, Jeffrey L.;
Nelson, David L.;
Zoghbi, Huda Y.;
Ashizawa, Tetsuo

Publication type:

Article

Ehlers–Danlos type IV in pregnancy with a history of myocardial infarction.

Published in:

Journal of Obstetrics & Gynaecology Research, 2009, v. 35, n. 4, p. 797, doi. 10.1111/j.1447-0756.2009.01015.x

By:

Ohkuchi, Akihide;
Matsubara, Shigeki;
Takahashi, Kayoko;
Inoue, Soichiro;
Saito, Tsutomu;
Mitsuhashi, Takeshi;
Yamagata, Takanori;
Takahashi, Naoto;
Watanabe, Atsushi;
Shimada, Takashi;
Suzuki, Mitsuaki

Publication type:

Article

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 5, p. 361, doi. 10.1002/acn3.59

By:

Uehara, Natsumi;
Mori, Masato;
Tokuzawa, Yoshimi;
Mizuno, Yosuke;
Tamaru, Shunsuke;
Kohda, Masakazu;
Moriyama, Yohsuke;
Nakachi, Yutaka;
Matoba, Nana;
Sakai, Tetsuro;
Yamazaki, Taro;
Harashima, Hiroko;
Murayama, Kei;
Hattori, Keisuke;
Hayashi, Jun‐Ichi;
Yamagata, Takanori;
Fujita, Yasunori;
Ito, Masafumi;
Tanaka, Masashi;
Nibu, Ken‐ichi

Publication type:

Article

Elevated serum interleukin-7 level in idiopathic steroid-sensitive nephrotic syndrome.

Published in:

Pediatrics International, 2011, v. 53, n. 6, p. 906, doi. 10.1111/j.1442-200X.2011.03380.x

By:

Kanai, Takahiro;
Shiraishi, Hirohiko;
Yamagata, Takanori;
Ito, Takane;
Odaka, Jun;
Saito, Takashi;
Aoyagi, Jun;
Momoi, Mariko Y.

Publication type:

Article

Macrophage inflammatory protein-1β and interleukin-8 associated with idiopathic steroid-sensitive nephrotic syndrome.

Published in:

Pediatrics International, 2009, v. 51, n. 4, p. 443, doi. 10.1111/j.1442-200X.2008.02759.x

By:

Kanai, Takahiro;
Yamagata, Takanori;
Momoi, Mariko Y.

Publication type:

Article

Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 21, p. 3241, doi. 10.1093/hmg/ddl402

By:

Nishijima, Ichiko;
Yamagata, Takanori;
Spencer, Corinne M.;
Weeber, Edwin J.;
Alekseyenko, Olga;
Sweatt, J. David;
Momoi, Mariko Y.;
Ito, Masayuki;
Armstrong, Dawna L.;
Nelson, David L.;
Paylor, Richard;
Bradley, Allan

Publication type:

Article

Polyglutamine aggregates stimulate ER stress signals and caspase-12 activation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 13, p. 1505, doi. 10.1093/hmg/11.13.1505

By:

Kouroku, Yoriko;
Fujita, Eriko;
Jimbo, Atsushi;
Kikuchi, Tateki;
Yamagata, Takanori;
Momoi, Mariko Y.;
Kominami, Eiki;
Kuida, Keisuke;
Sakamaki, Kazuhiro;
Yonehara, Shin;
Momoi, Takashi

Publication type:

Article

Ultrasound microscopy through a fine fiber for renal tissues.

Published in:

2019

By:

Ito, Takane;
Kanai, Takahiro;
Hirota, Norio;
Itoh, Kouichi;
Yamagata, Takanori

Publication type:

Letter

Apolipoprotein AII levels are associated with the UP/UCr levels in idiopathic steroid-sensitive nephrotic syndrome.

Published in:

Clinical & Experimental Nephrology, 2015, v. 19, n. 1, p. 107, doi. 10.1007/s10157-014-0957-2

By:

Kanai, Takahiro;
Yamagata, Takanori;
Ito, Takane;
Odaka, Jun;
Saito, Takashi;
Aoyagi, Jun;
Momoi, Mariko

Publication type:

Article

Seasonal variation in first episode of childhood idiopathic steroid-sensitive nephrotic syndrome and adult minimal change nephrotic syndrome.

Published in:

Clinical & Experimental Nephrology, 2015, v. 19, n. 1, p. 146, doi. 10.1007/s10157-014-0966-1

By:

Odaka, Jun;
Kanai, Takahiro;
Uehara, Ritei;
Kusano, Eiji;
Yamagata, Takanori

Publication type:

Article

Th2 cells predominate in idiopathic steroid-sensitive nephrotic syndrome.

Published in:

Clinical & Experimental Nephrology, 2010, v. 14, n. 6, p. 578, doi. 10.1007/s10157-010-0330-z

By:

Kanai, Takahiro;
Shiraishi, Hirohiko;
Yamagata, Takanori;
Ito, Takane;
Odaka, Jun;
Saito, Takashi;
Aoyagi, Jun;
Momoi, Mariko

Publication type:

Article

Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.

Published in:

2016

By:

Kanai, Takahiro;
Ito, Takane;
Odaka, Jun;
Saito, Takashi;
Aoyagi, Jun;
Betsui, Hiroyuki;
Yamagata, Takanori

Publication type:

journal article

Developmental changes of the neural mechanisms underlying level 2 visual perspective‐taking: A functional near‐infrared spectroscopy study.

Published in:

Developmental Psychobiology, 2022, v. 64, n. 1, p. 1, doi. 10.1002/dev.22229

By:

Hirai, Masahiro;
Sakurada, Takeshi;
Ikeda, Takahiro;
Monden, Yukifumi;
Shimoizumi, Hideo;
Yamagata, Takanori

Publication type:

Article

Hypoactivation of the Right Prefrontal Cortex Underlying Motor‐Related Inhibitory Deficits in Children with Autism Spectrum Disorder: A Functional Near‐Infrared Spectroscopy Study.

Published in:

Japanese Psychological Research, 2018, v. 60, n. 4, p. 251, doi. 10.1111/jpr.12204

By:

Ikeda, Takahiro;
Tokuda, Tatsuya;
Monden, Yukifumi;
Hirai, Masahiro;
Mizushima, Sakae G.;
Nagashima, Masako;
Kyutoku, Yasushi;
Taniguchi, Takamichi;
Shimoizumi, Hideo;
Dan, Ippeita;
Yamagata, Takanori

Publication type:

Article

The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis.

Published in:

Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/S13229-015-0012-5

By:

Eriko Fujita-Jimbo;
Yuko Tanabe;
Zhiling Yu;
Karin Kojima;
Masato Mori;
Hong Li;
Sadahiko Iwamoto;
Takanori Yamagata;
Momoi, Mariko Y.;
Takashi Momoi

Publication type:

Article

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.

Published in:

Journal of Investigative Dermatology, 2005, v. 125, n. 1, p. 86, doi. 10.1111/j.0022-202X.2005.23745.x

By:

Fujimoto, Mitsuo;
Leech, Suzanne N.;
Theron, Therina;
Mori, Masato;
Fawcett, Heather;
Botta, Elena;
Nozaki, Yasuyuki;
Yamagata, Takanori;
Moriwaki, Shin-Ichi;
Stefanini, Miria;
Momoi, Mariko Y.;
Nakagawa, Hidemi;
Shuster, Sam;
Moss, Celia;
Lehmann, Alan R.

Publication type:

Article

Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.

Published in:

Journal of Neurochemistry, 2016, v. 139, n. 2, p. 245, doi. 10.1111/jnc.13832

By:

Inaguma, Yutaka;
Matsumoto, Ayumi;
Noda, Mariko;
Tabata, Hidenori;
Maeda, Akihiko;
Goto, Masahide;
Usui, Daisuke;
Jimbo, Eriko F.;
Kikkawa, Kiyoshi;
Ohtsuki, Mamitaro;
Momoi, Mariko Y.;
Osaka, Hitoshi;
Yamagata, Takanori;
Nagata, Koh‐ichi

Publication type:

Article

Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.

Published in:

Journal of Neurochemistry, 2015, v. 132, n. 1, p. 61, doi. 10.1111/jnc.12943

By:

Mizuno, Makoto;
Matsumoto, Ayumi;
Hamada, Nanako;
Ito, Hidenori;
Miyauchi, Akihiko;
Jimbo, Eriko F.;
Momoi, Mariko Y.;
Tabata, Hidenori;
Yamagata, Takanori;
Nagata, Koh‐ichi

Publication type:

Article

Early distribution of<sup>18</sup> F‐labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non‐human primates.

Published in:

Journal of Gene Medicine, 2023, v. 25, n. 1, p. 1, doi. 10.1002/jgm.3457

By:

Kumagai, Shinichi;
Nakajima, Takeshi;
Shimazaki, Kuniko;
Kakiuchi, Takeharu;
Harada, Norihiro;
Ohba, Hiroyuki;
Onuki, Yoshiyuki;
Takino, Naomi;
Ito, Mika;
Sato, Makoto;
Nakamura, Sachie;
Osaka, Hitoshi;
Yamagata, Takanori;
Kawai, Kensuke;
Muramatsu, Shin‐ichi

Publication type:

Article

Gene therapy for <italic>Glut1</italic>‐deficient mouse using an adeno‐associated virus vector with the human intrinsic GLUT1 promoter.

Published in:

Journal of Gene Medicine, 2018, v. 20, n. 4, p. 1, doi. 10.1002/jgm.3013

By:

Nakamura, Sachie;
Muramatsu, Shin‐ichi;
Takino, Naomi;
Ito, Mika;
Jimbo, Eriko F.;
Shimazaki, Kuniko;
Onaka, Tatsushi;
Ohtsuki, Sumio;
Terasaki, Tetsuya;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

Rotavirus gastroenteritis-associated urinary tract calculus in an infant.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 6, p. 769, doi. 10.24953/turkjped.2018.06.025

By:

Tsukida Kiwako;
Masahide Goto;
Naoki Yamaguchi;
Tomoyuki Imagawa;
Daisuke Tamura;
Takanori Yamagata

Publication type:

Article

Treatment of a patient with Kawasaki disease associated with selective IgA deficiency by continuous infusion of cyclosporine A without intravenous immunoglobulin.

Published in:

Turkish Journal of Pediatrics, 2016, v. 58, n. 6, p. 666, doi. 10.24953/turkjped.2016.06.015

By:

Tatsuya Anzai;
Takaomi Minami;
Tomoyuki Sato;
Sadahiro Furui;
Takanori Yamagata

Publication type:

Article

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00314-2

By:

Wakabayashi, Hiroko;
Matsumoto, Ayumi;
Komori, Sakiko;
Goto, Masahide;
Tajima, Toshihiro;
Sasaki, Aiko;
Matsumura, Takayoshi;
Yamagata, Takanori

Publication type:

Article

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00210-z

By:

Kobayashi, Mizuki;
Suzuki, Yuichi;
Nodera, Maki;
Matsunaga, Ayako;
Kohda, Masakazu;
Okazaki, Yasushi;
Murayama, Kei;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

The ATRX splicing variant c.21-1G>A is asymptomatic.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00212-x

By:

Kojima, Karin;
Wada, Takahito;
Shimbo, Hiroko;
Ikeda, Takahiro;
Jimbo, Eriko F.;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Yamagata, Takanori

Publication type:

Article

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Published in:

Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00198-6

By:

Hashiguchi, Marina;
Monden, Yukifumi;
Nozaki, Yasuyuki;
Watanabe, Kazuki;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00165-7

By:

Asakura, Yuta;
Osaka, Hitoshi;
Aoi, Hiromi;
Mizuguchi, Takeshi;
Matsumoto, Naomichi;
Yamagata, Takanori

Publication type:

Article

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.

Published in:

Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00142-0

By:

Wakabayashi, Kei;
Osaka, Hitoshi;
Kojima, Karin;
Imaizumi, Taichi;
Yamamoto, Toshiyuki;
Yamagata, Takanori

Publication type:

Article

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55293-1

By:

Miyauchi, Akihiko;
Watanabe, Chika;
Yamada, Naoya;
Jimbo, Eriko F.;
Kobayashi, Mizuki;
Ohishi, Natsumi;
Nagayoshi, Atsuko;
Aoki, Shiho;
Kishita, Yoshihito;
Ohtake, Akira;
Ohno, Nobuhiko;
Takahashi, Masafumi;
Yamagata, Takanori;
Osaka, Hitoshi

Publication type:

Article

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Published in:

Scientific Reports, 2024, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50668-2

By:

Matsumoto, Ayumi;
Kano, Shintaro;
Kobayashi, Natsumi;
Matsuki, Mitsuru;
Furukawa, Rieko;
Yamagishi, Hirokazu;
Yoshinari, Hiroki;
Nakata, Waka;
Wakabayashi, Hiroko;
Tsuda, Hidetoshi;
Watanabe, Kazuhisa;
Takahashi, Hironori;
Yamagata, Takanori;
Matsumura, Takayoshi;
Osaka, Hitoshi;
Mori, Harushi;
Iwamoto, Sadahiko

Publication type:

Article

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778

By:

Miyake, Noriko;
Abdel‐Salam, Ghada;
Yamagata, Takanori;
Eid, Maha M.;
Osaka, Hitoshi;
Okamoto, Nobuhiko;
Mohamed, Amal M.;
Ikeda, Takahiro;
Afifi, Hanan H.;
Piard, Juliette;
van Maldergem, Lionel;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Tsurusaki, Yoshinori;
Matsumoto, Naomichi

Publication type:

Article

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2483, doi. 10.1002/ajmg.a.37827

By:

Goto, Masahide;
Kagami, Masayo;
Nishimura, Gen;
Yamagata, Takanori

Publication type:

Article

Clinical correlations of mutations affecting six components of the SWI/ SNF complex: Detailed description of 21 patients and a review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1221, doi. 10.1002/ajmg.a.35933

By:

Kosho, Tomoki;
Okamoto, Nobuhiko;
Ohashi, Hirofumi;
Tsurusaki, Yoshinori;
Imai, Yoko;
Hibi‐Ko, Yumiko;
Kawame, Hiroshi;
Homma, Tomomi;
Tanabe, Saori;
Kato, Mitsuhiro;
Hiraki, Yoko;
Yamagata, Takanori;
Yano, Shoji;
Sakazume, Satoru;
Ishii, Takuma;
Nagai, Toshiro;
Ohta, Tohru;
Niikawa, Norio;
Mizuno, Seiji;
Kaname, Tadashi

Publication type:

Article

Atypical Dynamic-Connectivity Recruitment in Attention-Deficit/Hyperactivity Disorder Children: An Insight Into Task-Based Dynamic Connectivity Through an fNIRS Study.

Published in:

Frontiers in Human Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnhum.2020.00003

By:

Sutoko, Stephanie;
Monden, Yukifumi;
Tokuda, Tatsuya;
Ikeda, Takahiro;
Nagashima, Masako;
Funane, Tsukasa;
Atsumori, Hirokazu;
Kiguchi, Masashi;
Maki, Atsushi;
Yamagata, Takanori;
Dan, Ippeita

Publication type:

Article

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.

Published in:

2019

By:

Kojima, Karin;
Nakajima, Takeshi;
Taga, Naoyuki;
Miyauchi, Akihiko;
Kato, Mitsuhiro;
Matsumoto, Ayumi;
Ikeda, Takahiro;
Nakamura, Kazuyuki;
Kubota, Tetsuo;
Mizukami, Hiroaki;
Ono, Sayaka;
Onuki, Yoshiyuki;
Sato, Toshihiko;
Osaka, Hitoshi;
Muramatsu, Shin-ichi;
Yamagata, Takanori

Publication type:

journal article

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.

Published in:

Clinical Pediatric Endocrinology, 2022, v. 31, n. 4, p. 234, doi. 10.1297/cpe.2021-0065

By:

Khishigjargal Batjargal;
Toshihiro Tajima;
Eriko Fujita-Jimbo;
Takeshi Yamaguchi;
Akie Nakamura;
Takanori Yamagata

Publication type:

Article