SGCE mutations in a Taiwanese cohort of early-onset of dystonia

被引:0
|
作者
Huang, C. L.
Lai, S. C.
Yeh, T. H.
Weng, Y. H.
Lu, C. S.
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
1034
引用
收藏
页码:S343 / S343
页数:1
相关论文
共 50 条
  • [21] Treatment of early-onset dystonia: update and a new perspective
    Roubertie, A
    Echenne, B
    Cif, L
    Vayssiere, N
    Hemm, S
    Coubes, P
    CHILDS NERVOUS SYSTEM, 2000, 16 (06) : 334 - 340
  • [22] UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort
    Liao, Ting-Wei
    Chao, Chih-Ying
    Wu, Yih-Ru
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [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] Genetic testing for early-onset torsion dystonia (PTD)
    Igarreta, P
    Bertolini, R
    Herrera, M
    Micheli, F
    Bernath, V
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 214 (1-2) : 98 - 99
  • [25] A novel family with an unusual early-onset generalized dystonia
    Fabbrini, G
    Brancati, F
    Vacca, L
    Valente, EM
    Nemeth, A
    Meesaq, A
    Sykes, N
    Dallapiccola, B
    Berardelli, A
    MOVEMENT DISORDERS, 2005, 20 (01) : 81 - 86
  • [26] EARLY-ONSET DYSTONIA FOLLOWING TRAUMATIC BRAIN INJURY
    SILVER, JK
    LUX, WE
    ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION, 1994, 75 (08): : 885 - 888
  • [27] Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B
    Gorman, K. M.
    Meyer, E.
    Kurian, M. A.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (02) : 245 - 256
  • [28] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    Meyer, Esther
    Carss, Keren J.
    Rankin, Julia
    Nichols, John M. E.
    Grozeva, Detelina
    Joseph, Agnel P.
    Mencacci, Niccolo E.
    Papandreou, Apostolos
    Ng, Joanne
    Barra, Serena
    Ngoh, Adeline
    Ben-Pazi, Hilla
    Willemsen, Michel A.
    Arkadir, David
    Barnicoat, Angela
    Bergman, Hagai
    Bhate, Sanjay
    Boys, Amber
    Darin, Niklas
    Foulds, Nicola
    Gutowski, Nicholas
    Hills, Alison
    Houlden, Henry
    Hurst, Jane A.
    Israe, Zvi
    Kaminska, Margaret
    Limousin, Patricia
    Lumsden, Daniel
    Mckee, Shane
    Misra, Shibalik
    Mohammed, Shekeeb S.
    Nakou, Vasiliki
    Nicolai, Joost
    Nilsson, Magnus
    Pall, Hardev
    Peall, Kathryn J.
    Peters, Gregory B.
    Prabhakar, Prab
    Reuter, Miriam S.
    Rump, Patrick
    Sege, Reeval
    Sinnema, Margje
    Smith, Martin
    Turnpenny, Peter
    White, Susan M.
    Wieczorek, Dagmar
    Wiethoff, Sarah
    Wilson, Brian T.
    Winter, Gidon
    Wragg, Christopher
    NATURE GENETICS, 2017, 49 (02) : 223 - 237
  • [29] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    Esther Meyer
    Keren J Carss
    Julia Rankin
    John M E Nichols
    Detelina Grozeva
    Agnel P Joseph
    Niccolo E Mencacci
    Apostolos Papandreou
    Joanne Ng
    Serena Barral
    Adeline Ngoh
    Hilla Ben-Pazi
    Michel A Willemsen
    David Arkadir
    Angela Barnicoat
    Hagai Bergman
    Sanjay Bhate
    Amber Boys
    Niklas Darin
    Nicola Foulds
    Nicholas Gutowski
    Alison Hills
    Henry Houlden
    Jane A Hurst
    Zvi Israel
    Margaret Kaminska
    Patricia Limousin
    Daniel Lumsden
    Shane McKee
    Shibalik Misra
    Shekeeb S Mohammed
    Vasiliki Nakou
    Joost Nicolai
    Magnus Nilsson
    Hardev Pall
    Kathryn J Peall
    Gregory B Peters
    Prab Prabhakar
    Miriam S Reuter
    Patrick Rump
    Reeval Segel
    Margje Sinnema
    Martin Smith
    Peter Turnpenny
    Susan M White
    Dagmar Wieczorek
    Sarah Wiethoff
    Brian T Wilson
    Gidon Winter
    Christopher Wragg
    Nature Genetics, 2017, 49 : 223 - 237
  • [30] Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Bressman, Susan B.
    Raymond, Deborah
    Fuchs, Tania
    Heiman, Gary A.
    Ozelius, Laurie
    Saunders-Pullman, Rachel
    LANCET NEUROLOGY, 2009, 8 (05): : 441 - 446