Positron emission tomography in myoclonus-dystonia with ε-sarcoglycan mutation:: a case report

被引:0
|
作者
Tai, C.
Yen, R.
Yip, P.
Chang, S.
Lin, C.
Wu, R.
Lee, M.
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
P239
引用
收藏
页码:S395 / S395
页数:1
相关论文
共 50 条
  • [31] HEREDITARY MYOCLONUS-DYSTONIA (DYT11) DUE TO EPSILON SARCOGLYCAN MUTATION: THE WALTON CENTRE EXPERIENCE
    Wong, S. H.
    Steiger, M. J.
    Larner, A. J.
    Fletcher, N. A.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (11):
  • [32] Mutations in the ε-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families
    Han, F
    Lang, AE
    Racacho, L
    Bulman, DE
    Grimes, DA
    NEUROLOGY, 2003, 61 (02) : 244 - 246
  • [33] A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation
    Lehmann, Valentina Besa
    Rosenbaum, Marc
    Bulman, Dennis E.
    Read, Tara
    Metman, Leo Verhagen
    NEUROLOGY AND THERAPY, 2020, 9 (01) : 187 - 191
  • [34] A case report of myoclonus-dystonia with isolated myoclonus phenotype and novel mutation successfully treated with deep brain stimulation
    Besa Lehmann, V.
    Rosenbaum, M.
    Verhagen Metman, L.
    MOVEMENT DISORDERS, 2020, 35 : S593 - S594
  • [35] A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
    Higinbotham, Alissa S.
    Debrosse, Suzanne D.
    Kilbane, Camilla W.
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2023, 13
  • [36] Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction
    Menozzi, Elisa
    Balint, Bettina
    Latorre, Anna
    Valente, Enza Maria
    Rothwell, John C.
    Bhatia, Kailash P.
    MOVEMENT DISORDERS, 2019, 34 (11) : 1588 - 1601
  • [37] Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation
    Tai, Chun-Hwei
    Yen, Ruoh-Fan
    Lin, Chin-Hsien
    Yen, Kuo-Yang
    Yip, Ping-Keung
    Wu, Ruey-Meei
    Lee, Ming-Jen
    PARKINSONISM & RELATED DISORDERS, 2009, 15 (08) : 614 - 616
  • [38] A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
    de Leon, Meliza Angelica J.
    Rosales, Raymond L.
    Klein, Christine
    Westenberger, Ana
    BMC NEUROLOGY, 2022, 22 (01)
  • [39] A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
    Meliza Angelica J. de Leon
    Raymond L. Rosales
    Christine Klein
    Ana Westenberger
    BMC Neurology, 22
  • [40] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE
    Wada, Takahito
    Takano, Kyoko
    Tsurusaki, Yoshinori
    Miyake, Noriko
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Osaka, Hitoshi
    PEDIATRICS INTERNATIONAL, 2015, 57 (02) : 324 - 326