Do distribution and co-existent myoclonus and dystonia aid in the identification of SGCE mutations?

被引:0
|
作者
Zutt, R.
Dijk, J. M.
Peall, K.
Speelman, H.
Dreissen, Y. E. M.
Contarino, M. F.
Tijssen, M. A. J.
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
1220
引用
收藏
页码:S474 / S475
页数:2
相关论文
共 22 条
  • [1] Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease
    Peall, K.
    Waite, A.
    Kurian, M.
    Wardle, M.
    Hedderly, T.
    Lin, J. P.
    Smith, M.
    Pall, H.
    King, M.
    Lynch, T.
    White, C.
    Chinnery, P.
    Warner, T.
    Blake, D.
    Owen, M.
    Morris, H.
    JOURNAL OF NEUROLOGY, 2012, 259 : S30 - S30
  • [2] Defining the phenotypic signature of SGCE mutations in myoclonus-dystonia patients
    Carecchio, M.
    Bonetti, M.
    Magliozzi, M.
    Edwards, M. J.
    Ferraris, A.
    Torrente, I.
    Bhatia, K. P.
    Valente, E. M.
    MOVEMENT DISORDERS, 2011, 26 : S324 - S324
  • [3] Myoclonus-dystonia -: Clinical and electrophysiologic pattern related to SGCE mutations
    Roze, E.
    Apartis, E.
    Clot, F.
    Dorison, N.
    Thobois, S.
    Guyant-Marechal, L.
    Tranchant, C.
    Damier, P.
    Doummar, D.
    Bahi-Buisson, N.
    Andre-Obadia, N.
    Maltete, D.
    Echaniz-Laguna, A.
    Pereon, Y.
    Beaugendre, Y.
    Dupont, S.
    De Greslan, T.
    Jedynak, C. P.
    Ponsot, G.
    Dussaule, J. C.
    Brice, A.
    Duerr, A.
    Vidailhet, M.
    NEUROLOGY, 2008, 70 (13) : 1010 - 1016
  • [4] Myoclonus-dystonia:: Detection of novel, recurrent, and de novo SGCE mutations
    Hedrich, K
    Meyer, EM
    Schüle, B
    Kock, N
    Aguiar, PD
    Wiegers, K
    Koelman, JH
    Garrels, J
    Dürr, R
    Liu, L
    Schwinger, E
    Ozelius, LJ
    Landwehrmeyer, B
    Stoessl, AJ
    Tijssen, MAJ
    Klein, C
    NEUROLOGY, 2004, 62 (07) : 1229 - 1231
  • [5] Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome
    Rachad, Laila
    El Otmani, Hicham
    Karkar, Adnane
    El Moutawakil, Bouchra
    El Kadmiri, Nadia
    Nadifi, Sellama
    NEUROSCIENCE LETTERS, 2019, 703 : 1 - 4
  • [6] Is Psychiatric Disease a Core Phenotype of Myoclonus Dystonia Syndrome Caused by SGCE Mutations?
    Peall, Kathryn J.
    Kurian, Manju A.
    Wardle, Mark
    Smith, Martin
    Pall, Hardev
    Lin, Jean-Pierre
    Hedderly, Tammy
    Whone, Alan
    White, Cathy
    Lux, Andrew
    Waite, Adrian J.
    Samuel, Michael
    Lynch, Timothy
    Chinnery, Patrick F.
    Kirov, George
    King, Mary
    Blake, Derek J.
    Morris, Huw R.
    Smith, Daniel J.
    Owen, Michael J.
    ANNALS OF NEUROLOGY, 2012, 72 : S103 - S103
  • [7] Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations
    Ikezawa, Jun
    Yokochi, Fusako
    Okiyama, Ryoichi
    Isoo, Ayako
    Agari, Takashi
    Kamiyama, Tsutomu
    Yugeta, Akihiro
    Tojima, Maya
    Kawasaki, Takashi
    Watanabe, Katsushige
    Kumada, Satoko
    Takahashi, Kazushi
    JOURNAL OF NEUROLOGY, 2024, 271 (06) : 2948 - 2954
  • [8] Novel and De Novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia
    Borges, Vanderci
    de Carvalho Aguiar, Patricia
    Ferraz, Henrique Ballalai
    Ozelius, Laurie J.
    MOVEMENT DISORDERS, 2007, 22 (08) : 1208 - 1209
  • [9] Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia
    Azuma, Kenko
    Horisawa, Shiro
    Mashimo, Hideaki
    Fukuda, Mitsumasa
    Kumada, Satoko
    Kawamata, Takakazu
    Taira, Takaomi
    Akagawa, Hiroyuki
    CLINICAL GENETICS, 2023, 103 (02) : 209 - 213
  • [10] Mutations in the gene for epsilon-sarcoglycan (SGCE) cause myoclonus-dystonia syndrome.
    Grabowski, M
    Zimprich, A
    Asmus, F
    Bauer, M
    Naumann, M
    Berg, D
    Bertram, M
    Winkelmann, J
    Müller-Myhsok, B
    Meitinger, T
    Strom, TM
    Gasser, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 186 - 186