TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS

被引：0
|
作者：
HARDING, AE
GIUNTI, P
SWEENEY, MG
SPADARO, M
JODICE, C
NOVELLETTO, A
MALASPINA, P
FRONTALI, M
机构：
来源：
ANNALS OF NEUROLOGY | 1994年 / 36卷 / 02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：260 / 260
页数：1
相关论文
共 50 条
  • [21] Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
    Tang, BS
    Liu, CY
    Shen, L
    Dai, HP
    Pan, Q
    Jing, LJ
    Shan, QY
    Xia, JH
    ARCHIVES OF NEUROLOGY, 2000, 57 (04) : 540 - 544
  • [22] Possible association between schizophrenia and a CAG repeat polymorphism in the SCA1 gene on human chromosome 6p23.
    Joo, EJ
    Cannon, TD
    Price, RA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 74 (06): : 665 - 666
  • [23] RFC1 intronic repeat expansion in Serbian patients with sporadic and seemingly autosomal recessive cerebellar ataxias
    Milovanovic, A.
    Miskovic, N. Dragasevic
    Borsche, M.
    Hinrichs, F.
    Thomsen, M.
    Westenberger, A.
    Lohmann, K.
    Klein, C.
    Kostic, V.
    Brueggemann, N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 618 - 618
  • [24] THE GENE FOR AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA1) MAPS CENTROMERIC TO D6S89 AND SHOWS NO RECOMBINATION, IN 9 LARGE KINDREDS, WITH A DINUCLEOTIDE REPEAT AT THE AM10 LOCUS
    KWIATKOWSKI, TJ
    ORR, HT
    BANFI, S
    MCCALL, AE
    JODICE, C
    PERSICHETTI, F
    NOVELLETTO, A
    LEBORGNEDEMARQUOY, F
    DUVICK, LA
    FRONTALI, M
    SUBRAMONY, SH
    BEAUDET, AL
    TERRENATO, L
    ZOGHBI, HY
    RANUM, LPW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (02) : 391 - 400
  • [25] Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
    Worth, PF
    Dunne, E
    Nemeth, AH
    Wood, NW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A499 - A499
  • [26] Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation
    Seshagiri, Doniparthi Venkata
    Sasidharan, Arun
    Kumar, Gulshan
    Pal, Pramod Kumar
    Jain, Sanjeev
    Kutty, Bindu M.
    Yadav, Ravi
    SLEEP MEDICINE, 2018, 42 : 97 - 102
  • [27] Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
    Savic, D
    Topisirovic, I
    Keckarevic, M
    Keckarevic, D
    Major, T
    Culjkovic, B
    Stojkovic, O
    Rakocevic-Stojanovic, V
    Mladenovic, J
    Todorovic, S
    Apostolski, S
    Romac, S
    PSYCHIATRIC GENETICS, 2001, 11 (04) : 201 - 205
  • [28] Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I:: SCA1 and SCA2 are the most common genotypes
    Pareyson, D
    Gellera, C
    Castellotti, B
    Antonelli, A
    Riggio, MC
    Mazzucchelli, F
    Girotti, F
    Pietrini, V
    Mariotti, C
    Di Donato, S
    JOURNAL OF NEUROLOGY, 1999, 246 (05) : 389 - 393
  • [29] Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
    Davide Pareyson
    Cinzia Gellera
    Barbara Castellotti
    Antonella Antonelli
    Maria Concetta Riggio
    Franca Mazzucchelli
    Floriano Girotti
    Vladimiro Pietrini
    Caterina Mariotti
    S. Di Donato
    Journal of Neurology, 1999, 246 : 389 - 393
  • [30] Autosomal dominant cerebellar ataxia type I:: MRI-based volumetry of posterior fossa structures and basal ganglia in SCA1, SCA2 and SCA3
    Klockgether, T
    Wedekind, D
    Schulz, JB
    Bürk, K
    Abele, M
    Luft, A
    Skalej, M
    NEUROLOGY, 1998, 50 (04) : A94 - A94
12345