CALPAINS CONTRIBUTE TO THE MOLECULAR PATHOGENESIS OF SPINOCEREBELLAR ATAXIA TYPE 17

被引：0
|
作者：
Weber, Jonasz Jeremiasz [1 ,2 ]
Anger, Stefanie Cari [2 ]
Sena, Priscila Pereira [2 ,3 ]
Eltemur, Rana Dilara Incebacak [1 ,2 ]
Huridou, Chrisovalantou [1 ,2 ]
Fath, Florian [1 ,2 ]
Gross, Caspar [2 ,4 ]
Casadei, Nicolas [2 ,4 ]
Riess, Olaf [2 ,4 ]
Nguyen, Huu Phuc [1 ]
机构：
[1] Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany
[2] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
[3] Univ Tubingen, Grad Sch Cellular Neurosci, Tubingen, Germany
[4] NGS Competence Ctr Tubingen, Tubingen, Germany
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2022年 / 93卷
关键词：
D O I：
10.1136/jnnp-2022-ehdn
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A35
引用
收藏
页码：A12 / A13
页数：2
相关论文
共 50 条
  • [41] Features of spinocerebellar ataxia type 17 in Yakutia (Clinical observation)
    Varlamova, M. A.
    Davydova, T. K.
    Nazarova, P. S.
    Zakharova, V. A.
    Sidorova, O. G.
    YAKUT MEDICAL JOURNAL, 2020, (04): : 125 - 130
  • [42] Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2
    Egorova, Polina A.
    Bezprozvanny, Ilya B.
    NEUROTHERAPEUTICS, 2019, 16 (04) : 1050 - 1073
  • [43] Excessive brain iron accumulation in spinocerebellar ataxia type 17
    Claassen, Jens
    Gerding, Wanda Maria
    Kastrup, Oliver
    Uslar, Ellen
    Goericke, Sophia
    Timmann, Dagmar
    NEUROLOGY, 2015, 84 (02) : 212 - 213
  • [44] Progressive Myoclonic Epilepsy As A Presentation Of Spinocerebellar Ataxia Type 17
    Boongird, A.
    Siri-Archawawat, D.
    Ponglikitmongkol, K.
    Rungjang, K.
    Termsarasab, P.
    Pulkes, T.
    EPILEPSIA, 2019, 60 : 91 - 91
  • [45] Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2
    Polina A. Egorova
    Ilya B. Bezprozvanny
    Neurotherapeutics, 2019, 16 : 1050 - 1073
  • [46] Clinical and molecular features of spinocerebellar ataxia type 6
    Stevanin, G
    Durr, A
    David, G
    Didierjean, O
    Cancel, G
    Rivaud, S
    Tourbah, A
    Warter, JM
    Agid, Y
    Brice, A
    NEUROLOGY, 1997, 49 (05) : 1243 - 1246
  • [47] Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)
    Huebner, J.
    Sprenger, A.
    Klein, C.
    Hagenah, J.
    Rambold, H.
    Zuehlke, C.
    Koempf, D.
    Rolfs, A.
    Kimmig, H.
    Helmchen, C.
    NEUROLOGY, 2007, 69 (11) : 1160 - 1168
  • [48] Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy
    Watson, L. M.
    Smith, D. C.
    Scholefield, J.
    Ballo, R.
    Kidson, S.
    Greenberg, L. J.
    Wood, M. J. A.
    SAMJ SOUTH AFRICAN MEDICAL JOURNAL, 2016, 106 (06): : S107 - S109
  • [49] An insight into advances in the pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3
    Wu, Yan
    Peng, Ying
    Wang, Yidong
    REVIEWS IN THE NEUROSCIENCES, 2015, 26 (01) : 95 - 104
  • [50] Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner
    Kim, Joo Hyun
    Lukowicz, Abigail
    Qu, Wenhui
    Johnson, Andrea
    Cvetanovic, Marija
    GLIA, 2018, 66 (09) : 1972 - 1987
12345