Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies

被引：4
|
作者：
Shearman, J. R. [1 ,2 ]
Lau, V. M. [1 ,2 ]
Wilton, A. N. [1 ,2 ]
机构：
[1] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia
[2] Univ New S Wales, Clive & Vera Ramaciotti Ctr Gene Funct Anal, Sydney, NSW 2052, Australia
来源：
ANIMAL GENETICS | 2008年 / 39卷 / 05期
关键词：
D O I：
10.1111/j.1365-2052.2008.01753.x
中图分类号：
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号：
0905 ;
摘要：
[No abstract available]
引用
收藏
页码：573 / 573
页数：1
相关论文
共 23 条
  • [1] Mapping cerebellar abiotrophy in Australian Kelpies
    Shearman, J. R.
    Cook, R. W.
    McCowan, C.
    Fletcher, J. L.
    Taylor, R. M.
    Wilton, A. N.
    [J]. ANIMAL GENETICS, 2011, 42 (06) : 675 - 678
  • [2] Rare Genetic Variations in SACS, SYNE1, LMNB1, TRPC3, or SETX Are Not a Significant Cause of Sporadic Cerebellar Ataxia
    Fogel, Brent L.
    Lee, Ji Yong
    Becker, Esther B. E.
    Lane, Jessica
    Klein, Eric
    Mamah, Catherine
    Perlman, Susan
    Geschwind, Daniel
    Coppola, Giovanni
    [J]. NEUROLOGY, 2011, 76 (09) : A351 - A351
  • [3] Cerebellar Abiotrophy in Australian Working Kelpies Is Associated with Two Major Risk Loci
    Wade, Claire M.
    Pan, Annie Y. H.
    Taylor, Rosanne M.
    Williamson, Peter
    [J]. GENES, 2022, 13 (10)
  • [4] SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
    Noreau, Anne
    Bourassa, Cynthia V.
    Szuto, Anna
    Levert, Annie
    Dobrzeniecka, Sylvia
    Gauthier, Julie
    Forlani, Sylvie
    Durr, Alexandra
    Anheim, Mathieu
    Stevanin, Giovanni
    Brice, Alexis
    Bouchard, Jean-Pierre
    Dion, Patrick A.
    Dupre, Nicolas
    Rouleau, Guy A.
    [J]. JAMA NEUROLOGY, 2013, 70 (10) : 1296 - 1301
  • [5] Cerebellar Ataxia with SYNE1 Mutation Accompanying Motor Neuron Disease
    Izumi, Yuishin
    Miyamoto, Ryosuke
    Morino, Hiroyuki
    Yoshizawa, Akio
    Nishinaka, Kazuto
    Udaka, Fukashi
    Kameyama, Masakuni
    Maruyama, Hirofumi
    Kawakami, Hideshi
    [J]. NEUROLOGY, 2013, 80
  • [6] CEREBELLAR ATAXIA WITH SYNE1 MUTATION ACCOMPANYING MOTOR NEURON DISEASE
    Izumi, Yuishin
    Miyamoto, Ryosuke
    Morino, Hiroyuki
    Yoshizawa, Akio
    Nishinaka, Kazuto
    Udaka, Fukashi
    Kameyama, Masakuni
    Maruyama, Hirofumi
    Kawakami, Hideshi
    [J]. NEUROLOGY, 2013, 80 (06) : 600 - 601
  • [7] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    François Gros-Louis
    Nicolas Dupré
    Patrick Dion
    Michael A Fox
    Sandra Laurent
    Steve Verreault
    Joshua R Sanes
    Jean-Pierre Bouchard
    Guy A Rouleau
    [J]. Nature Genetics, 2007, 39 : 80 - 85
  • [8] SYNE1 cerebellar ataxia "plus" syndrome: characterizing the skeletal muscle and cardiopulmonary phenotype
    Saade, D.
    Drakou, E.
    Donkervoort, S.
    Monteleone, B.
    Brasington, C.
    Wiggs, E.
    LehIcy, T.
    Foley, A.
    Bonnemann, C.
    [J]. NEUROMUSCULAR DISORDERS, 2019, 29 : S138 - S138
  • [9] Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
    Gros-Louis, Francois
    Dupre, Nicolas
    Dion, Patrick
    Fox, Michael A.
    Laurent, Sandra
    Verreault, Steve
    Sanes, Joshua R.
    Bouchard, Jean-Pierre
    Rouleau, Guy A.
    [J]. NATURE GENETICS, 2007, 39 (01) : 80 - 85
  • [10] SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey
    Yucesan, E.
    Iseri, Sibel A. Ugur
    Bilgic, B.
    Gormez, Z.
    Gungor, B. Bakir
    Sarac, A.
    Ozdemir, O.
    Sagiroglu, M.
    Gurvit, H.
    Hanagasi, H.
    Ozbek, U.
    [J]. NEUROLOGICAL SCIENCES, 2017, 38 (12) : 2203 - 2207
123