AAAAAA

   
Results: 1-15 |
Results: 15
Optic neuropathy and cerebellar ataxia associated with a rare missense variation (A14510G) of mitochondrial DNA
Authors: Isashiki, Y Ohba, N Nakagawa, M Izumo, S
Citation: Y. Isashiki et al., Optic neuropathy and cerebellar ataxia associated with a rare missense variation (A14510G) of mitochondrial DNA, BR J OPHTH, 85(8), 2001, pp. 1009-1010
Hereditary motor and sensory neuropathy associated with juvenile glaucoma
Authors: Unoki, K Sakamoto, Y Ohba, N Kiwaki, T Umehara, F Isashiki, Y Nakagawa, M Osame, M
Citation: K. Unoki et al., Hereditary motor and sensory neuropathy associated with juvenile glaucoma, ARCH OPHTH, 119(10), 2001, pp. 1547-1550
Retinopathy associated with Machado-Joseph disease (spinocerebellar ataxia3) with CAG trinucleotide repeat expansion
Authors: Isashiki, Y Kii, Y Ohba, N Nakagawa, M
Citation: Y. Isashiki et al., Retinopathy associated with Machado-Joseph disease (spinocerebellar ataxia3) with CAG trinucleotide repeat expansion, AM J OPHTH, 131(6), 2001, pp. 808-810
Cytochrome P4501B1 gene mutations Japanese patients with primary congenital glaucoma
Authors: Kakiuchi-Matsumoto, T Isashiki, Y Ohba, N Kimura, K Sonoda, S Unoki, K
Citation: T. Kakiuchi-matsumoto et al., Cytochrome P4501B1 gene mutations Japanese patients with primary congenital glaucoma, AM J OPHTH, 131(3), 2001, pp. 345-350
Machado-Joseph disease with retinal degeneration and dementia
Authors: Ikeda, K Kubota, S Isashiki, Y Eiraku, N Osame, M Nakagawa, M
Citation: K. Ikeda et al., Machado-Joseph disease with retinal degeneration and dementia, ACT NEUR SC, 104(6), 2001, pp. 402-405
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia
Authors: Sonoda, S Isashiki, Y Tabata, Y Kimura, K Kakiuchi, T Ohba, N
Citation: S. Sonoda et al., A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia, GR ARCH CL, 238(7), 2000, pp. 552-558
Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy
Authors: Feng, XM Pu, W Gao, DW Isashiki, Y Ohba, N
Citation: Xm. Feng et al., Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy, CHIN MED J, 113(8), 2000, pp. 743-746
Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration
Authors: Kimura, K Isashiki, Y Sonoda, S Kakiuchi-Matsumoto, T Ohba, N
Citation: K. Kimura et al., Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration, AM J OPHTH, 130(6), 2000, pp. 769-773
Histopathological analysis of four autopsy cases of HTLV-I-associated myelopathy/tropical spastic paraparesis: inflammatory changes occur simultaneously in the entire central nervous system
Authors: Aye, MM Matsuoka, E Moritoyo, T Umehara, F Suehara, M Hokezu, Y Yamanaka, H Isashiki, Y Osame, M Izumo, S
Citation: Mm. Aye et al., Histopathological analysis of four autopsy cases of HTLV-I-associated myelopathy/tropical spastic paraparesis: inflammatory changes occur simultaneously in the entire central nervous system, ACT NEUROP, 100(3), 2000, pp. 245-252
Molecular pathologic analysis of the tonsil in HTLV-I-infected individuals
Authors: Takenouchi, N Matsuoka, E Moritoyo, T Nagai, M Katsuta, K Hasui, K Ueno, K Eizuru, Y Usuku, K Osame, M Isashiki, Y Izumo, S
Citation: N. Takenouchi et al., Molecular pathologic analysis of the tonsil in HTLV-I-infected individuals, J ACQ IMM D, 22(2), 1999, pp. 200-207
REP-1 gene mutations in Japanese patients with choroideremia
Authors: Fujiki, K Hotta, Y Hayakawa, M Saito, A Mashima, Y Mori, M Yoshii, M Murakami, A Matsumoto, M Hayasaka, S Tagami, N Isashiki, Y Ohba, N Kanai, A
Citation: K. Fujiki et al., REP-1 gene mutations in Japanese patients with choroideremia, GR ARCH CL, 237(9), 1999, pp. 735-740
Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts
Authors: Yamada, K Oguchi, Y Hotta, Y Nakamura, M Isashiki, Y Mashima, Y
Citation: K. Yamada et al., Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts, NEURO-OPHTH, 22(3), 1999, pp. 187-193
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features
Authors: Isashiki, Y Tabata, Y Kamimura, K Ohba, N
Citation: Y. Isashiki et al., Sorsby's fundus dystrophy in two Japanese families with unusual clinical features, JPN J OPHTH, 43(6), 1999, pp. 472-480
Retinitis pigmentosa with visual fluctuations and arrestin gene mutation
Authors: Isashiki, Y Ohba, N Kimura, K Sonoda, S Kakiuchi, T Ozawa, T
Citation: Y. Isashiki et al., Retinitis pigmentosa with visual fluctuations and arrestin gene mutation, BR J OPHTH, 83(10), 1999, pp. 1197-1198
A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primaryinfantile glaucoma
Authors: Kakiuchi, T Isashiki, Y Nakao, K Sonoda, S Kimura, K Ohba, N
Citation: T. Kakiuchi et al., A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primaryinfantile glaucoma, AM J OPHTH, 128(3), 1999, pp. 370-372
Risultati: 1-15 |