A novel SPG10 mutation associated with hereditary spastic paraplegia, dysautonomia and spinal cord atrophy

被引：0
|
作者：
Collongues, N.
Depienne, C.
Echaniz-Laguna, A.
Durr, A.
Stevanin, G.
Leguern, E.
Brice, A.
Labauge, P.
de Seze, J.
机构：
[1] Hop Univ Strasbourg, Strasbourg, France
[2] Hop La Pitie Salpetriere, Paris, France
[3] Hop Univ Montpellier Nice, Montpellier, France
来源：
MULTIPLE SCLEROSIS JOURNAL | 2011年 / 17卷
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：
P643
引用
收藏
页码：S280 / S280
页数：1
相关论文
共 50 条
  • [31] Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes
    Li, Yu-sheng
    Mao, Cheng-yuan
    Shi, Chang-he
    Song, Bo
    Wu, Jun
    Qin, Jie
    Ji, Yan
    Niu, Hui-xia
    Luo, Hai-yang
    Shang, Dan-dan
    Sun, Shi-lei
    Xu, Yu-ming
    JOURNAL OF CLINICAL NEUROSCIENCE, 2015, 22 (07) : 1150 - 1154
  • [32] A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family
    Li Xun-hua
    Song Chun
    Chen Su-qin
    Zhou Yan
    Guo Hui
    Zhou Chun-long
    Yang Zhi-yun
    Liang Yin-xing
    Wang Yi-ming
    CHINESE MEDICAL JOURNAL, 2007, 120 (09) : 834 - 837
  • [33] Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene
    C. Tzoulis
    P. S. Denora
    F. M. Santorelli
    L. A. Bindoff
    Journal of Neurology, 2008, 255 : 1142 - 1144
  • [34] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
    Wang, Jie
    Bu, Wei-Ting
    Zhu, Mei-Jia
    Tang, Ji-You
    Liu, Xiao-Min
    WORLD JOURNAL OF CLINICAL CASES, 2023, 11 (14) : 3288 - 3294
  • [35] Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene
    Tzoulis, C.
    Denora, P. S.
    Bindoff, L. A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 : 240 - 240
  • [36] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
    Jie Wang
    Wei-Ting Bu
    Mei-Jia Zhu
    Ji-You Tang
    Xiao-Min Liu
    World Journal of Clinical Cases, 2023, (14) : 3288 - 3294
  • [37] A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family
    LI Xunhua SONG Chun CHEN Suqin ZHOU Yan GUO Hui ZHOU Chunlong YANG Zhiyun LIANG Yinxing WANG Yiming Department of Neurology Li XH Liang YXDepartment of Radiology Yang ZYFirst Affiliated Hospital Sun YatSen University Guangzhou China Laboratory for Cellular Transplantation First Affiliated HospitalHarbin Medical University Harbin China Song CDepartment of Medical Genetics Zhongshan Medical College Sun YatSen University Guangzhou China Chen SQ Guo H Wang YMChinese National Human Genome Centre at Shanghai Shanghai China Zhou YHangzhou Genomics Centre Hangzhou China Zhou CL
    Chinese Medical Journal, 2007, 120 (09) : 834 - 837
  • [38] Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene
    Tzoulis, Charalampos
    Denora, Paola S.
    Santorelli, Filippo M.
    Bindoff, Laurence A.
    JOURNAL OF NEUROLOGY, 2008, 255 (08) : 1142 - 1144
  • [39] A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family
    LI Xun-hua SONG Chun CHEN Su-qin ZHOU Yan GUO Hui ZHOU Chun-long YANG Zhi-yun LIANG Yin-xing WANG Yi-ming Department of Neurology (Li XH Liang YX)Department of Radiology (Yang ZY)First Affiliated Hospital
    中华医学杂志(英文版), 2007, (09) : 834 - 837
  • [40] 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
12345