A novel mutation of PDE8B gene in a Japanese family of autosomal-dominant striatal degeneration

被引：0
|
作者：
Hirata, Kosei
机构：
来源：
MOVEMENT DISORDERS | 2014年 / 29卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
36
引用
收藏
页码：S26 / S26
页数：1
相关论文
共 50 条
  • [1] A Novel Mutation of PDE8B Gene in a Japanese Family With Autosomal-Dominant Striatal Degeneration
    Azuma, Reo
    Ishikawa, Kinya
    Hirata, Kosei
    Hashimoto, Yuji
    Takahashi, Makoto
    Ishii, Kenji
    Inaba, Akira
    Yokota, Takanori
    Orimo, Satoshi
    MOVEMENT DISORDERS, 2015, 30 (14) : 1964 - 1967
  • [2] A Novel PDE8B Gene Variant Associated with Autosomal Dominant Striatal Degeneration
    Chunga, Natalia
    Minks, Kelly
    Sell, David L.
    Shah, Nami
    Corcoran, Jennifer
    Barbano, Richard L.
    Schneider, Ruth B.
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2024, 11 (08): : 1044 - 1046
  • [3] Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders
    Ni, Jie
    Yi, Xiaoping
    Liu, Zhen
    Sun, Weining
    Yuan, Yanchun
    Yang, Jie
    Jiang, Hong
    Shen, Lu
    Tang, Beisha
    Liu, Yunhai
    Wang, Junling
    PARKINSONISM & RELATED DISORDERS, 2019, 69 : 94 - 98
  • [4] Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene
    Appenzeller, Silke
    Schirmacher, Anja
    Halfter, Hartmut
    Baeumer, Sebastian
    Pendziwiat, Manuela
    Timmerman, Vincent
    De Jonghe, Peter
    Fekete, Klara
    Stoegbauer, Florian
    Luedemann, Peter
    Hund, Margret
    Quabius, Elgar Susanne
    Ringelstein, E. Bernd
    Kuhlenbaeumer, Gregor
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (01) : 83 - 87
  • [5] Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta
    Janeth Gutierrez, Sandra
    Chaves, Margarita
    Torres, Diana M.
    Briceno, Ignacio
    ARCHIVES OF ORAL BIOLOGY, 2007, 52 (05) : 503 - 506
  • [6] A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
    Lv, Huibin
    Huang, Chen
    Zhang, Jing
    Liu, Ziyuan
    Zhang, Zhike
    Xu, Haining
    You, Yuchen
    Hu, Jinping
    Li, Xuemin
    Wang, Wei
    G3-GENES GENOMES GENETICS, 2014, 4 (05): : 823 - 828
  • [7] A NOVEL CYS-214-SER MUTATION IN THE PERIPHERIN RDS GENE IN A JAPANESE FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
    SAGA, M
    MASHIMA, Y
    AKEO, K
    OGUCHI, Y
    KUDOH, J
    SHIMIZU, N
    HUMAN GENETICS, 1993, 92 (05) : 519 - 521
  • [8] Novel MIP gene mutation causes autosomal-dominant congenital cataract
    Ni, Jing-Lan
    Wen, Hua-Ming
    Huang, Xiao-Sheng
    Li, Qian-Wen
    Cai, Jia-Min
    Fan, Bao-Jian
    Zhao, Jun
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2024, 17 (03) : 454 - 465
  • [9] Tremor without parkinsonism: A new phenotype of autosomal-dominant striatal degeneration
    Sun, Yi-Min
    Li, Hai-Qing
    Zhang, Yue
    PARKINSONISM & RELATED DISORDERS, 2021, 87 : 122 - 123
  • [10] MAPPING THE GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT CONE DEGENERATION
    SYRQUIN, MG
    GEHRS, K
    SMALL, KW
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1995, 36 (04) : S1065 - S1065
12345