YAMAGATA Takanori

FacultyPediatricsDevelopmentalMedicine
Job titleProfessorWeb site

Profile

Research Keywords

    developmental disorder, pediatric neurology, neuroscience, human genetics, pediatrics

Research Areas

  • Life sciences / Fetal medicine/Pediatrics
  • Life sciences / Medical biochemistry
  • Life sciences / Neuroscience - general
  • Life sciences / Neuroscience - general

Career

  • May2011
    -
    Today
    Department of Pediatrics, Jichi Medical University, Professor
  • Nov.1997
    -
    Mar.2000
    Departement of Molecular and Human Genetics, research fellow

Academic Background

  • -
    1986
    School of Medicine, Gifu University (JPN)
  • -
    1986
    Faculty of Medicine, Gifu University

Academic Societies

  • American society of gene and cell therapy
  • Japanese society of gene and cell therapy
  • Japanese Society for Mass-screening
  • Japanese Society for Neuroinfectious Diseases
  • JAPANESE SOCIETY OF NEUROLOGY
  • The Japan Society of Pediatric Genetics
  • JAPANESE SOCIETY FOR INHERITED METABOLIC DISEASES
  • The American Society of Human Gevetics
  • The Japan Epilepsy Society
  • THE JAPAN SOCIETY OF HUMAN GENETICS
Display all
Academic Societiesclose
  • American society of gene and cell therapy
  • Japanese society of gene and cell therapy
  • Japanese Society for Mass-screening
  • Japanese Society for Neuroinfectious Diseases
  • JAPANESE SOCIETY OF NEUROLOGY
  • The Japan Society of Pediatric Genetics
  • JAPANESE SOCIETY FOR INHERITED METABOLIC DISEASES
  • The American Society of Human Gevetics
  • The Japan Epilepsy Society
  • THE JAPAN SOCIETY OF HUMAN GENETICS
  • THE JAPANESE SOCIETY OF CHILD NEUROLOGY
  • JAPAN PEDIATRIC SOCIETY

Research Activities

Papers(paper)

  • MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.
    Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H
    Brain & development 41(5) 465-469 May 2019
  • A boy with duodenocolic fistula mimicking functional gastrointestinal disorder.
    Okada Y, Yokoyama K, Yano T, Kumagai H, Morikawa T, Kobayashi Y, Imagawa T, Yamagata T
    Clinical journal of gastroenterology Apr. 2019
  • Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
    Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T
    Brain : a journal of neurology 142(2) 322-333 Feb. 2019
  • 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 Oct. 2018
  • Hypercytokinemia with hemophagocytic syndrome due to human metapneumovirus.
    Tamura D, Inoue S, Kawahara Y, Mori M, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 60(10) 974-976 Oct. 2018
  • 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 Sep. 2018
  • A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
    Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, Chika Watanabe, Yukifumi Monden, Yasuyuki Nozaki, Masato Mori, Michito Namekawa, Eriko F Jimbo, Toshinori Aihara, Takanori Yamagata, Hitoshi Osaka
    Brain & development 40(7) 587-591 Aug. 2018
  • 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 Aug. 2018
  • Pharmacokinetics of Isoniazid-induced Rhabdomyolysis in a Girl.
    Kurane K, Goto M, Sano K, Noguchi K, Tamura D, Yamagata T
    Internal medicine (Tokyo, Japan) Jul. 2018
  • 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 May 2018
Display all
Papers(paper)close
  • MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.
    Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H
    Brain & development 41(5) 465-469 May 2019
  • A boy with duodenocolic fistula mimicking functional gastrointestinal disorder.
    Okada Y, Yokoyama K, Yano T, Kumagai H, Morikawa T, Kobayashi Y, Imagawa T, Yamagata T
    Clinical journal of gastroenterology Apr. 2019
  • Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
    Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T
    Brain : a journal of neurology 142(2) 322-333 Feb. 2019
  • 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 Oct. 2018
  • Hypercytokinemia with hemophagocytic syndrome due to human metapneumovirus.
    Tamura D, Inoue S, Kawahara Y, Mori M, Yamagata T
    Pediatrics international : official journal of the Japan Pediatric Society 60(10) 974-976 Oct. 2018
  • 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 Sep. 2018
  • A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
    Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, Chika Watanabe, Yukifumi Monden, Yasuyuki Nozaki, Masato Mori, Michito Namekawa, Eriko F Jimbo, Toshinori Aihara, Takanori Yamagata, Hitoshi Osaka
    Brain & development 40(7) 587-591 Aug. 2018
  • 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 Aug. 2018
  • Pharmacokinetics of Isoniazid-induced Rhabdomyolysis in a Girl.
    Kurane K, Goto M, Sano K, Noguchi K, Tamura D, Yamagata T
    Internal medicine (Tokyo, Japan) Jul. 2018
  • 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 May 2018
  • 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 Apr. 2018
  • 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 Feb. 2018
  • 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 Jan. 2018
  • 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
  • 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
  • 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
  • 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 Nov. 2017
  • 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 Oct. 2017
  • 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 Sep. 2017
  • 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 Jul. 2017
  • Assessment of Autistic Traits in Children Aged 2 to 41/2 Years With the Preschool Version of the Social Responsiveness Scale (SRS-P): Findings from Japan
    Andrew Stickley, Yoshiyuki Tachibana, Keiji Hashimoto, Hideyuki Haraguchi, Atsuko Miyake, Seiichi Morokuma, Hiroshi Nitta, Masako Oda, Yukihiro Ohya, Ayako Senju, Hidetoshi Takahashi, Takanori Yamagata, Yoko Kamio
    AUTISM RESEARCH 10(5) 852-865 May 2017
  • 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 Mar. 2017
  • 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
  • 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
  • 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
  • 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 Nov. 2016
  • 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 Oct. 2016
  • 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 Oct. 2016
  • 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 Oct. 2016
  • 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 Sep. 2016
  • 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 Sep. 2016
  • 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 Aug. 2016
  • 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 Jul. 2016
  • 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 Mar. 2016
  • 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 Mar. 2016
  • 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 Jan. 2016
  • 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
  • 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 Dec. 2015
  • 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 Nov. 2015
  • 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 Nov. 2015
  • 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 Nov. 2015
  • [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 Nov. 2015
  • 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 Aug. 2015
  • 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 May 2015
  • 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 May 2015
  • 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 Mar. 2015
  • 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 Feb. 2015
  • 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 Feb. 2015
  • 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 Jan. 2015
  • 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
  • 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
  • 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 Oct. 2014
  • 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 Aug. 2014
  • 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 Jun. 2014
  • 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 Jun. 2014
  • 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 Jun. 2014
  • 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 May 2014
  • [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 Mar. 2014
  • 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
  • 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 Nov. 2013
  • 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 Jul. 2013
  • 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 Jun. 2013
  • 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 Feb. 2013
  • 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 Dec. 2012
  • 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 Sep. 2012
  • 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 Sep. 2012
  • 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 Jun. 2012
  • 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 May 2012
  • 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 May 2012
  • 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 Mar. 2012
  • 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 Mar. 2012
  • 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
  • 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
  • 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 Dec. 2011
  • 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
  • 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 Dec. 2010
  • 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 Jun. 2010
  • 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 Jun. 2010
  • 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 Mar. 2010
  • 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 Feb. 2010
  • 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 Jan. 2010
  • 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 Oct. 2009
  • 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 Aug. 2009
  • 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 Aug. 2009
  • 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 Dec. 2008
  • [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 Jul. 2007
  • 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 Mar. 2007
  • 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 Nov. 2006
  • 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 Feb. 2006
  • 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 Aug. 2005
  • Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY
    Pediatric neurology 33 53-56 Jul. 2005
  • 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 Jul. 2005
  • 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 Apr. 2005
  • RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
    Nakamura M, Yamagata T, Mori M, Momoi MY
    Brain & development 27(2) 114-117 Mar. 2005
  • 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 Oct. 2004
  • 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 Oct. 2004
  • 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 Apr. 2002
  • 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
  • The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism.
    Genomics 80:185-194 2002


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