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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

  • アメリカ遺伝子細胞治療学会
  • 日本遺伝子細胞治療学会
  • 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
所属学協会を全て表示する
所属学協会閉じる
  • アメリカ遺伝子細胞治療学会
  • 日本遺伝子細胞治療学会
  • 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
  • アメリカ人類遺伝学会

学位

  • 医学博士

研究活動

論文

  • Long-term outcomes in motor and cognitive impairment with acute encephalopathy.
    Matsubara Y, Osaka H, Yamagata T, Ae R, Shimizu J, Oguro N
    Brain & development 40(9) 807-812 2018年10月
  • Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.
    Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H
    Brain & development 2018年09月
  • X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
    Nishikura N, Yamagata T, Morimune T, Matsui J, Sokoda T, Sawai C, Sakaue Y, Higuchi Y, Hashiguchi A, Takashima H, Takeuchi Y, Maruo Y
    Brain & development 2018年08月
  • Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies.
    Nagashima M, Osaka H, Ikeda T, Matsumoto A, Miyauchi A, Kaneko K, Nakashima I, Nakano Y, Wakabayashi K, Monden Y, Yamagata T
    Brain & development 40(7) 607-611 2018年08月
  • A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
    Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, Mori M, Namekawa M, Jimbo EF, Aihara T, Yamagata T, Osaka H
    Brain & development 40(7) 587-591 2018年08月
  • Atypical neural modulation in the right prefrontal cortex during an inhibitory task with eye gaze in autism spectrum disorder as revealed by functional near-infrared spectroscopy.
    Ikeda T, Hirai M, Sakurada T, Monden Y, Tokuda T, Nagashima M, Shimoizumi H, Dan I, Yamagata T
    Neurophotonics 5(3) 035008 2018年07月
  • Pharmacokinetics of Isoniazid-induced Rhabdomyolysis in a Girl.
    Kurane K, Goto M, Sano K, Noguchi K, Tamura D, Yamagata T
    Internal medicine (Tokyo, Japan) 2018年07月
  • Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
    Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T
    Brain & development 40(6) 498-502 2018年06月
  • A decreased soluble Klotho level with normal eGFR, FGF23, serum phosphate, and FEP in an ADPKD patient with enlarged kidneys due to multiple cysts.
    Kanai T, Shiizaki K, Betsui H, Aoyagi J, Yamagata T
    CEN case reports 2018年05月
  • Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.
    Nakamura S, Muramatsu SI, Takino N, Ito M, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T, Osaka H
    The journal of gene medicine 20(4) e3013 2018年04月
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論文等(論文)閉じる
  • Long-term outcomes in motor and cognitive impairment with acute encephalopathy.
    Matsubara Y, Osaka H, Yamagata T, Ae R, Shimizu J, Oguro N
    Brain & development 40(9) 807-812 2018年10月
  • Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.
    Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H
    Brain & development 2018年09月
  • X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
    Nishikura N, Yamagata T, Morimune T, Matsui J, Sokoda T, Sawai C, Sakaue Y, Higuchi Y, Hashiguchi A, Takashima H, Takeuchi Y, Maruo Y
    Brain & development 2018年08月
  • Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies.
    Nagashima M, Osaka H, Ikeda T, Matsumoto A, Miyauchi A, Kaneko K, Nakashima I, Nakano Y, Wakabayashi K, Monden Y, Yamagata T
    Brain & development 40(7) 607-611 2018年08月
  • A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
    Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, Mori M, Namekawa M, Jimbo EF, Aihara T, Yamagata T, Osaka H
    Brain & development 40(7) 587-591 2018年08月
  • Atypical neural modulation in the right prefrontal cortex during an inhibitory task with eye gaze in autism spectrum disorder as revealed by functional near-infrared spectroscopy.
    Ikeda T, Hirai M, Sakurada T, Monden Y, Tokuda T, Nagashima M, Shimoizumi H, Dan I, Yamagata T
    Neurophotonics 5(3) 035008 2018年07月
  • Pharmacokinetics of Isoniazid-induced Rhabdomyolysis in a Girl.
    Kurane K, Goto M, Sano K, Noguchi K, Tamura D, Yamagata T
    Internal medicine (Tokyo, Japan) 2018年07月
  • Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
    Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T
    Brain & development 40(6) 498-502 2018年06月
  • A decreased soluble Klotho level with normal eGFR, FGF23, serum phosphate, and FEP in an ADPKD patient with enlarged kidneys due to multiple cysts.
    Kanai T, Shiizaki K, Betsui H, Aoyagi J, Yamagata T
    CEN case reports 2018年05月
  • Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.
    Nakamura S, Muramatsu SI, Takino N, Ito M, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T, Osaka H
    The journal of gene medicine 20(4) e3013 2018年04月
  • The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
    Matsumoto A, Imagawa E, Miyake N, Ikeda T, Kobayashi M, Goto M, Matsumoto N, Yamagata T, Osaka H
    Brain & development 40(4) 325-329 2018年04月
  • Non-enhanced magnetic resonance imaging versus renal scintigraphy in acute pyelonephritis.
    Aoyagi J, Kanai T, Odaka J, Ito T, Saito T, Betsui H, Furukawa R, Nakata W, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 60(2) 200-203 2018年02月
  • A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
    Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T
    Brain & development 40(1) 69-73 2018年01月
  • Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.
    Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T
    Human genome variation 5 25 2018年
  • Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.
    Oguma M, Kobayashi M, Yamazaki M, Yokoyama K, Morikawa S, Yamaguchi T, Yamagata T, Tajima T
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 27(2) 95-100 2018年
  • Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia.
    Ueda A, Shimbo H, Yada Y, Koike Y, Yamagata T, Osaka H
    Human genome variation 5 18013 2018年
  • Miglustat therapy in a case of early-infantile Niemann-Pick type C.
    Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H
    Brain & development 39(10) 886-890 2017年11月
  • Characteristics of headaches in Japanese elementary and junior high school students: A school-based questionnaire survey.
    Goto M, Yokoyama K, Nozaki Y, Itoh K, Kawamata R, Matsumoto S, Yamagata T
    Brain & development 39(9) 791-798 2017年10月
  • Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.
    Kodachi T, Matsumoto S, Mizuguchi M, Osaka H, Kanai N, Nanba E, Ohno K, Yamagata T
    Neuropathology : official journal of the Japanese Society of Neuropathology 37(5) 426-430 2017年10月
  • Occult hepatitis B virus infection in immunized children born to carrier mothers.
    Yokoyama K, Kumagai H, Takahashi M, Nagashima S, Okamoto H, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 59(9) 1010-1016 2017年09月
  • Anomalous origin of the left coronary artery from the pulmonary artery: Early manifestation preventing diagnosis.
    Matsubara D, Suzuki Y, Yada Y, Minami T, Yamagata T
    International journal of cardiology 239 7 2017年07月
  • Assessment of Autistic Traits in Children Aged 2 to 4½ Years With the Preschool Version of the Social Responsiveness Scale (SRS-P): Findings from Japan.
    Stickley A, Tachibana Y, Hashimoto K, Haraguchi H, Miyake A, Morokuma S, Nitta H, Oda M, Ohya Y, Senju A, Takahashi H, Yamagata T, Kamio Y
    Autism research : official journal of the International Society for Autism Research 10(5) 852-865 2017年05月
  • A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
    Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T
    Brain & development 39(5) 439-443 2017年05月
  • Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.
    Goto M, Mizuno M, Matsumoto A, Yang Z, Jimbo EF, Tabata H, Yamagata T, Nagata KI
    Scientific reports 7 43945 2017年03月
  • Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.
    Nakamura S, Osaka H, Muramatsu SI, Takino N, Ito M, Aoki S, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T
    Molecular genetics and metabolism reports 10 67-74 2017年03月
  • Activation of Supraoptic Oxytocin Neurons by Secretin Facilitates Social Recognition.
    Takayanagi Y, Yoshida M, Takashima A, Takanami K, Yoshida S, Nishimori K, Nishijima I, Sakamoto H, Yamagata T, Onaka T
    Biological psychiatry 81(3) 243-251 2017年02月
  • Association of Oxytocin and Parental Prefrontal Activation during Reunion with Infant: A Functional Near-Infrared Spectroscopy Study.
    Ito J, Fujiwara T, Monden Y, Yamagata T, Ohira H
    Frontiers in pediatrics 5 271 2017年
  • 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.
    Matsubara D, Kataoka K, Matsubara T, Minami T, Yamagata T
    World journal of emergency medicine 8(4) 308-309 2017年
  • Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation.
    Yamazaki M, Sugie H, Oguma M, Yorifuji T, Tajima T, Yamagata T
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 26(3) 165-169 2017年
  • Apolipoprotein C-I Levels Are Associated with the Urinary Protein/Urinary Creatinine Ratio in Pediatric Idiopathic Steroid-Sensitive Nephrotic Syndrome: A Case Control Study.
    Odaka J, Kanai T, Ito T, Saito T, Aoyagi J, Betsui H, Yamagata T
    International journal of nephrology 2017 6392843 2017年
  • A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
    Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T
    Brain & development 38(10) 959-963 2016年11月
  • Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.
    Inaguma Y, Matsumoto A, Noda M, Tabata H, Maeda A, Goto M, Usui D, Jimbo EF, Kikkawa K, Ohtsuki M, Momoi MY, Osaka H, Yamagata T, Nagata KI
    Journal of neurochemistry 139(2) 245-255 2016年10月
  • Mesalazine allergy in a boy with ulcerative colitis: clinical usefulness of mucosal biopsy criteria.
    Wada S, Kumagai H, Yokoyama K, Ito T, Miyauchi A, Sakamoto S, Imagawa T, Tulyeu J, Tanaka M, Yamagata T
    Clinical journal of gastroenterology 9(5) 302-305 2016年10月
  • Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
    Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
    American journal of medical genetics. Part A 170(10) 2662-2670 2016年10月
  • Failure of Fecal Microbiota Transplantation in a Three-Year-Old Child with Severe Refractory Ulcerative Colitis.
    Kumagai H, Yokoyama K, Imagawa T, Inoue S, Tulyeu J, Tanaka M, Yamagata T
    Pediatric gastroenterology, hepatology & nutrition 19(3) 214-220 2016年09月
  • A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.
    Goto M, Kagami M, Nishimura G, Yamagata T
    American journal of medical genetics. Part A 170(9) 2483-2485 2016年09月
  • Functional dyspepsia and irritable bowel syndrome in teenagers: Internet survey.
    Kumagai H, Yokoyama K, Imagawa T, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 58(8) 714-720 2016年08月
  • Double-balloon Enteroscopy for Pediatric Patients: Evaluation of Safety and Efficacy in 257 Cases.
    Yokoyama K, Yano T, Kumagai H, Mizuta K, Ono S, Imagawa T, Yamamoto H, Yamagata T
    Journal of pediatric gastroenterology and nutrition 63(1) 34-40 2016年07月
  • A case of anti-NMDAR encephalitis presented hypotensive shock during plasma exchange.
    Miyauchi A, Monden Y, Osaka H, Takahashi Y, Yamagata T
    Brain & development 38(4) 427-430 2016年04月
  • Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.
    Kanai T, Ito T, Odaka J, Saito T, Aoyagi J, Betsui H, Yamagata T
    European journal of pediatrics 175(3) 427-431 2016年03月
  • Morphological characterization of Class III phosphoinositide 3-kinase during mouse brain development.
    Inaguma Y, Ito H, Iwamoto I, Matsumoto A, Yamagata T, Tabata H, Nagata K
    Medical molecular morphology 49(1) 28-33 2016年03月
  • Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
    Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
    European journal of human genetics : EJHG 24(1) 129-134 2016年01月
  • Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.
    Yang Z, Matsumoto A, Nakayama K, Jimbo EF, Kojima K, Nagata K, Iwamoto S, Yamagata T
    Brain & development 38(1) 91-99 2016年01月
  • Treatment of a patient with Kawasaki disease associated with selective IgA deficiency by continuous infusion of cyclosporine A without intravenous immunoglobulin.
    Anzai T, Minami T, Sato T, Furui S, Yamagata T
    The Turkish journal of pediatrics 58(6) 666-668 2016年
  • Cytokine profile in two siblings with neonatal lupus erythematosus.
    Shimozawa H, Kono Y, Matano M, Suzuki Y, Koike Y, Yada Y, Yamagata T, Takahashi N
    Pediatrics international : official journal of the Japan Pediatric Society 57(6) 1211-1214 2015年12月
  • [A patient with multiple anomalies, growth deficiency, and developmental delay associated with a chromosomal balanced translocation].
    Matsumoto A, Yamagata T
    No to hattatsu = Brain and development 47(6) 413-414 2015年11月
  • Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).
    Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T, Osaka H, Mizuguchi M
    Journal of the neurological sciences 358(1-2) 62-65 2015年11月
  • Mutational and functional analysis of Glucose transporter I deficiency syndrome.
    Nakamura S, Osaka H, Muramatsu S, Aoki S, Jimbo EF, Yamagata T
    Molecular genetics and metabolism 116(3) 157-162 2015年11月
  • Utility of serum ferritin and lactate dehydrogenase as surrogate markers for steroid therapy for Mycoplasma pneumoniae pneumonia.
    Kawamata R, Yokoyama K, Sato M, Goto M, Nozaki Y, Takagi T, Kumagai H, Yamagata T
    Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 21(11) 783-789 2015年11月
  • Renal-limited necrotizing granulomatous vasculitis in a pediatric patient.
    Odaka J, Kanai T, Ito T, Saito T, Aoyagi J, Ueda Y, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 57(4) 777-780 2015年08月
  • A case of post-pneumococcal acute glomerulonephritis with glomerular depositions of nephritis-associated plasmin receptor.
    Odaka J, Kanai T, Ito T, Saito T, Aoyagi J, Betsui H, Oda T, Ueda Y, Yamagata T
    CEN case reports 4(1) 112-116 2015年05月
  • Clinical and genetic features of acute encephalopathy in children taking theophylline.
    Saitoh M, Shinohara M, Ishii A, Ihara Y, Hirose S, Shiomi M, Kawawaki H, Kubota M, Yamagata T, Miyamoto A, Yamanaka G, Amemiya K, Kikuchi K, Kamei A, Akasaka M, Anzai Y, Mizuguchi M
    Brain & development 37(5) 463-470 2015年05月
  • Morphological characterization of mammalian timeless in the mouse brain development.
    Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H, Nagata K
    Neuroscience research 92 21-28 2015年03月
  • Seasonal variation in first episode of childhood idiopathic steroid-sensitive nephrotic syndrome and adult minimal change nephrotic syndrome.
    Odaka J, Kanai T, Uehara R, Kusano E, Yamagata T
    Clinical and experimental nephrology 19(1) 146-147 2015年02月
  • Apolipoprotein AII levels are associated with the UP/UCr levels in idiopathic steroid-sensitive nephrotic syndrome.
    Kanai T, Yamagata T, Ito T, Odaka J, Saito T, Aoyagi J, Momoi MY
    Clinical and experimental nephrology 19(1) 107-113 2015年02月
  • Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.
    Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata K
    Journal of neurochemistry 132(1) 61-69 2015年01月
  • Individual classification of ADHD children by right prefrontal hemodynamic responses during a go/no-go task as assessed by fNIRS.
    Monden Y, Dan I, Nagashima M, Dan H, Uga M, Ikeda T, Tsuzuki D, Kyutoku Y, Gunji Y, Hirano D, Taniguchi T, Shimoizumi H, Watanabe E, Yamagata T
    NeuroImage. Clinical 9 1-12 2015年
  • The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis.
    Fujita-Jimbo E, Tanabe Y, Yu Z, Kojima K, Mori M, Li H, Iwamoto S, Yamagata T, Momoi MY, Momoi T
    Molecular autism 6 17 2015年
  • 6q21-22 deletion syndrome with interrupted aortic arch.
    Matsumoto A, Nozaki Y, Minami T, Jimbo EF, Shiraishi H, Yamagata T
    Human genome variation 2 15015 2015年
  • Neuropharmacological effect of atomoxetine on attention network in children with attention deficit hyperactivity disorder during oddball paradigms as assessed using functional near-infrared spectroscopy.
    Nagashima M, Monden Y, Dan I, Dan H, Mizutani T, Tsuzuki D, Kyutoku Y, Gunji Y, Hirano D, Taniguchi T, Shimoizumi H, Momoi MY, Yamagata T, Watanabe E
    Neurophotonics 1(2) 025007 2014年10月
  • A new method for measuring the speed of sound in rat liver ex vivo using an ultrasound system: correlation of sound speed with fat deposition.
    Kumagai H, Yokoyama K, Katsuyama K, Hara S, Yamamoto H, Yamagata T, Taniguchi N, Hirota N, Itoh K
    Ultrasound in medicine & biology 40(10) 2499-2507 2014年10月
  • Endoscopic ultrasonography appearance of pancreatic rest.
    Kumagai H, Yokoyama K, Shimamura W, Miura Y, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 56(4) 654 2014年08月
  • Neuropharmacological effect of methylphenidate on attention network in children with attention deficit hyperactivity disorder during oddball paradigms as assessed using functional near-infrared spectroscopy.
    Nagashima M, Monden Y, Dan I, Dan H, Tsuzuki D, Mizutani T, Kyutoku Y, Gunji Y, Momoi MY, Watanabe E, Yamagata T
    Neurophotonics 1(1) 015001 2014年07月
  • Utility of non-enhanced magnetic resonance imaging to detect acute pyelonephritis.
    Aoyagi J, Odaka J, Kuroiwa Y, Nakashima N, Ito T, Saito T, Kanai T, Yamagata T, Momoi MY
    Pediatrics international : official journal of the Japan Pediatric Society 56(3) e4-6 2014年06月
  • Persistent presence of the anti-myelin oligodendrocyte glycoprotein autoantibody in a pediatric case of acute disseminated encephalomyelitis followed by optic neuritis.
    Miyauchi A, Monden Y, Watanabe M, Sugie H, Morita M, Kezuka T, Momoi M, Yamagata T
    Neuropediatrics 45(3) 196-199 2014年06月
  • Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.
    Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY, Mizuguchi T
    Brain & development 36(6) 523-527 2014年06月
  • New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
    Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y
    Annals of clinical and translational neurology 1(5) 361-369 2014年05月
  • [Genetic analysis and genes relating synaptic function for autism spectrum disorder].
    Yamagata T, Matsumoto A, Nagata K
    No to hattatsu = Brain and development 46(2) 125-130 2014年03月
  • Acute neuropharmacological effects of atomoxetine on inhibitory control in ADHD children: a fNIRS study.
    Nagashima M, Monden Y, Dan I, Dan H, Tsuzuki D, Mizutani T, Kyutoku Y, Gunji Y, Hirano D, Taniguchi T, Shimoizumi H, Momoi MY, Watanabe E, Yamagata T
    NeuroImage. Clinical 6 192-201 2014年
  • LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.
    Matsumoto A, Mizuno M, Hamada N, Nozaki Y, Jimbo EF, Momoi MY, Nagata K, Yamagata T
    PloS one 9(3) e92695 2014年
  • An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
    Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T
    Journal of human genetics 58(11) 755-757 2013年11月
  • Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
    Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H
    Epilepsia 54(7) 1282-1287 2013年07月
  • Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
    Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N
    American journal of medical genetics. Part A 161A(6) 1221-1237 2013年06月
  • 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 36(1) 64-69 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(6) 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 35(6) 582-585 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 33(3) 292-298 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(5) 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) 337-343 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(4) 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(12) e51155 2012年
  • Right prefrontal activation as a neuro-functional biomarker for monitoring acute effects of methylphenidate in ADHD children: An fNIRS study.
    Monden Y, Dan H, Nagashima M, Dan I, Tsuzuki D, Kyutoku Y, Gunji Y, Yamagata T, Watanabe E, Momoi MY
    NeuroImage. Clinical 1(1) 131-140 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(1) 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(4) 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(11-12) 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(21) 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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