Identification of a new form of autosomal dominant spastic paraplegia

被引:8
|
作者
Subramony, S. H. [2 ,3 ]
Nguyen, T. V. [1 ]
Langford, L. [2 ]
Lin, X. [3 ]
Parent, A. D. [1 ]
Zhang, J. [1 ,2 ]
机构
[1] Univ Mississippi, Med Ctr, Dept Neurosurg, Jackson, MS 39216 USA
[2] Univ Mississippi, Med Ctr, Dept Neurol, Jackson, MS 39216 USA
[3] Univ Texas Med Branch, Dept Neurol, Galveston, TX USA
关键词
SILVER-SYNDROME; GENETIC-HETEROGENEITY; LOCUS; MAPS; MUTATIONS; PROTEIN; LINKAGE;
D O I
10.1111/j.1399-0004.2008.01122.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:113 / 116
页数:4
相关论文
共 50 条
  • [41] Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1
    Jianda Wang
    Yanqi Hou
    Lina Qi
    Shuang Zhai
    Liangwu Zheng
    Lin Han
    Yufan Guo
    Bijun Zhang
    Pu Miao
    Yuting Lou
    Xiaoxiao Xu
    Ye Wang
    Yanqi Ren
    Zhenhua Cao
    Jianhua Feng
    neurogenetics, 2020, 21 : 169 - 177
  • [42] A novel kinesin mutation causes autosomal dominant spastic paraplegia in a German family
    Schöls, L.
    Auer-Grumbach, M.
    Kassubek, J.
    Klimpe, S.
    Klopstock, T.
    Otto, S.
    van de Warrenburg, B.
    Schule, R.
    MOVEMENT DISORDERS, 2006, 21 : S424 - S424
  • [43] AUTOSOMAL DOMINANT FAMILIAL SPASTIC PARAPLEGIA - DESCRIPTION OF A LARGE NEW-ENGLAND FAMILY AND A STUDY OF MANAGEMENT
    COOLEY, WC
    MELKONIAN, G
    MOSES, C
    MOESCHLER, JB
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1990, 32 (12): : 1098 - 1104
  • [44] LINKAGE OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME 2P
    HAZAN, J
    FONTAINE, B
    BRUYN, RPM
    LAMY, C
    VANDEUTEKOM, JCT
    RIME, CS
    DURR, A
    MELKI, J
    LYONCAEN, O
    AGID, Y
    MUNNICH, A
    PADBERG, GW
    DERECONDO, J
    FRANTS, RR
    BRICE, A
    WEISSENBACH, J
    HUMAN MOLECULAR GENETICS, 1994, 3 (09) : 1569 - 1573
  • [45] Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1
    Wang, Jianda
    Hou, Yanqi
    Qi, Lina
    Zhai, Shuang
    Zheng, Liangwu
    Han, Lin
    Guo, Yufan
    Zhang, Bijun
    Miao, Pu
    Lou, Yuting
    Xu, Xiaoxiao
    Wang, Ye
    Ren, Yanqi
    Cao, Zhenhua
    Feng, Jianhua
    NEUROGENETICS, 2020, 21 (03) : 169 - 177
  • [46] Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia.
    Zhao, X
    Alvarado, D
    Rainier, S
    Lemons, R
    Hedera, P
    Weber, C
    Tukel, T
    Apak, M
    Heiman-Patterson, T
    Ming, L
    Buil, M
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 195 - 195
  • [47] Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
    P. Hedera
    O. P. Eldevik
    P. Maly
    S. Rainier
    J. K. Fink
    Neuroradiology, 2005, 47 : 730 - 734
  • [48] High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
    Beetz, C.
    Nygren, A. O. H.
    Schickel, J.
    Auer-Grumbach, M.
    Buerk, K.
    Heide, G.
    Kassubek, J.
    Klimpe, S.
    Klopstock, T.
    Kreuz, F.
    Otto, S.
    Schuele, R.
    Schoels, L.
    Sperfeld, A. -D.
    Witte, O. W.
    Deufel, T.
    NEUROLOGY, 2006, 67 (11) : 1926 - 1930
  • [49] A novel form of autosomal dominant pure spastic paraplegia (SP) maps to chromosome 12q23-24
    Schule, Rebecca
    Durr, Alexandra
    Kassubek, Jan
    Klimpe, Sven
    Van De Warrenburg, B. P. C.
    Schoels, Ludger
    NEUROLOGY, 2007, 68 (12) : A252 - A252
  • [50] A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
    Warnecke, T.
    Duning, T.
    Schwan, A.
    Lohmann, H.
    Epplen, J. T.
    Epplen, J. T.
    Young, P.
    NEUROLOGY, 2007, 69 (04) : 368 - 375