OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

被引：0
|
作者：
Tetsuya Hamahata
Takuro Fujimaki
Keiko Fujiki
Ai Miyazaki
Atsushi Mizota
Akira Murakami
机构：
[1] Juntendo University School of Medicine,Department of Ophthalmology
[2] Teikyo University School of Medicine,Department of Ophthalmology
来源：
Japanese Journal of Ophthalmology | 2012年 / 56卷
关键词：
Autosomal dominant optic atrophy; Mitochondria; Mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：91 / 97
页数：6
相关论文
共 50 条
  • [31] OPA1 MUTATIONS INDUCE mtDNA PROLIFERATION IN LEUKOCYTES OF PATIENTS WITH DOMINANT OPTIC ATROPHY
    Sitarz, Kamil S.
    Almind, Gitte J.
    Horvath, Rita
    Czermin, Birgit
    Gronskov, Karen
    Pyle, Angela
    Taylor, Robert W.
    Larsen, Michael
    Chinnery, Patrick F.
    Yu-Wai-Man, Patrick
    NEUROLOGY, 2012, 79 (14) : 1515 - 1517
  • [32] White matter microstructure abnormalities in patients with dominant optic atrophy and OPA1 mutations
    Messina, R.
    Rocca, M. A.
    Bianchi-Marzoli, S.
    Milesi, J.
    Cascavilla, M. L.
    Petrolini, M.
    Falini, A.
    Comi, G.
    Filippi, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 73 - 73
  • [33] Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy
    Qin, Minghui
    Kondo, Hiroyuki
    Uno, Hideaki
    Fujiwara, Eriko
    Uchio, Eiichi
    Tahira, Tomoko
    Hayashi, Kenshi
    MOLECULAR VISION, 2006, 12 (56-58): : 485 - 491
  • [34] First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation
    Kamakari, Smaragda
    Koutsodontis, George
    Tsilimbaris, Miltiadis
    Fitsios, Athanasios
    Chrousos, Georgia
    MOLECULAR VISION, 2014, 20 : 691 - 703
  • [35] Different OPA1 mutations result in a deficit of in vivo mitochondrial ATP production in patients with autosomal dominant optic atrophy (ADO)
    Lodi, R
    Tonon, C
    Manners, D
    Malucelli, E
    Testa, C
    Valentino, LM
    Barboni, P
    Schaich, S
    Schimpf, S
    Wissinger, B
    Barbiroli, B
    Carelli, V
    NEUROLOGY, 2006, 66 (05) : A13 - A13
  • [36] Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opal gene
    Formichi, Patrizia
    Radi, Elena
    Giorgi, Eleonora
    Gallus, Gian Nicola
    Brunetti, Jlenia
    Battisti, Carla
    Rufa, Alessandra
    Dotti, Maria Teresa
    Franceschini, Rossella
    Bracci, Luisa
    Federico, Antonio
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 351 (1-2) : 99 - 108
  • [37] Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
    Kelifova, S.
    Honzik, T.
    Tesarova, M.
    Kousal, B.
    Liskova, P.
    Havrankova, P.
    Kolarova, H.
    CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE, 2020, 83 (01) : 33 - 42
  • [38] The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations
    Yu-Wai-Man, Patrick
    Griffiths, Philip G.
    Burke, Ailbhe
    Sellar, Peter W.
    Clarke, Michael P.
    Gnanaraj, Lawrence
    Ah-Kine, Desiree
    Hudson, Gavin
    Czermin, Birgit
    Taylor, Robert W.
    Horvath, Rita
    Chinnery, Patrick F.
    OPHTHALMOLOGY, 2010, 117 (08) : 1538 - 1546
  • [39] White and Gray Matter Damage Extends beyond the Visual Pathways in Patients with Autosomal Dominant Optic Atrophy and OPA1 Mutations
    Messina, Roberta
    Rocca, Maria
    Marzoli, Stefania Bianchi
    Milesi, Iacopo
    Petrolini, Melissa
    Falini, Andrea
    Comi, Giancarlo
    Filippi, Massimo
    NEUROLOGY, 2012, 78
  • [40] Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates
    Yu-Wai-Man, Patrick
    Chinnery, Patrick F.
    OPHTHALMOLOGY, 2013, 120 (08) : 1712 - +
12345