Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients

被引：0
|
作者：
Subhajit Giri
Arindam Biswas
Shyamal Kumar Das
Kunal Ray
Jharna Ray
机构：
[1] University of Calcutta,S. N. Pradhan Centre for Neurosciences
[2] Bangur Institute of Neurosciences & Psychiatry,undefined
[3] CSIR-Indian Institute of Chemical Biology,undefined
来源：
Molecular Cytogenetics | / 7卷 / Suppl 1期
关键词：
Dystonia; Blepharospasm; Sustained Muscle Contraction; Heterozygous Deletion; Juvenile Onset;
D O I：
10.1186/1755-8166-7-S1-P121
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Clinical evaluation of DYT6 dystonia in Serbia
    Kresojevic, N.
    Svetel, M.
    Dobricic, V.
    Novakovic, I.
    Stojkovic, T.
    Kostic, V.
    JOURNAL OF NEUROLOGY, 2011, 258 : 83 - 84
  • [32] Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia
    Dobricic, Valerija S.
    Kresojevic, Nikola D.
    Svetel, Marina V.
    Jankovic, Milena Z.
    Petrovic, Igor N.
    Tomic, Aleksandra D.
    Novakovic, Ivana V.
    Kostic, Vladimir S.
    JOURNAL OF NEUROLOGY, 2013, 260 (04) : 1037 - 1042
  • [33] Neuropsychological profile of DYT1 dystonia
    Balas, Meirav
    Peretz, Chava
    Badarny, Samih
    Scott, Richard B.
    Giladi, Nir
    MOVEMENT DISORDERS, 2006, 21 (12) : 2073 - 2077
  • [34] TorsinA and DYT1 dystonia: a synaptopathy?
    Warner, Thomas T.
    Granata, Alassandra
    Schiavo, Giampietro
    BIOCHEMICAL SOCIETY TRANSACTIONS, 2010, 38 : 452 - 456
  • [35] Novel THAP1 (DYT6) Substitutions in Polish Patients with Dystonia
    Liberski, Pawel P.
    Golanska, Ewa
    Gajos, Agata
    Sieruta, Monika
    Bogucki, Andrzej
    ANNALS OF NEUROLOGY, 2015, 78 : S53 - S53
  • [36] Psychiatric disorder in DYT1 dystonia
    Yahya, Ahmed Saeed
    Naguib, Meena
    Khawaja, Shakil
    PROGRESS IN NEUROLOGY AND PSYCHIATRY, 2023, 27 (02) : 24 - 26
  • [37] DYT1 mutation in primary torsion dystonia in Serbian population
    Kostic, VS
    Major, T
    Svetel, M
    Kabaksi, K
    Klein, C
    Romac, S
    MOVEMENT DISORDERS, 2002, 17 : S285 - S286
  • [38] Molecular genetic analysis of DYT6/THAP1 gene in Serbian dystonia patients
    Novakovic, I.
    Dobricic, V.
    Kresojevic, N.
    Jankovic, M.
    Petrovic, I.
    Svetel, M.
    Klein, C.
    Kostic, V. S.
    MOVEMENT DISORDERS, 2011, 26 : S314 - S314
  • [39] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    Fuchs, Tania
    Gavarini, Sophie
    Saunders-Pullman, Rachel
    Raymond, Deborah
    Ehrlich, Michelle E.
    Bressman, Susan B.
    Ozelius, Laurie J.
    NATURE GENETICS, 2009, 41 (03) : 286 - 288
  • [40] DYT6 in Japanese patients with primary dystonia-Genetic screening and response to treatment
    Miyamoto, R.
    Koizumi, H.
    Kawakami, H.
    Kawarai, T.
    Morigaki, R.
    Mukai, Y.
    Sato, K.
    Izumi, Y.
    Morino, H.
    Maruyama, H.
    Goto, S.
    Kaji, R.
    MOVEMENT DISORDERS, 2012, 27 : S352 - S352
12345