Analysis of dystonia and rating scales in children and young adults with SGCE myoclonus dystonia

被引:0
|
作者
Correa-Vela, M.
Carvalho, J.
Vanegas, M.
Cazurro-Gutierrez, A.
Gonzalez, V.
Alvarez, R.
Marce-Grau, A.
Moreno, A.
Macaya, A.
Perez-Duenas, B.
机构
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
117
引用
收藏
页码:S51 / S52
页数:2
相关论文
共 50 条
  • [21] Novel SGCE Mutation in a Patient With Myoclonus-Dystonia A Case Report
    Klinman, Eva
    Gooch, Catherine
    Perlmutter, Joel S.
    Davis, Albert A.
    Maiti, Baijayanta
    NEUROLOGY-GENETICS, 2024, 10 (02)
  • [22] Developmental variability in paediatric SGCE-related myoclonus dystonia syndrome
    Tarrano, Clement
    Worbe, Yulia
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2025,
  • [23] Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome
    Huang, Chia-Ling
    Lan, Min-Yu
    Chang, Yung-Yee
    Hsu, Chia-Yu
    Lai, Szu-Chia
    Chen, Rou-Shayn
    Chang, Hsiu-Chen
    Lu, Chin-Song
    Wu-Chou, Yah-Huei
    PARKINSONISM & RELATED DISORDERS, 2010, 16 (09) : 585 - 589
  • [24] KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
    Mencacci, Niccolo E.
    Brueggemann, Norbert
    PARKINSONISM & RELATED DISORDERS, 2019, 61 : 1 - 3
  • [25] Dystonia rating scales: Critique and recommendations
    Albanese, Alberto
    Del Sorbo, Francesca
    Comella, Cynthia
    Jinnah, H. A.
    Mink, Jonathan W.
    Post, Bart
    Vidailhet, Marie
    Volkmann, Jens
    Warner, Thomas T.
    Leentjens, Albert F. G.
    Martinez-Martin, Pablo
    Stebbins, Glenn T.
    Goetz, Christopher G.
    Schrag, Anette
    MOVEMENT DISORDERS, 2013, 28 (07) : 874 - 883
  • [26] Rating scales for dystonia: A multicenter assessment
    Comella, CL
    Leurgans, S
    Wuu, J
    Stebbins, GT
    Chmura, T
    MOVEMENT DISORDERS, 2003, 18 (03) : 303 - 312
  • [27] Mutational analysis and identification of differential methylation patterns in the SGCE gene in patients with myoclonus dystonia.
    Liu, L
    Aguiar, PD
    Saunders-Pullmar, R
    Klein, C
    Bressman, S
    Ozelius, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 519 - 519
  • [28] Mutation analysis of the epsilon-sarcoglycan (SGCE) gene in ten families with myoclonus-dystonia
    Ozelius, L
    Liu, L
    Kock, N
    Aguiar, PD
    Mueller, B
    Raymond, D
    Harris, J
    Doheny, D
    Frucht, S
    Ford, B
    Lynch, T
    de-Leon, D
    Garrels, J
    Schwinger, E
    Brin, M
    Kurlan, R
    Lang, A
    Fahn, S
    Saunders-Pullman, R
    Klein, C
    Bressman, S
    NEUROLOGY, 2002, 58 (07) : A392 - A392
  • [29] A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype
    Tedroff, Kristina
    Rolfs, Arndt
    Norling, Andreas
    ACTA PAEDIATRICA, 2012, 101 (02) : E90 - E92
  • [30] SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
    Peall, Kathryn J.
    Kurian, Manju A.
    Wardle, Mark
    Waite, Adrian J.
    Hedderly, Tammy
    Lin, Jean-Pierre
    Smith, Martin
    Whone, Alan
    Pall, Hardev
    White, Cathy
    Lux, Andrew
    Jardine, Philip E.
    Lynch, Bryan
    Kirov, George
    O'Riordan, Sean
    Samuel, Michael
    Lynch, Timothy
    King, Mary D.
    Chinnery, Patrick F.
    Warner, Thomas T.
    Blake, Derek J.
    Owen, Michael J.
    Morris, Huw R.
    JOURNAL OF NEUROLOGY, 2014, 261 (12) : 2296 - 2304