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
  • [31] Role of the polyglutamine expansion in the pathogenesis of spinocerebellar ataxia type 1
    Nature Clinical Practice Neurology, 2008, 4 (7): : 350 - 350
  • [32] Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics
    Paulino, Rodrigo
    Nobrega, Clevio
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (08)
  • [33] The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10
    Wakamiya, M.
    Matsuura, T.
    Liu, Y.
    Schuster, G. C.
    Gao, R.
    Xu, W.
    Sarkar, P. S.
    Lin, X.
    Ashizawa, T.
    NEUROLOGY, 2006, 67 (04) : 607 - 613
  • [34] Trehalose Attenuates the Gait Ataxia and Gliosis of Spinocerebellar Ataxia Type 17 Mice
    Zhi-Zhong Chen
    Chien-Ming Wang
    Guan-Chiun Lee
    Ho-Chiang Hsu
    Tzu-Ling Wu
    Chia-Wei Lin
    Chih-Kang Ma
    Guey-Jen Lee-Chen
    Hei-Jen Huang
    Hsiu Mei Hsieh-Li
    Neurochemical Research, 2015, 40 : 800 - 810
  • [35] Trehalose Attenuates the Gait Ataxia and Gliosis of Spinocerebellar Ataxia Type 17 Mice
    Chen, Zhi-Zhong
    Wang, Chien-Ming
    Lee, Guan-Chiun
    Hsu, Ho-Chiang
    Wu, Tzu-Ling
    Lin, Chia-Wei
    Ma, Chih-Kang
    Lee-Chen, Guey-Jen
    Huang, Hei-Jen
    Hsieh-Li, Hsiu Mei
    NEUROCHEMICAL RESEARCH, 2015, 40 (04) : 800 - 810
  • [36] Non-invasive "phenotyping" of patients with spinocerebellar ataxia type 3 and spinocerebellar ataxia type 6 by molecular imaging
    Heiss, WD
    Thomas, A
    Schoels, L
    Abele, M
    Kessler, J
    Kalbe, E
    Lenz, O
    Hilker, R
    Rudolf, J
    Klockgether, T
    Jacobs, AH
    ANNALS OF NEUROLOGY, 2004, 56 : S20 - S20
  • [37] Spinocerebellar ataxia type 17 in a patient from an Indian kindred
    Haubenberger, Dietrich
    Prayer, Daniela
    Bauer, Peter
    Pirker, Walter
    Zimprich, Alexander
    Auff, Eduard
    JOURNAL OF NEUROLOGY, 2006, 253 (11) : 1513 - 1515
  • [38] Spinocerebellar ataxia type 17 in a patient from an Indian kindred
    Dietrich Haubenberger
    Daniela Prayer
    Peter Bauer
    Walter Pirker
    Alexander Zimprich
    Eduard Auff
    Journal of Neurology, 2006, 253 : 1513 - 1515
  • [39] EXTRAPYRAMIDAL SIGNS ARE A COMMON FEATURE OF SPINOCEREBELLAR ATAXIA TYPE 17
    Lee, W. -W.
    Kim, S. Y.
    Kim, J. Y.
    Kim, H. J.
    Park, S. S.
    Jeon, B. S.
    NEUROLOGY, 2009, 73 (20) : 1708 - 1709
  • [40] Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17
    Rasmussen, Astrid
    De Biase, Irene
    Fragoso-Benitez, Marcela
    Macias-Flores, Marco Antonio
    Yescas, Petra
    Ochoa, Adriana
    Ashizawa, Tetsuo
    Alonso, Maria Elisa
    Bidichandani, Sanjay I.
    ANNALS OF NEUROLOGY, 2007, 61 (06) : 607 - 610
12345