• 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13年)

  • Meshitsuka S, Koeda T, Hara T, Takeshita K. Abnormal aluminium metabolism in two siblings with progressive CNS calcification. Dev Med Child Neurol 43:287-288:2001
  • Sugiura C, Miyata H, Oka A, Takashima S, Ohama E, Takeshita K. A Japanese girl with leukoencephalopathy with vanishing white matter. Brain Dev 23;58-61:2001
  • Seki A, Koeda T, Sugihara S, Kamba M, Hirata Y, Ogawa T, Takeshita K. A functional magnetic resonance imaging study during sentence reading in Japanese dyslexic children. Brain Dev 23;312-316:2001
  • Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S. Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet 46;260-262:2001
  • Sawamura N, Gong J-S, Garver WS, Ninomiya H, Ohno K, Yanagisawa K, Michikawa M. Site-specific phosphorylatin of tau accompamed by activatiof mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C model mice. J Biol Chem 276;10314-10319:2001
  • Higaki K, Ninomiya H, Sugimoto Y, Suzuki T, Niwa H, Pentchev PG, Vanier MT, Ohno K. Isolatiof NPC1 deficient Chinese hamster ovary cell mutants by gene trap mutagenesis. J Biochem 129;875-880:2001
  • Tominaga L, Ogawa Y, Taniguchi M, Ohno K, Matsuda J, Oshima A, Suzuki Y, Nanba E. Galactojirimycin derivatives restore mutant human -galactosidase activities expressed in fibroblasts from enzyme deficient knockout mouse. Brain Dev 23; 284-287:2001
  • Yamada A, Saji M, Ukita Y, Taniguchi M, Ninomiya H, Ohno K. Progressive neuronal loss in the ventral posterior lateral and medial nuclei of the thalamus in Niemann-Pick disease type C mouse brain. Brain Dev 23;288-297:2001
  • Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT. Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein and phetypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet 68;1373-1385:2001
  • Taniguchi M, Shinoda Y, Ninomiya H, Vanier MT, Ohno K. Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain. Brain Dev 23;414-421:2001
  • Watabe K, Ida H, Uehara K, Oyanagi K, Sakamoto T, Tanaka J, Garaver WS, Miyawaki S, Ohno K, Eto Y. Establishment and characterizatiof immortalized Schwann cells from murine model of Niemann-Pick disease type C. J Periph Nerv Syst 6;85-94:2001
  • Sugimoto Y, Ninomiya H, Ohsaki Y, Higaki K, Danies JP, Ioannou YA, Ohno K. Accumulatiof cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1 deficient cells. Prac Natl Acad Sci USA 98;12391-12396:2001.
  • Kurachi Y, Oka A, Itoh M, Mizuguchi M, Hayashi M, Takashima S. Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. Acta Neuropathol (Berl)102;20-6:2001
  • Sugiura C, Ogura K, Ueno M, Toyoshima M, Oka A. High-dose ethosuximide for epilepsy in Angelman syndrome: Implication of GABA(A) receptor subunit. Neurology 57;1518-1519:2001
  • Hogema BM, Akaboshi S, Taylor M, Salomons GS, Jakobs C, Schutgens RB, Wilcken B, Worthington S, Maropoulos G, Grompe M, Gibson KM. Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing dna, enzyme, and metabolite analyses. Mol Genet Metab 72;218-22:2001
  • Ehara H, Eda I. Schizencephaly in Triple-X syndrome. Pediatr Int 43;296-297:2001
  • Yamamoto T, Pipo JR, Akaboshi S, Narai S. Forced norrmalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy. Brain Dev 23;62-64:2001
  • Yamamoto T, Akaboshi S, Ninomiya H, Nanba E. DEFECT 11 syndrome associated with agenesis of corpus callosum. J Med Genet 38;e5:2001
  • Tsukamoto H, Yamamoto T, Nishigaki T, Sakai N, Nanba E, Ninomiya H, Ohno K, Inui K, Okada S. SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C. Prenat Diag 21;52-54: 2001
  • 難治性てんかん発作にクロバサムが有効であったSturge-Weber症候群の1例. 原田俊英、前垣義弘、石崎文子、井上健、中村重信. 診療と新薬38;519-523:2001
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