Research Topics
Genomes and Genes | Masafumi MorimotoSummaryAffiliation: Kyoto Prefectural University of Medicine Country: Japan Publications
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Publications
Ring chromosome 14 with localization-related epilepsy: three casesMasafumi Morimoto
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Epilepsia 44:1245-9. 2003..In all three cases, seizures were resistant to common antiepileptic drugs...- Infantile spasms in a patient with williams syndrome and craniosynostosisMasafumi Morimoto
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Epilepsia 44:1459-62. 2003..Thyrotropin-releasing hormone (TRH) therapy reduced his seizures and improved the findings of EEG without cardiac side effects. In addition, his psychomotor development was slightly improved... - SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancyMasafumi Morimoto
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Epilepsia 47:1732-6. 2006..To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases... - Imaging analysis of mineralocorticoid receptor and importins in single living cells by using GFP color variantsMasayuki Tanaka
Department of Anatomy and Neurobiology, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
Cell Tissue Res 320:447-53. 2005..This is the first visual evidence of the nuclear import of MR in association with importin alpha in single living cells... 
Development of corpus callosum in preterm infants is affected by the prematurity: in vivo assessment of diffusion tensor imaging at term-equivalent ageTatsuji Hasegawa
Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602 8566, Japan
Pediatr Res 69:249-54. 2011..We demonstrated that preterm infants without apparent white matter lesions affect development of the posterior CC depending on the degree of prematurity...- Fiber-tracking techniques can predict the degree of neurologic impairment for periventricular leukomalaciaAki Murakami
Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kamigyo, Kyoto 602 8566, Japan
Pediatrics 122:500-6. 2008..Such episodes can result in periventricular leukomalacia, which may substantially influence later brain development. Noninvasive methods of assessing the severity of injury at the earliest stage of life have not yet been established... - Alternative psychosis and dysgraphia accompanied by forced normalization in a girl with occipital lobe epilepsyYoshifumi Hirashima
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
Epilepsy Behav 12:481-5. 2008..It is assumed that abnormal discharges in the left occipital lobe were projected into the left posterior inferior temporal area and that a functional disorder in that area led to dysgraphia; however, further exploration is needed... - Wernicke's encephalopathy in a patient with nephrotic syndromeMasashi Nishida
Department of Pediatric Cardiology and Nephrology, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kawaramachi Hirokoji, Kamigyo ku, Kyoto, 602 8566, Japan
Eur J Pediatr 168:731-4. 2009..This case suggests the need to consider WE as a possible serious complication in patients with NS, and also emphasizes the usefulness of MRI in the diagnosis of WE, especially in pediatric cases with complex clinical symptoms... - [Recurrence of transient splenial lesions in a child with "benign convulsions with gastroenteritis"]Shigemi Morioka
Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto
No To Hattatsu 42:449-53. 2010..Diffusion-weighted magnetic resonance imaging of the brain demonstrated hyperintense lesions in the splenium of the corpus callosum, which disappeared within a week. We speculate that CwG is likely to lead to transient splenial lesions... - Effects of stress of postnatal development on corticosterone, serotonin and behavioral changesFumihiro Matsui
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kamigyo ku, Kyoto 602 8566, Japan
Brain Dev 32:517-23. 2010..Stress during the PND 11-15 period may enhance later anxiety-related behaviors without altering 5-HT and 5-HIAA content... - Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infectionAki Murakami
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kawaramachi Horikoji, Kamigyo, Kyoto 602 8566, Japan
Brain Dev 27:527-30. 2005..In addition, the serum HHV-6 IgM class antibody level was significantly increased. The patient is thought to be the first case of HHV-6 infection related infantile bilateral striatal necrosis (IBSN)... - Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapyTomohiro Chiyonobu
Department of Pediatrics, Akashi Municipal Hospital, 1 33 Takasho machi, Akashi, Hyogo 673 8501, Japan
Brain Dev 30:430-3. 2008..Careful clinical observation including gastrointestinal symptoms is required in the management of epilepsy in MELAS patients... - Effects of edaravone on N-methyl-D-aspartate (NMDA)-mediated cytochrome c release and apoptosis in neonatal rat cerebrocortical slicesYumi Nakano-Okuda
Department of Pediatrics, Kyoto Prefectural University of Medicine, Japan
Int J Dev Neurosci 24:349-56. 2006..2+/-2.1%). Edaravone's reduction in TUNEL staining and cytochrome c release provides evidence of reactive oxygen species mechanisms and antioxidant benefits in cytochrome c-mediated apoptosis during N-methyl-D-aspartate excitotoxicity... - T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptakeTatsuya Fujii
Department of Pediatrics, Shiga Medical Center for Children, 5 7 30 Moriyama, Shiga, Japan
Brain Dev 33:316-20. 2011..We compared the phenotype of three T295M-associated patients with that of other Glut1-deficient patients... - Yellow fluorescent protein-tagged and cyan fluorescent protein-tagged imaging analysis of glucocorticoid receptor and importins in single living cellsMasayuki Tanaka
Department of Anatomy and Neurobiology, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kamigyo ku, Kyoto 602 8566, Japan
Endocrinology 144:4070-9. 2003..However, direct interaction between GR and importin-beta was not detected. These studies showed visual evidence of the nuclear importing of GR in association with importin-alpha in single living cells... - Macrophage-derived matrix metalloproteinase-2 and -9 promote the progression of cerebral aneurysms in ratsTomohiro Aoki
Kyoto University, Graduate School of Medicine, 54 Kawaharacho, Shogoin, Sakyo ku, Kyoto, Japan
Stroke 38:162-9. 2007..Matrix metalloproteinases (MMPs) are a family of proteinases which are involved in the remodeling of vascular walls. In the present study, we investigated the significance of MMPs in the progression of cerebral aneurysms... - Mouse model of cerebral aneurysm: experimental induction by renal hypertension and local hemodynamic changesMasafumi Morimoto
Departments of Neurosurgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Stroke 33:1911-5. 2002..CONCLUSIONS: This mouse model of CA will be useful for studying the effects of complex determinants on CA formation and makes it possible to understand the pathogenesis of CA at the molecular level... 
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall
Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
Am J Hum Genet 83:106-11. 2008..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...