• 研究・業績紹介
  • 脳神経小児科の研究・業績を紹介いたします。

研究業績(平成15年)

  • Matsuzawa F, Aikawa S.I, Sakuraba H, Tanaka A, Ohno K, Ninomiya H, Sugimoto Y and Doi H. Structural basis of GM2 gangliosidosis B variant. J Hum Genet 2003;48(11):582-9
  • Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Roscoe O. Brady, Suzuki Y. Chemical Chaperone Therapy for Brain Pathology in GM1-Gangliosidosis. Proc Natl Acad Sci USA, 2003;100(26):15912-7
  • Ogura K, Maegaki Y, Morino S, Ogawa T, Ohno K, Oka A. Vertebral artery dissection in an infant: Ultrastructural averrations in connective tissue components. Neuropediatrics 2003;34:307-310
  • Iwakuma M, Anzai T, Kobayashi S, Ogata M, Kaneda Y, Ohno K, and Saji M. Antisense in vivo knockdown of synaptotagmin I and synapsin I by HVJ-liposome mediated gene transfer modulates ischemic injury of hippocampus in opposing ways . Neurosci Res 2003;45:285-296
  • Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K.Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. Brain Dev. 2003;25(7):525-8.
  • Hirayama A, Oka A, Ito Masayuki, Tanak F, Ohkoshi Y, and Takashima S: Myelin transcription factor 1(Myt1) immunoreactivity in infants with periventricular leukomalacia. Dev Brain Res 2003:140;85-92
  • Nakada C, Tsukamoto Y, Oka A, Nonaka I, Takeda I, Sato K, Mori S, Ito H, Moriyama M. Cardiac-restrcted ankyrin-repeated protein is differentially induced in Duchenne and congenital muscular dystrophy. Lab Invest 2003:83;711-719
  • Shiroma N, Kanazawa N, Kato Z, Shimozawa N, Imamura A, Ito M, Ohtani K, Oka A, Wakabayashi K, Iai M, Sugai K, Sasaki M, Kaga M, Ohta T, Tsujino S. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev 2003:25;116-121
  • Nakada C, Oka A, Nonaka I, Sato K, Mori S, Ito H, Moriyama M. Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy. Pathol Int. 2003:53;653-658.
  • Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 2003;22(6):442-50.
  • Tomita Y, Fukuda C, Maegaki Y, Hanaki K, Kitagawa K, Sanpei M. Re-evaluation of short latency somatosensory evoked potentials (P13, P14, and N18) for brainstem function in children who once suffered from deep coma. Brain Dev 2003;25:352-356.
  • Fukuda C, Tomita Y, Maegaki Y, Kubota N. Fronrtal N30 of median nerve SSEPs for evaluation of movement disorders with destructive basal ganglia deficits. Neuropediatrics 2003;34:205-210.
  • Makoto Ueno, Akira Oka, Riina Okamoto, Kenzo Takeshita. Unilateral occlusion of the middle cerebral artery after varicella-zoster viru s infection. Neurology Review Series, vol. 2.Stockholm: Helix Communications 2003, 10-11
  • Ehara H, Maegaki Y, Takeshita K. Pachygyria and polymicrogyria in 22q11 deletion syndrome. Am J Med Genet 2003;117A:80-82.
  • 杉浦千登勢、汐田まどか、家島厚、大野耕策。脳性麻痺児(者)におけるてんかん発症と予後に関する検討。 脳と発達 2003;35:478-483
  • 上野 誠,岡 明,赤星 進二郎,大野 耕策。得意な光過敏性を示したTurner症候群の幼児例。脳と発達 2003;35:249-252
  • 上野 誠、大野耕策。Niemann-Pick 病C 型での JAK/STATシグナル伝達系の恒常的活性化。米子医学雑誌 2003;54:17-32
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