| ミトコンドリア病関係 |
|
1)Sugimoto J, Shimohira M, Ozawa Y, Matsubara M, Yamamoto H,Goto Y,Nonaka I: A patient with8 mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency. Brain & Development 22:158-162, 2000 |
|
2) Nagashima T, Kato H, Kase M, Maguchi S, Mizutani Y, Matsuda K, Chuma T, Mano Y,Goto Y, Minami N, Nonaka I, Nagashima K : Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG) in PABP2 gene. Neuromuscul Disord10: 173-177, 2000 |
| 3) Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M,Goto Y, Hata J, Matsuo N, Smith J R, Kosaki K: Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am. J. Hum. Genet. 67: 476-482, 2000 |
| 4) Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, Katayama Y: Psychosis and progressing features of mitochondriopathy. Neurology 55 (2 of 2) : 600-601, 2000 |
| 5) Inoue K, Nakada K, Ogura A, Isobe I, Goto Y, Nonaka I, Hayashi J-I: Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nature Genet 26:176-181, 2000 |
| 6) Ishikawa Y, Goto Y, Ishikawa Y, Minami R: Progression in a case of Kearns-Sayre syndrome. J Child Neurol 15:750-755,2000 |
| 7) 大矢 寧,瀬川昌巳,小川雅文,後藤雄一,埜中征哉,川井 充: ミトコンドリア異常をともなった先天性ネマリンミオパチーの1成人例. 臨床神経学40 : 452-458, 2000 |
| 8) 井上雄吉,後藤雄一: 網膜色素変性症を伴いミトコンドリアDNA T8993C変異を認めたミトコンドリア脳筋症. 神経眼科 17 (3) : 306-314, 2000 |
| 20) Muraki K, Sakura N, Ueda H, Kihara H, Goto Y: Clinical implications of duplicated mtDNA in Pearson syndrome. Am J Med Genet 98:205-209, 2001 |
| 21) Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y: Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J Hum Genet 45:337-341, 2000 |
| 脳発達障害関係 |
| 1) Qin J, Mizuguchi M, Itoh M, Takashima S: A novel migration-related gene product, doublecortin, in neuronal migration disorder of fetuses and infants with Zellweger syndrome. Acta Neuropathol (Berl) 100:168-173,2000 |
| 2) Inage YW, Itoh M, Wada K, Hoshika A, Takashima S: Glutamate transporters in neonatal cerebellar subarachnoid hemorrhage. Pediatr Neurol23:42-48,2000 |
| 3) Tanaka F, Ozawa Y, Inage Y, Deguchi K, Itoh M, Imai Y, Kohsaka S, Takashima S: Association of osteopontin with ischemic axonal death in periventricular leukomalacia. Acta Neuropathol (Berl) 100:69-74,2000 |
| 4) Ohyu J, Endo A, Itoh M, Takashima S: Hypocapnia under hypotension induces apoptotic neuronal cell death in the hippocampus of newborn rabbits. Pediatr Res 48:24-29,2000 |
|
5) Meng SZ, Itoh M, Obonai T, Takashima S: |
| 6) Qin J, Mizuguchi M, Itoh M, Takashima S: Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders. Brain Res 863:225-232,2000 |
| 7) Meng SZ, Ohyu J, Itoh M, Takashima S: Dopamine transporter and nitric oxide synthase in hypoxic- ischemic brain. Pediatr Neurol 22:115-121,2000 |
| 8) Inage YW, Itoh M, Takashima S: Correlation between cerebrovascular maturity and periventricular leukomalacia. Pediatr Neurol. 22:204-208,2000 |
| 9) Itoh M, Suzuki Y, Akaboshi S, Zhang Z, Miyabara S, Takashima S: Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellwegersyndrome. Brain Res 858:40-47,2000 |
| 10) Endo A, Motonaga K, Arahata K, Harada K, Yamada T, Takashima S: Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. Acta Neuropathol (Berl)100:513-520,2000 |
| 11) Saito Y, Oka A, Mizuguchi M, Motonaga K, Mori Y, Becker LE, Arima K, Miyauchi J, Takashima S: The developmental and aging changes of Down's syndrome cell adhesion molecule expression in normal and Down's syndrome brains. Acta Neuropathol 100: 654-664, 2000 |
| 12) Kurachi Y, Oka A, Mizuguchi M, Ohkoshi Y, Sasaki M, Itoh M, Hayashi M, Goto Y, Takashima S: Rapid immunologic diagnosis of classic late infantile neuronal ceroid lipofuscinosis. Neurology 54:1676-1680,2000 |
| 13) Kaga M, Shindo M, Kaga K: Long-term follow-up of auditory agnosia as a sequele of herpes encephalitis in achild. J Child Neurol 15:626-629,2000 |
| 14) 武井章人,高嶋幸男,伊藤雅之,後藤雄一,高見 剛,宮島 祐,星加明徳: 新生児脳障害モデルにおける低体温療法時と復温時の脳組織酸素モニター. Thera. Res 21: 85-89, 2000 |
| 15) 武井章人,高嶋幸男,大湯淳功,高見 剛,宮島 祐,星加明徳: 新生仔けいれんモデルにおける低体温療法の神経保護作用機序〜脳血流と脳酸素化状態からの検討〜. 新生児誌36:606-613,2000 |
| 16) Kohyama J, Hasegawa T, Shimohira M, Fukumizu M, Iwakawa Y: Rapid eye movement sleep in breath holders. J Child Neurol 15:449-452,2000 |
| 17) 小川達也,須貝研司,佐々木征行,花岡繁,福水道郎,橋本俊顕: 重症心身障害児・者における嚥下機能と眼輪筋反射、MRI. 脳と発達 32:497-501,2000 |
| 18) Hashimoto T, Sasaki M, Fukumizu M, Hanaoka S, Sugai K, Matsuda H: Single-photon emission computed tomography of the brain in autism: effect of the developmental level. Pediatr Neurol 23:416-420,2000 |
| 19) 須藤章,福水道郎,須貝研司,松本浩,長澤哲郎,小牧宏文,花岡繁,佐々木征行,高嶋幸男,林田哲郎: 口蓋垂軟口蓋咽頭形成術, 扁桃摘出術で睡眠時閉塞性無呼吸が改善したDuchenne型筋ジストロフィーの10歳男児例. 脳と発達 32: 352-357, 2000 |