OPA1 mutations and clinical phenotype in Japanese patients with dominant optic atrophy

被引:0
|
作者
Hewitt, AW
Fitzgerald, LM
McKay, J
Mulhall, L
Mackey, DA
机构
[1] Nagoya Univ, Sch Med, Nagoya, 43131, Japan
[2] Hamamatsu Univ Sch Med, Hamamatsu, Shizuoka, Japan
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2460
引用
收藏
页码:U943 / U943
页数:1
相关论文
共 50 条
  • [41] Identification of a novel OPA1 mutation in a large family with a severe dominant optic atrophy phenotype
    Fingert, JH
    Affatigato, LM
    Secrist, JL
    Shankar, SP
    Sheffield, VC
    Stone, EM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U570 - U570
  • [42] Reply: Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation
    Yu-Wai-Man, Patrick
    Chinnery, Patrick F.
    BRAIN, 2011, 134
  • [43] Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations
    Liao, C.
    Ashley, N.
    Morten, K.
    Phadwal, K.
    Williams, A.
    Fearnley, I.
    Rosser, L.
    Lowndes, J.
    Fratter, C.
    Ferguson, D.
    Vay, L.
    Quaghebeur, G.
    Macleod, L.
    Gabriel, A.
    Downes, S.
    Simon, K.
    Votruba, M.
    Poulton, J.
    NEUROMUSCULAR DISORDERS, 2012, 22 : S3 - S3
  • [44] NONSYNDROMIC PARKINSON DISEASE IN A FAMILY WITH AUTOSOMAL DOMINANT OPTIC ATROPHY DUE TO OPA1 MUTATIONS
    Lynch, David S.
    Loh, Samantha H. Y.
    Harley, Jasmine
    Noyce, Alastair J.
    Martins, L. Miguel
    Wood, Nicholas W.
    Houlden, Henry
    Plun-Favreau, Helene
    NEUROLOGY-GENETICS, 2017, 3 (05)
  • [45] OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy
    Yu-Wai-Man, Patrick
    Trenell, Michael I.
    Hollingsworth, Kieren G.
    Griffiths, Philip G.
    Chinnery, Patrick F.
    BRAIN, 2011, 134
  • [46] Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations
    P Yu-Wai-Man
    M Bailie
    A Atawan
    P F Chinnery
    P G Griffiths
    Eye, 2011, 25 : 596 - 602
  • [47] Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations
    Yu-Wai-Man, P.
    Bailie, M.
    Atawan, A.
    Chinnery, P. F.
    Griffiths, P. G.
    EYE, 2011, 25 (05) : 597 - 601
  • [48] OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
    Zanna, Claudia
    Ghelli, Anna
    Porcelli, Anna Maria
    Karbowski, Mariusz
    Youle, Richard J.
    Schimpf, Simone
    Wissinger, Bernd
    Pinti, Marcello
    Cossarizza, Andrea
    Vidoni, Sara
    Valentino, Maria Lucia
    Rugolo, Michela
    Carelli, Valerio
    BRAIN, 2008, 131 : 352 - 367
  • [49] Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations
    Miyata, Kentaro
    Nakamura, Makoto
    Kondo, Mineo
    Lin, Jian
    Ueno, Shinji
    Miyake, Yozo
    Terasaki, Hiroko
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (02) : 820 - 824
  • [50] Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy
    Li, Yang
    Deng, Ting
    Tong, Yi
    Peng, Shuling
    Dong, Bing
    He, Dacheng
    MOLECULAR VISION, 2008, 14 (282): : 2451 - 2457