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山形 崇倫 ヤマガタ タカノリ

所属部署名小児科学講座発達医学部門
職名教授ホームページURL

プロフィール

研究キーワード

    小児科学, 小児神経学, 発達障害, 人類遺伝学, 神経科学一般

研究分野

  • 内科系臨床医学 / 小児科学
  • 基礎医学 / 人類遺伝学
  • 神経科学 / 神経科学一般

経歴

  • 1997年11月
    -
    2000年03月
    ベイラー医科大学 人類遺伝学(リサーチフェロー)
  • 2011年05月
    -
    現在
    自治医科大学医学部小児科学(教授)

学歴

  • -
    1986年
    岐阜大学 医学部 医学科(日本)

所属学協会

  • 日本先天代謝異常学会
  • 日本ADHD学会
  • 日本小児遺伝学会
  • 日本神経学会
  • 日本神経感染症学会
  • 日本マススクリーニング学会
  • 日本小児科学会
  • 日本小児神経学会
  • 日本人類遺伝学会
  • 日本てんかん学会
所属学協会を全て表示する
所属学協会閉じる
  • 日本先天代謝異常学会
  • 日本ADHD学会
  • 日本小児遺伝学会
  • 日本神経学会
  • 日本神経感染症学会
  • 日本マススクリーニング学会
  • 日本小児科学会
  • 日本小児神経学会
  • 日本人類遺伝学会
  • 日本てんかん学会
  • アメリカ人類遺伝学会

学位

  • 医学博士

研究活動

論文

  • MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.
    Saito M, Yamagata T, Matsumoto A, Shiba Y, Nagashima M, Taniguchi S, Jimbo E, Momoi MY
    Brain & development 2013年02月
  • A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
    Namekawa M, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 33 1389-1392 2012年12月
  • Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.
    Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY
    Brain & development 2012年09月
  • Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case.
    Iwasa M, Yamagata T, Mizuguchi M, Itoh M, Matsumoto A, Hironaka M, Honda A, Momoi MY, Shimozawa N
    Neuropathology : official journal of the Japanese Society of Neuropathology 2012年09月
  • Clinically-oriented monitoring of acute effects of methylphenidate on cerebral hemodynamics in ADHD children using fNIRS.
    Monden Y, Dan H, Nagashima M, Dan I, Kyutoku Y, Okamoto M, Yamagata T, Momoi MY, Watanabe E
    Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 123(6) 1147-1157 2012年06月
  • A case of ADEM with atypical MRI findings of a centrally-located long spinal cord lesion.
    Monden Y, Yamagata T, Kuroiwa Y, Takahashi T, Mori M, Fukuda T, Sugie H, Momoi MY
    Brain & development 34 380-383 2012年05月
  • Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes.
    Hoshino A, Saitoh M, Oka A, Okumura A, Kubota M, Saito Y, Takanashi J, Hirose S, Yamagata T, Yamanouchi H, Mizuguchi M
    Brain & development 34(5) 337 2012年05月
  • Another promising treatment option for neuroblastoma-associated opsoclonus-myoclonus syndrome by oral high-dose dexamethasone pulse: lymphocyte markers as disease activity.
    Oguma M, Morimoto A, Takada A, Kashii Y, Fukuda T, Mori M, Yamagata T, Sugie H, Momoi MY
    Brain & development 34(3) 251-254 2012年03月
  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
    Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    Nature genetics 44 376-378 2012年03月
  • Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to Autism spectrum disorder.
    Fujita-Jimbo E, Yu ZL, Li H, Yamagata T, Mori M, Momoi T, Momoi MY
    PloS one 7 e51155 2012年
論文等(論文)を全て表示する
論文等(論文)閉じる
  • MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.
    Saito M, Yamagata T, Matsumoto A, Shiba Y, Nagashima M, Taniguchi S, Jimbo E, Momoi MY
    Brain & development 2013年02月
  • A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
    Namekawa M, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 33 1389-1392 2012年12月
  • Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.
    Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY
    Brain & development 2012年09月
  • Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case.
    Iwasa M, Yamagata T, Mizuguchi M, Itoh M, Matsumoto A, Hironaka M, Honda A, Momoi MY, Shimozawa N
    Neuropathology : official journal of the Japanese Society of Neuropathology 2012年09月
  • Clinically-oriented monitoring of acute effects of methylphenidate on cerebral hemodynamics in ADHD children using fNIRS.
    Monden Y, Dan H, Nagashima M, Dan I, Kyutoku Y, Okamoto M, Yamagata T, Momoi MY, Watanabe E
    Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 123(6) 1147-1157 2012年06月
  • A case of ADEM with atypical MRI findings of a centrally-located long spinal cord lesion.
    Monden Y, Yamagata T, Kuroiwa Y, Takahashi T, Mori M, Fukuda T, Sugie H, Momoi MY
    Brain & development 34 380-383 2012年05月
  • Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes.
    Hoshino A, Saitoh M, Oka A, Okumura A, Kubota M, Saito Y, Takanashi J, Hirose S, Yamagata T, Yamanouchi H, Mizuguchi M
    Brain & development 34(5) 337 2012年05月
  • Another promising treatment option for neuroblastoma-associated opsoclonus-myoclonus syndrome by oral high-dose dexamethasone pulse: lymphocyte markers as disease activity.
    Oguma M, Morimoto A, Takada A, Kashii Y, Fukuda T, Mori M, Yamagata T, Sugie H, Momoi MY
    Brain & development 34(3) 251-254 2012年03月
  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
    Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    Nature genetics 44 376-378 2012年03月
  • Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to Autism spectrum disorder.
    Fujita-Jimbo E, Yu ZL, Li H, Yamagata T, Mori M, Momoi T, Momoi MY
    PloS one 7 e51155 2012年
  • Elevated serum interleukin-7 level in idiopathic steroid-sensitive nephrotic syndrome.
    Kanai T, Shiraishi H, Yamagata T, Ito T, Odaka J, Saito T, Aoyagi J, Momoi MY
    Pediatrics international : official journal of the Japan Pediatric Society 53(6) 906-909 2011年12月
  • Foot process effacement with normal urinalysis in classic fabry disease.
    Kanai T, Yamagata T, Ito T, Odaka J, Saito T, Aoyagi J, Kobayashi M, Ohashi T, Ueda Y, Momoi MY
    JIMD reports 1 39-42 2011年
  • Th2 cells predominate in idiopathic steroid-sensitive nephrotic syndrome.
    Kanai T, Shiraishi H, Yamagata T, Ito T, Odaka J, Saito T, Aoyagi J, Momoi MY
    Clinical and experimental nephrology 14(6) 578-583 2010年12月
  • Impairment of social and emotional behaviors in Cadm1-knockout mice.
    Takayanagi Y, Fujita E, Yu Z, Yamagata T, Momoi MY, Momoi T, Onaka T
    Biochemical and biophysical research communications 396(3) 703-708 2010年06月
  • Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
    Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N
    American journal of human genetics 86(6) 881-891 2010年06月
  • Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay-Sachs disease.
    Hayase T, Shimizu J, Goto T, Nozaki Y, Mori M, Takahashi N, Namba E, Yamagata T, Momoi MY
    Brain & development 32(3) 244-247 2010年03月
  • Expression analysis and mutation detection of DLX5 and DLX6 in autism.
    Nakashima N, Yamagata T, Mori M, Kuwajima M, Suwa K, Momoi MY
    Brain & development 32(2) 98-104 2010年02月
  • Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
    Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T
    American journal of medical genetics. Part A 152A 133-140 2010年01月
  • Metabolic and hemodynamic advantages of an acetate-free citrate dialysate in a uremic case of congenital methylmalonic acidemia.
    Saito T, Saito O, Maeda T, Ito C, Ando Y, Yamagata T, Muto S, Momoi M, Kusano E
    American journal of kidney diseases : the official journal of the National Kidney Foundation 54 764-769 2009年10月
  • Macrophage inflammatory protein-1beta and interleukin-8 associated with idiopathic steroid-sensitive nephrotic syndrome.
    Kanai T, Yamagata T, Momoi MY
    Pediatrics international : official journal of the Japan Pediatric Society 51(4) 443-447 2009年08月
  • Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction.
    Ohkuchi A, Matsubara S, Takahashi K, Inoue S, Saito T, Mitsuhashi T, Yamagata T, Takahashi N, Watanabe A, Shimada T, Suzuki M
    The journal of obstetrics and gynaecology research 35(4) 797-800 2009年08月
  • Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.
    Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY
    Biochemical and biophysical research communications 377(3) 926-929 2008年12月
  • [A child with generalized myasthenia gravis successfully treated with tacrolimus].
    Goto T, Mori M, Yamagata T, Mizuguchi M, Momoi MY
    No to hattatsu. Brain and development 39(4) 300-303 2007年07月
  • Elevated CSF IL-6 in a patient with respiratory syncytial virus encephalopathy.
    Otake Y, Yamagata T, Morimoto Y, Imi M, Mori M, Aihara T, Ichiyama T, Momoi MY
    Brain & development 29(2) 117-120 2007年03月
  • A case of meningoencephalitis associated with G1P[8] rotavirus infection in a Japanese child.
    Goto T, Kimura H, Numazaki K, Akiyama M, Kato M, Noda M, Nozaki Y, Tanaka-Taya K, Taniguchi K, Yamagata T, Nishio O, Oogane T, Momoi MY, Okabe N
    Scandinavian journal of infectious diseases 39 1067-1070 2007年
  • Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior.
    Nishijima I, Yamagata T, Spencer CM, Weeber EJ, Alekseyenko O, Sweatt JD, Momoi MY, Ito M, Armstrong DL, Nelson DL, Paylor R, Bradley A
    Human molecular genetics 15 3241-3250 2006年11月
  • BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
    Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N
    American journal of medical genetics. Part A 140 205-211 2006年02月
  • Mutation analysis of methyl-CpG binding protein family genes in autistic patients.
    Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY
    Brain & development 27(5) 321-325 2005年08月
  • Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY
    Pediatric neurology 33 53-56 2005年07月
  • Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.
    Fujimoto M, Leech SN, Theron T, Mori M, Fawcett H, Botta E, Nozaki Y, Yamagata T, Moriwaki S, Stefanini M, Momoi MY, Nakagawa H, Shuster S, Moss C, Lehmann AR
    The Journal of investigative dermatology 125 86-92 2005年07月
  • Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.
    Li H, Yamagata T, Mori M, Momoi MY
    Brain & development 27(3) 207-210 2005年04月
  • RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
    Nakamura M, Yamagata T, Mori M, Momoi MY
    Brain & development 27(2) 114-117 2005年03月
  • Dichloroacetate treatment for mitochondrial cytopathy: long-term effects in MELAS.
    Mori M, Yamagata T, Goto T, Saito S, Momoi MY
    Brain & development 26 453-458 2004年10月
  • Beneficial effect of L-arginine for stroke-like episode in MELAS.
    Kubota M, Sakakihara Y, Mori M, Yamagata T, Momoi-Yoshida M
    Brain & development 26 481-3; discussion 480 2004年10月
  • Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.
    Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reyes C, Yuva-Paylor L, Armstrong D, Zoghbi H, Sweatt JD, Paylor R, Nelson DL
    The Journal of neuroscience : the official journal of the Society for Neuroscience 22 2753-2763 2002年04月
  • Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.
    Li H, Yamagata T, Mori M, Momoi MY
    Journal of human genetics 47(5) 262-265 2002年
  • Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable Loci in distal Xq28.
    Genomics 79:31-40 2002年
  • The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism.
    Genomics 80:185-194 2002年
  • Impaired conditioned fear and enhanced long-term potentiation in fmr2 knock-out mice.
    J Neurosci 22:2753-63 2002年
  • Large expansion of the ATTCT pertanucleotide repeat in spinocerebellar ataxia type 10.(共著)
    MATSUURA T, YAMAGATA T, RASMUSSEN A, GREWAL R P, WATASE K, ZU L, ACHARI M, ZOGHBI H Y, ASHIZAWA T
    Nature Genetics 26(2) 191-194 2000年
  • Elastic fiber degeneration in Costello syndrome. (共著)
    MORI M, YAMAGATA T, MORI Y, NOKUBI M, SAITO K, FUKUSHIMA Y, MOMOI M Y
    Am. J. Med. Genet. 61(4) 304-309 1995年
  • ステロイド療法が有効であった全身こむら返り病(里吉病)の一例.
    臨床神経 31 79-83 1991年


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