Publications 2013 (Oct. 2012 – Sept. 2013)

  • Kinai E, Hosokawa S, Gomibuchi H, Gatanaga H, Kikuchi Y, Oka S. Blunted fetal growth by tenofovir in late pregnancy. AIDS. 2012 ;26:2119-2120.
  • Nakayama T, Kumagai T, Ishii KJ, Ihara T. Alum-adjuvanted H5N1 whole virion inactivated vaccine (WIV) induced IgG1 and IgG4 antibody responses in young children. Vaccine. 2012; 30:7662-7666.
  • Qualls JE, Subramanian C, Rafi W, Smith AM, Balouzian L, DeFreitas AA, Shirey KA, Reutterer B, Kernbauer E, Stockinger S, Decker T, Miyairi I, Vogel SN, Salgame P, Rock CO, Murray PJ. Sustained generation of nitric oxide and control of mycobacterial infection requires argininosuccinate synthase 1. Cell Host Microbe. 2012;12:313-323.
  • Okada T, Morozumi M, Tajima T, Hasegawa M, Sakata H, Ohnari S, Chiba N, Iwata S, Ubukata K. Rapid effectiveness of minocycline or doxycycline against macrolide-resistant Mycoplasma pneumoniae infection in a 2011 outbreak among Japanese children. Clin Infect Dis. 2012;55:1642-1649.
  • Shinjoh M, Takano Y, Takahashi T, Hasegawa N, Iwata S, Sugaya N. Postexposure prophylaxis for influenza in pediatric wards oseltamivir or zanamivir after rapid antigen detection. Pediatr Infect Dis J. 2012;31:1119-1123.
  • Shinjoh M, Iketani O, Watanabe K, Shimojima N, Kudo M, Yamagishi H, Shimada H, Sugita K, Takahashi T, Mori T, Hasegawa N, Iwata S. Safety and efficacy of linezolid in 16 infants and children in Japan. J Infect Chemother. 2012;18:591-596.
  • Okada T, Morozumi M, Sakata H, Takayanagi R, Ishiwada N, Sato Y, Oishi T, Tajima T, Haruta T, Kawamura N, Ouchi K, Matsubara K, Chiba N, Takahashi T, Iwata S, Ubukata K.
    A practical approach estimating etiologic agents using real-time PCR in pediatric inpatients with community-acquired pneumonia. J Infect Chemother. 2012; 18: 832-40.
  • Sunakawa K, Tsukimoto I, Tsunematsu Y, Honda M, Iwai N, Maniwa T, Haigo H, Suzuki K and Mori T; Evaluation of the safety and efficacy of liposomal amphotericin B (L-AMB) in children. J Infect Chemother. 2012;18: 456-465.
  • Takesue Y , Watanabe A , Hanaki H, Kusachi S, Matsumoto T, Iwamoto A, Totsuka K, Sunakawa K, Yagisawa M, Sato J, Oguri T, Nakanishi K, Sumiyama Y, Kitagawab Y, Wakabayashi G, Koyama I, Yanaga K, Konishi T, Fukushima R, Seki S, Imai S, Shintani T, Tsukada H, Tsukada K, Omura K, Mikamo H, Takeyama H, Kusunoki M, Kubo S, Shimizu J, Hirai T, Ohge H, Kadowaki A, Okamoto K, Yanagihara K. Nationwide surveillance of antimicrobial susceptibility patterns of pathogens isolated from surgical site infections (SSI) in Japan. J Infect Chemother. 2012;18: 816-826.
  • Watanabe A, Yanagihara K, Matsumoto T, Kohno S, Aoki N, Oguri T, Sato J, Muratani T, Yagisawa M, Ogasawara K, Koashi N, Kozuki T, Komoto A, Takahashi Y, Tsuji T, Terada M, Nakanishi K, Hattori R, Hirako Y, Maruo A, Minamitani S, Morita K, Wakamura T, Sunakawa K, Hanaki H, Ohsaki Y, Honda Y, Sasaoka S, Takeda H, Ikeda H, Sugai A, Miki M, Nakanowatari S, Takahashi H, Utagawa M, Kobayashi N, Takasaki J, Konosaki H, Aoki Y, Shoji M, Goto H, Saraya T, Kurai D, Okazaki M, Kobayashi Y, Katono Y, Kawana A, Saionji K, Miyazawa N, Sato Y, Watanuki Y, Kudo M, Ehara S, Tsukada H, Imai Y, Watabe N, Aso S, Honma Y, Mikamo H, Yamagishi Y, Takesue Y, Wada Y, Nakamura T, Mitsuno N, Mikasa K, Kasahara K, Uno K, Sano R, Miyashita N, Kurokawa Y, Takaya M, Kuwabara M, Watanabe Y, Doi M, Shimizu S, Negayama K, Kadota J, Hiramatsu K, Morinaga Y, Honda J, Fujita M, Iwata S, Iwamoto A, Ezaki T, Onodera S, Kusachi S, Tateda K, Tanaka M, Totsuka K, Niki Y, Matsumoto T. Nationwide surveillance of bacterial respiratory pathogens conducted by the Surveillance Committee of Japanese Society of Chemotherapy, Japanese Association for Infectious Diseases, and Japanese Society for Clinical Microbiology in 2009: general view of the pathogens’ antibacterial susceptibility. J Infect Chemother. 2012; 18: 609-20.
  • Chiba N, Morozumi M, Shouji M, Wajima T, Iwata S, Sunakawa K, Ubukata K ,And The Invasive Pneumococcal Diseases Surveillance Study Group. Rapid decrease of 7-valent conjugate vaccine coverage for invasive pneumococcal diseases in pediatric patients in Japan. Microb Drug Resist. 2013;19:308-315.
  • Hanaoka M, Hisano M, Watanabe N, Sugawara K, Kambe Y, Kanda E, Sago H, Kato T, Yamaguchi K. Changes in the prevalence of the measles, rubella, varicella-zoster, and mumps virus antibody titers in Japanese pregnant women. Vaccine. 2013;31:2343-2347.
  • Iwata S, Nakata S, Ukae S, Koizumi Y, Morita Y, Kuroki H, Tanaka Y, Shizuya T, Schödel F, Brown ML, Lawrence J. Efficacy and safety of pentavalent rotavirus vaccine in Japan: A randomized, double-blind, placebo-controlled, multicenter trial. Hum Vaccin Immunother. 2013 May 31; 9(8). [Epub ahead of print]
  • Jackson W, Yamada M, Moninger T, Grose C. Visualization and quantitation of abundant macroautophagy in virus-infected cells by confocal three-dimensional fluorescence imaging. J Virol Methods. 2013;193: 244-250.
  • Kamei A, Wu W, Traficante DC, Koh AY, Van Rooijen N, Pier GB, Priebe GP.Collaboration between macrophages and vaccine-induced CD4 T cells confers protection against lethal Pseudomonas aeruginosa pneumonia during neutropenia. JInfectDis. 2013:207;39-49.
  • Morozumi M, Wajima T, Kuwata Y, Chiba N, Sunaoshi K, Sugita K, Sakata H, Iwata S, Ubukata K. Associations between capsular serotype, multilocus sequence type, and macrolide resistance in Streptococcus agalactiae isolates from Japanese infants with invasive infections. Epidemiol Infect. 2013; 18: 1-8.

    Matsubara K, Fujino M, Takeuchi K, Iwata S, Nakayama T. A New Method for the Detection of Neutralizing Antibodies against Mumps Virus. PLoS One. 2013; 5; 8:e65281.
  • Mitamura K, Shimizu H, Yamazaki M, Ichikawa M, Nagai K, Katada J, Wada A, Kawakami C, Sugaya N. Clinical evaluation of highly sensitive silver amplification immunochromatography systems for rapid diagnosis of influenza. J Virol Methods. 2013 Aug 28. [Epub ahead of print]
  • Nakayama T, Sawada A, Kubo H, Kaida A, Tanaka T, Shigemonto N, Komase K, Takeda M. Simple method for differentiating measles vaccine from wild-type strains using loop-mediated isothermal amplification. Microbiol Immunol. 2013;57:246-251.
  • Oishi T, Ishiwada N, Matsubara K, Nishi J,Chang B, Tamura K, Akeda Y, IharaT, NahmMH, Oishi K.Japanese IPD Study Group(Okada K, Nakano T, Akeda H, Habu M, Yamaguchi E, Komiya K, Kido S, Niizuma T, Arao M, Ishiwada F, Kubota M, Furuno K, Yamaguchi Y, Obinata K, Yoshioka M, Naito T). Low opsonic activity to the infecting serotype in pediatric patients with invasive pneumococcal disease.Vaccine.2013;21:845-849.
  • Sato M, Ito S, Ogura M, Kamei K, Miyairi I, Miyata I, Higuchi M, Matsuoka K. Atypical Pneumocystis jiroveci pneumonia with multiple nodular granulomas after rituximab for refractory nephrotic syndrome. Pediatr Nephrol. 2013;28:145-149.
  • Shoji K, Komuro H, Watanabe Y, Miyairi I. The utility of anaerobic blood culture in detecting facultative anaerobic bacteremia in children. Diagn Microbiol Infect Dis. 2013;76:409-412.
  • Shoji K, Komuro H, Miyata I, Miyairi I, Saitoh A. Dermatologic manifestations of human parechovirus type 3 infection in neonates and infants. Pediatr Infect Dis J. 2013;32:233-236.
  • Yamada M, Kamberos N, Grose C. Breakthrough varicella in a Cancer patient with persistent varicella antibody after one varicella vaccination. J Pediatr. 2013 Aug 6 [Epub ahead of print]
  • Hoshino T, Sato Y, Toyonaga Y, Hanaki H, Sunakawa K, The Drug-Resistant Pathogen Surveillance Group in Pediatric Infectious Disease. Nationwide survey of the development of drug resistance in the pediatric field in 2007 and 2010: drug sensitivity of Haemophilus influenzae in Japan (second report). J Infect Chemother. 2013;19:495-503.
  • Ichikawa T, Tsuji A, Fujino M, Kusano R, Sugiyama R, Oomori S, Mori K, Maeyama K, Nakayama T. Effect of early measles vaccination (AIK-C strain) for preterm infants. Pediatr Int 2013; 55: 163-168.
  • Mitamura K, Kawakami C, Shimizu H, Abe T, Konomi Y, Yasumi Y, Yamazaki M, Ichikawa M, Sugaya N. Evaluation of a new immunochromatographic assay for rapid identification of influenza A, B, and A(H1N1)2009 viruses. J Infect Chemother. 2013:19:633-8.
  • Morozumi M, Chiba N, Okada T, Sakata H, Matsubara K, Iwata S, Ubukata K. Antibiotic susceptibility in relation to genotype of Streptococcus pneumoniae, Haemophilus influenzae, and Mycoplasma pneumoniae responsible for community-acquired pneumonia in children.
    J Infect Chemother. 2013; 19: 432-40.
  • Sawada A, Yamaji Y, Nakayama T. Mumps Hoshino and Torii vaccine strains were distinguished from circulating wild strains. J Infect Chemother 2013; 19: 480-485.
  • Tajima T, Sato Y, Toyonaga Y, Hanaki H, Sunakawa K. Nationwide survey of the development of drug-resistant pathogens in the pediatric field in 2007 and 2010: drug sensitivity of Streptococcus pneumoniae in Japan (second report). J Infect Chemother. 2013;19:510-6.
  • Takei T, Morozumi M, Ozaki H, Fujita H, Ubukata K, Kobayashi I, Kadota K, Miyamae T, Yokota S, Iwata S, Takahashi T. Clinical Features of Mycoplasma pneumoniae Infections in the 2010 Epidemic Season: Report of Two Cases with Unusual Presentations. Pediatr Neonatol. 2013 [Epub ahead of print]
  • Takei T, Chiba N, Fujita H, Morozumi M, Kuwata Y, Kishii K, Ubukata K, Iwata S, Takahashi T. Late-onset invasive group B Streptococcal infection with serotype VIII in a neonate having congenital biliary atresia. Pediatr Neonatol. 2013; 54: 63-6.
  • Ubukata K, Chiba N, Morozumi M, Iwata S, Sunakawa K,Working Group of Nationwide Surveillance for Bacterial Meningitis. Longitudinal surveillance of Haemophilus influenzae isolates from pediatric patients with meningitis throughout Japan, 2000-2011. J Infect Chemother. 2013; 19: 34-41.
  • Takagaki Y, Yamagishi H, Matsuoka R. Factors involved in signal transduction during vertebrate myogenesis. Int Rev Cell Mol Biol. 2012;296:187-272.
  • Tokumura M, Watanabe H, Esaki T. Convalescent resting tachycardia predicts unfavorable outcome of anorexia nervosa. Pediatr Int. 2012;54:844-848.
  • Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, Yasui S. Nemaline myopathy with dilated cardiomyopathy in childhood. Pediatrics. 2013;131:e1986-90.
  • Wada R, Muraoka N, Inagawa K, Yamakawa H, Miyamoto K, Sadahiro T, Umei T, Kaneda R, Suzuki T, Kamiya K, Tohyama S, Yuasa S, Kokaji K, Aeba R, Yozu R, Yamagishi H, Kitamura T, Fukuda K, Ieda M. Induction of human cardiomyocyte-like cells from fibroblasts by defined factors. Proc Natl Acad Sci USA. 2013;110:12667-72.
  • Cho-Hisamoto Y, Kojima K, Brown EC, Matsuzaki N, Asano E. Cooing- and babbling-related gamma-oscillations during infancy: intracranial recording. Epilepsy and Behavior 2012;23:494-6.
  • Okishio E, Arimitsu T, Miwa M, Matsuzaki Y, Hokuto I, Ikeda K. Metabolic acidosis due to continuous drainage of massive chylous pleural effusion in two neonates.Pediatr Int. 2012 ;54:732-3.
  • Miyazaki K, Abe Y, Iwanari H, Suzuki Y, Kikuchi T, Ito T, Kato J, Kusano-Arai O, Takahashi T, Nishiyama S, Ikeshima-Kataoka H, Tsuji S, Arimitsu T, Kato Y, Sakihama T, Toyama Y, Fujihara K, Hamakubo T, Yasui M. Establishment of monoclonal antibodies against the extracellular domain that block binding of NMO-IgG to AQP4. J Neuroimmunol. 2013;15;260:107-16.
  • Akizawa Y, Nishimura G, Hasegawa T, Takagi M, Kawamichi Y, Matsuda Y, Matsui H, Saito K. Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography (CT): the current state of fetal CT. Cong Anomalies. 2012;52:203-206.
  • Takagi M, Kaneko-Schmitt S, Suzumori N, Nishimura G, Hasegawa T. Atypical Achondroplasia due to Somatic Mosaicism for the Common Thanatophoric Dysplasia Mutation R248C. Am J Med Genet. 2012;158:247-250.
  • Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T. A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. Am J Med Genet. 2012;158(A):261-264.
  • Takagi M, Ishii T, Barnes AM, Weis MA, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfect. PLos One. 2012;7:e36809.
  • Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet. 2012;49:533-538.
  • Yamada T, Takagi M, Nishimura G, Akaishi R, Furuta I, Morikawa M, Yamada T, Cho K, Sawai H, Ikegawa S, Hasegawa T, Minakami H. Recurrence of osteogenesis imperfect due to maternal mosaicism of a novel COL1A1 mutation. Am J Med Genet A. 2012;158A:1969-2971.
  • Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T. Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a a disease mechanism. Eur J Endocrinol. 2012;167:625-632.
  • Takagi M, Ishii T, Inokuchi M, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Gradual loss of ACTH due to a novel mutation in LHX4: Comprehensive mutation screening in Japanese patients with congenital hypopituitarism. Plos One. 2012;7:e46008.
  • Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. PRKAR1A mutation affecting cAMP-mediated G-protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. J Clin Endocrinol Metab. 2012;97:E1808-1813.
  • Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyodo M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T. Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations. Epigenetics. 2012;7:1142-1150.
  • Fukami M, Shozu M, Ogata T. Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome. Int J Endocrinol. 2012;584807.
  • Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T. Mamld1 Deficiency Significantly Reduces mRNA Expression Levels of Multiple Genes Expressed in Mouse Fetal Leydig Cells but Permits Normal Genital and Reproductive Development. Endocrinology. 2012;153:6033-6040.
  • Qin XY, Sone H, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Hisada A, Zaha H, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T. Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients. PLoS One. 2012;7:e52756.
  • Ogata T, Sano S, Nagata E, Kato F, Fukami M. MAMLD1 and 46,XY Disorders of Sex Development. Semin Reprod Med. 2012;30:410-416.
  • Suwanai SA, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. Clin Endocrinol (Oxf) 2013;78:957-965.
  • Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, Hasegawa T. Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. Am J Med Genet. 2013;161A:214-217.
  • Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S-i, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T. Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment. J Inherit Metab Dis. 2013;36:565-573.
  • Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T. Congenital hypothyroidism caused by a novel mutation of the dual oxidase2 (DUOX2) gene. J Pediatr Endor Met. 2013;26:45-52.
  • Koyama Y, Homma K, Miwa M, Ikeda K, Murata M, Hasegawa T. Reference intervals of urinary free adrenal steroids in Japanese newborn infants using stable isotope dilution – gas chromatography / mass spectrometry. Clin Chem Acta. 2013;415:302-305.
  • Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T. Quantitative and sensitive detection of GNAS mutations causing McCune-Albright syndrome with next generation sequencing. PLos One. 2013;8:e60525.
  • Tai S, Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Fujieda K, Chihara K, Seino Y. An observational study of the effectiveness and safety of growth hormone (HUmatrope) treatment in Japanese children with growth hormone deficiency or Turner syndrome. Endcr J. 2013;60:57-64.

    Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLos One. 2013;8:e60105.
  • Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M. Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. GH IGF Res. 2013;23:89-97.
  • Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M. Association between Graves’ Disease and Renal Coloboma Syndrome: a case. Clin Pediatr Endocrinol. 2013;22:45-51.
  • Fukami M, Homma K, Hasegawa T, Ogata T. Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development. Mech Dev. 2013;242:320-329.
  • Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. Neuromuscular Symptoms in a Patient with Familial Pseudohypoparathyroidism Type Ib Diagnosed by Methylation-Specific Multiplex Ligation-Dependent Probe Amplification. Endocr J. 2013;60:231-236.
  • Ayabe T, Matsubara K. Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M. Birth Seasonality in Prader-Willi Syndrome Resulting from Chromosome 15 Microdeletion. Am J Med Genet A. 2013;161:1495-1497.
  • Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development. Plos One. 2013;8: e68194.
  • Enkai S, Koinuma S, Ito R, Igaki J, Hasegawa Y, Murayama K, Ohtake A. Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder. Pediatr Int. 2013:55:e103-6.
  • Ariyasu D, Yoshida H, Yamada M, Hasegawa Y. Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice-site mutations. Endocrinology. 2013:154:3228-3239.
  • Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. Endocr J. 2013:60:855-859.
    Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocr J. 2013:60:1013-1020.
    Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S-i, Watanabe K, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013:93:173-180.

    Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012;44:1260-4.
  • Nishiyama J, Hayashi Y, Nomura T, Miura E, Kakegawa W, Yuzaki M. Selective and regulated gene expression in murine Purkinje cells by in utero electroporation. Eur J Neurosci. 2012;36:2867-76.
  • Shimada H, Okada Y, Ibata K, Ebise H, Ota S, Tomioka I, Nomura T, Maeda T, Kohda K, Yuzaki M, Sasaki E, Nakamura M, Okano H. Efficient derivation of multipotent neural stem/progenitor cells from non-human primate embryonic stem cells. PLoS One. 2012;7:e49469.
  • Kajimura M, Nakanishi T, Takenouchi T, Morikawa T, Hishiki T, Yukutake Y, Suematsu M.
    Gas biology: Tiny molecules controlling metabolic systems. Respir Physiol Neurobiol. 2012;184:139-48.
  • Kojima K, Brown EC, Rothermel R, Carlson A, Matsuzaki N, Shah A, Atkinson M, Mittal S, Fuerst D, Sood S, Asano E. Multimodality language mapping in patients with left-hemispheric language dominance on Wada test. Clin Neurophysiol. 2012;123:1917-24.
  • Kojima K, Brown EC, Matsuzaki N, Rothermel R, Fuerst D, Shah A, Mittal S, Sood S, Asano E. Gamma activity modulated by picture and auditory naming tasks: Intracranial recording in patients with focal epilepsy. Clin Neurophysiol. 2013;124:1737-44.

    Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, Takita J, Kikuchi K, Kubota M, Yamanaka G, Shiihara T, Kumakura A, Kikuchi M, Toyoshima M, Goto T, Yamanouchi H, Mizuguchi M. ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus. Neurology. 2013;80:1571-6.
  • Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D’Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013;77:259-73.
  • Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum Mutat. 2013;34:498-505.
  • Nomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T. Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1. J Child Neurol. 2013;28:949-51.
  • Xu J, Zhu Y, Kraniotis S, He Q, Marshall JJ, Nomura T, Stauffer SR, Lindsley CW, Conn PJ, Contractor A. Potentiating mGluR5 function with a positive allosteric modulator enhances adaptive learning. Learn Mem. 2013;20:438-45.
  • Dulac O, Takahashi T. Status epilepticus. Handb Clin Neurol. 2013;111:681-9.
  • Fernández IS, Peters JM, An S, Bergin AM, Takeoka M, Rotenberg A, Kothare SV, Riviello JJ Jr, Loddenkemper T. Long-term response to high-dose diazepam treatment in continuous spikes and waves during sleep. Pediatr Neurol. 2013;49:163-170.e4.
  • Fernández IS, Peters J, Takeoka M, Rotenberg A, Prabhu S, Gregas M, Riviello JJ Jr, Kothare S, Loddenkemper T. Patients with electrical status epilepticus in sleep share similar clinical features regardless of their focal or generalized sleep potentiation of epileptiform activity. J Child Neurol. 2013;28:83-9.
  • Yoshii A, Zhao JP, Pandian S, van Zundert B, Constantine-Paton M. A Myosin Va mutant mouse with disruptions in glutamate synaptic development and mature plasticity in visual cortex. J Neurosci. 2013;33:8472-82.
  • Kojima K, Brown EC, Rothermel R, Carlson A, Fuerst D, Matsuzaki N, Shah A, Atkinson M, Basha M, Mittal S, Sood S, Asano E. Clinical significance and developmental changes of auditory-language-related gamma activity. Clin Neurophysiol. 2013;123:857-69.
  • Imataka G, Noguchi M, Tsukada K, Takahashi T, Yamanouchi H, Arisaka O. Partial epilepsy and developmental delay in infant with ring chromosome 14. Genet Couns. 2013;24:81-83.
  • Oishi Y, Watanabe Y, Shinoda S, Naka M, Ozawa Y, Matsuyama T, Morozumi K, Fuke Y. The IL6 gene polymorphism -634C>G and IL17F gene polymorphism 7488T>C influence bone mineral density in young and elderly Japanese women. Gene. 2012; 504:75-83.
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