Analysis of NIPA1 (SPG6) mutations in autosomal dominant spastic paraplegia

被引：0
|
作者：
Klebe, S.
Lacour, A.
Durr, A.
Stojkovic, T.
Depienne, C.
Forlani, S.
Dussert, C.
Poea-Guyon, S.
Vuillaume, I.
Sablonniere, B.
Vermersch, P.
Brice, A.
Stevanin, G.
机构：
来源：
MOVEMENT DISORDERS | 2006年 / 21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：
P294
引用
收藏
页码：S409 / S409
页数：1
相关论文
共 50 条
  • [1] NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
    Klebe, Stephan
    Lacour, Arnaud
    Durr, Alexandra
    Stojkovic, Tanya
    Depienne, Christel
    Forlani, Sylvie
    Poea-Guyon, Sandrine
    Vuillaume, Isabelle
    Sablonniere, Bernard
    Vermersch, Patrick
    Brice, Alexis
    Stevanin, Giovanni
    NEUROGENETICS, 2007, 8 (02) : 155 - 157
  • [2] NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    Rainier, S
    Chai, JH
    Tokarz, D
    Nicholls, RD
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (04) : 967 - 971
  • [3] NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
    Rainier, S
    Chai, JH
    Tokarz, D
    Nicholls, RD
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 191 - 191
  • [4] NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
    Stephan Klebe
    Arnaud Lacour
    Alexandra Durr
    Tanya Stojkovic
    Christel Depienne
    Sylvie Forlani
    Sandrine Poea-Guyon
    Isabelle Vuillaume
    Bernard Sablonniere
    Patrick Vermersch
    Alexis Brice
    Giovanni Stevanin
    Neurogenetics, 2007, 8 : 155 - 157
  • [5] Molecular genetic analysis of SPG6/NIPA1 hereditary spastic paraplegia
    Kisanuki, Yasushi
    Rainier, Shirley
    Mata, Marina
    Fink, John
    NEUROLOGY, 2008, 70 (11) : A142 - A142
  • [6] NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter
    Goytain, Angela
    Hines, Rochelle M.
    El-Husseini, Alaa
    Quamme, Gary A.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (11) : 8060 - 8068
  • [7] TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
    Maria Martinez-Lage
    Laura Molina-Porcel
    Dana Falcone
    Leo McCluskey
    Virginia M.-Y. Lee
    Vivianna M. Van Deerlin
    John Q. Trojanowski
    Acta Neuropathologica, 2012, 124 : 285 - 291
  • [8] TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
    Martinez-Lage, Maria
    Molina-Porcel, Laura
    Falcone, Dana
    McCluskey, Leo
    Lee, Virginia M. -Y.
    Van Deerlin, Vivianna M.
    Trojanowski, John Q.
    ACTA NEUROPATHOLOGICA, 2012, 124 (02) : 285 - 291
  • [9] Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model
    Watanabe, Fumihiro
    Arnold, William D.
    Hammer, Robert E.
    Ghodsizadeh, Odelia
    Moti, Harmeet
    Schumer, Mackenzie
    Hashmi, Ahmed
    Hernandez, Anthony
    Sneh, Amita
    Sahenk, Zarife
    Kisanuki, Yaz Y.
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2013, 72 (11): : 1016 - 1028
  • [10] Functional analyses of the NIPA1 gene with dominant negative mutations in hereditary spastic paraplegia (SPG6) and mapping within the-Prader-Willi/Angelman syndrome region.
    Chai, JH
    Rainier, S
    Fink, JK
    Nicholls, RD
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 548 - 548
12345