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
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
  • [41] Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia
    Cheng, Fu Bo
    Wan, Xin Hua
    Feng, Jia Chun
    Ma, Ling Yan
    Hou, Bo
    Feng, Feng
    Wang, Lin
    Yang, Ying Mai
    PARKINSONISM & RELATED DISORDERS, 2012, 18 (08) : 978 - 982
  • [42] DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients
    Camargo, Carlos Henrique F.
    Camargos, Sarah Teixeira
    Raskin, Salmo
    Cardoso, Francisco Eduardo C.
    Teive, Helio Afonso G.
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2014, 4
  • [43] Membrane Defects and Genetic Redundancy: Are We at a Turning Point for DYT1 Dystonia?
    Cascalho, Ana
    Jacquemyn, Julie
    Goodchild, Rose E.
    MOVEMENT DISORDERS, 2017, 32 (03) : 371 - 381
  • [44] Persistent chorea in DYT6, due to anticholinergic therapy
    Antelmi, E.
    Erro, R.
    Pisani, A.
    Mencacci, N.
    Bhatia, K. P.
    PARKINSONISM & RELATED DISORDERS, 2015, 21 (10) : 1282 - 1283
  • [45] Opioid binding in DYT1 primary torsion dystonia:: An 11C-diprenorphine PET Study
    Whone, AL
    Von Spiczak, S
    Edwards, M
    Valente, EM
    Hammers, A
    Bhatia, KP
    Brooks, DJ
    MOVEMENT DISORDERS, 2004, 19 (12) : 1498 - 1503
  • [46] Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction
    Ponterio, Giulia
    Faustini, Gaia
    El Atiallah, Ilham
    Sciamanna, Giuseppe
    Meringolo, Maria
    Tassone, Annalisa
    Imbriani, Paola
    Cerri, Silvia
    Martella, Giuseppina
    Bonsi, Paola
    Bellucci, Arianna
    Pisani, Antonio
    MOVEMENT DISORDERS, 2022, 37 (05) : 949 - 961
  • [47] DYT6 in Japan-genetic screening and clinical characteristics of the patients
    Miyamoto, Ryosuke
    Koizumi, Hidetaka
    Morino, Hiroyuki
    Kawarai, Toshitaka
    Maruyama, Hirofumi
    Mukai, Yohei
    Miyashiro, Ai
    Sako, Wataru
    Izumi, Yuishin
    Kawakami, Hideshi
    Kaji, Ryuji
    MOVEMENT DISORDERS, 2014, 29 (02) : 278 - 280
  • [48] Impaired motor learning in mice expressing TorsinA with the DYT1 dystonia mutation
    Sharma, N
    Baxter, MG
    Petravicz, J
    Bragg, DC
    Schienda, A
    Standaert, DG
    Breakefield, XO
    JOURNAL OF NEUROSCIENCE, 2005, 25 (22): : 5351 - 5355
  • [49] Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort
    Chen, Y.
    Burgunder, J. -M.
    Song, W.
    Huang, R.
    Shang, H. -F.
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 (06) : 924 - 926
  • [50] The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia
    Liu, Yuning
    Xing, Hong
    Wilkes, Bradley J.
    Yokoi, Fumiaki
    Chen, Huanxin
    Vaillancourt, David E.
    Li, Yuqing
    BRAIN RESEARCH BULLETIN, 2020, 165 : 14 - 22