ANALYSIS OF SCA1 AND DRPLA MUTATIONS IN A LARGE POPULATION OF SPINOCEREBELLAR ATAXIA PATIENTS

被引：0
|
作者：
SILVEIRA, I
LOPESCENDES, I
KISH, S
STEINER, CE
PINTOJUNIOR, W
MACIEL, JA
BOTEZ, MI
ARRUDA, W
TIEVE, H
JAIN, S
SACK, G
RADVANY, J
ANDERMANN, E
SEQUIROS, J
ROULEAU, GA
机构：
来源：
NEUROLOGY | 1995年 / 45卷 / 04期
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：
引用
收藏
页码：A422 / A422
页数：1
相关论文
共 50 条
  • [1] MOLECULAR DIAGNOSIS OF SCA1, DRPLA AND MJD MUTATIONS IN A LARGE GROUP OF ATAXIA PATIENTS
    SILVEIRA, I
    LOPESCENDES, I
    SEQUEIROS, J
    ROULEAU, GA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1317 - 1317
  • [2] Frequency of SCA1, DRPLA, MJD, SCA2 and SCA6 mutations in a large group of Portuguese families with spinocerebellar ataxia
    Silveira, I
    Coutinho, P
    Maciel, P
    Hayes, S
    Dias, A
    Guimaraes, J
    Loureiro, LL
    Barros, J
    Chorao, R
    Ribeiro, P
    Bettencourt, M
    Serrano, P
    Silva, C
    Rouleau, GA
    Sequeiros, J
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 160 - 160
  • [3] Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
    LopesCendes, I
    Teive, HGA
    Calcagnotto, ME
    DaCosta, JC
    Cardoso, F
    Viana, E
    Maciel, JA
    Radvany, J
    Arruda, WO
    TrevisolBittencourt, PC
    Neto, PR
    Silveira, I
    Steiner, CE
    Pinto, W
    Santos, AS
    Neto, YC
    Werneck, LC
    Araujo, AQC
    Carakushansky, G
    Mello, LR
    Jardim, LB
    Rouleau, GA
    ARQUIVOS DE NEURO-PSIQUIATRIA, 1997, 55 (3B) : 519 - 529
  • [4] LINKAGE STUDIES IN SPINOCEREBELLAR ATAXIA (SCA1)
    ZOGHBI, HY
    POLLACK, MS
    FERRELL, RE
    DAIGER, SP
    LYONS, LA
    OBRIEN, WE
    BEAUDET, AL
    CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4): : 727 - 727
  • [5] Role of VEGF in spinocerebellar ataxia 1(SCA1)
    Cvetanovic, Marija
    Opal, Puneet
    JOURNAL OF NEUROIMMUNOLOGY, 2008, 203 (02) : 189 - 189
  • [6] POSITIONAL CLONING EFFORTS FOR SPINOCEREBELLAR ATAXIA (SCA1)
    KWIATKOWSKI, TJ
    MCCALL, AE
    CHINAULT, AC
    BEAUGER, AL
    ZOGHBI, HY
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 382 - 382
  • [7] Clinico-genetic correlation in Indian spinocerebellar ataxia (SCA1) patients
    Takkar, A.
    Ahmed, I.
    Shakya, S.
    Suroliya, V.
    Singh, R.
    Sonkar, A.
    Srivastava, A. K.
    Faruq, M.
    MOVEMENT DISORDERS, 2016, 31 : S342 - S342
  • [8] AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA) IN A SIBERIAN FOUNDER POPULATION - ASSIGNMENT TO THE SCA1 LOCUS
    LUNKES, A
    GOLDFARB, LG
    PLATONOV, FA
    ALEXEEV, VP
    DUENASBARAJAS, E
    GAJDUSEK, DC
    AUBURGER, G
    EXPERIMENTAL NEUROLOGY, 1994, 126 (02) : 310 - 312
  • [9] DOMINANTLY INHERITED SPINOCEREBELLAR ATAXIA (SCA1) LINKAGE STUDIES
    SHRIMPTON, AE
    VIJAYALAXMI
    EVANS, HJ
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1080 - 1080
  • [10] Translating RNAi Therapy for Spinocerebellar Ataxia 1 (SCA1) to the Clinic
    Keiser, Megan S.
    Boudreau, Ryan L.
    Kordower, Jeffrey H.
    Davidson, Beverly L.
    MOLECULAR THERAPY, 2014, 22 : S101 - S101
12345