Molecular analysis of spastin gene (SPG4) mutations in patients with familial and sporadic spastic paraplegia

被引:0
|
作者
Baratta, S. [1 ]
Di Bella, D. [1 ]
Mariotti, C. [1 ]
Fancellu, R. [1 ]
Di Donato, S. [1 ]
Gellera, C. [1 ]
Taroni, F. [1 ]
机构
[1] IRCCS Ist Neurol Carlo Besta, Milan, Italy
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
O86
引用
收藏
页码:17 / 17
页数:1
相关论文
共 50 条
  • [1] Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
    Magariello, Angela
    Muglia, Maria
    Patitucci, Alessandra
    Mazzei, Rosalucia
    Conforti, Francesca Luisa
    Gabriele, Anna Lia
    Sprovieri, Teresa
    Ungaro, Carmine
    Gambardella, Antonio
    Mancuso, Michelangelo
    Siciliano, Gabriele
    Branca, Damiano
    Aguglia, Umberto
    de Angelis, Maria Vittoria
    Longo, Katia
    Quattrone, Aldo
    NEUROMUSCULAR DISORDERS, 2006, 16 (06) : 387 - 390
  • [2] Screening of Patients with Hereditary Spastic Paraplegia Reveals Seven Novel Mutations in the SPG4 (Spastin) Gene
    Proukakis, C.
    Auer-Grumbach, M.
    Wagner, K.
    Wilkinson, P. A.
    Reid, E.
    Patton, M. A.
    Warner, T. T.
    Crosby, A. H.
    HUMAN MUTATION, 2003, 21 (02)
  • [3] Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    Sauter, S
    Miterski, B
    Klimpe, S
    Bönsch, D
    Schöls, L
    Visbeck, A
    Papke, T
    Hopf, HC
    Engel, W
    Deufel, T
    Epplen, JT
    Neesen, J
    HUMAN MUTATION, 2002, 20 (02) : 127 - 132
  • [4] Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    Joachim Bürger
    Nuria Fonknechten
    Maria Hoeltzenbein
    Luitgart Neumann
    Elfriede Bratanoff
    Jamilé Hazan
    André Reis
    European Journal of Human Genetics, 2000, 8 : 771 - 776
  • [5] Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    Bürger, J
    Fonknechten, N
    Hoeltzenbein, M
    Neumann, L
    Bratanoff, E
    Hazan, J
    Reis, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (10) : 771 - 776
  • [6] Different mutations in the spastin gene result in distinct electrophysiological phenotypes in patients with hereditary spastic paraplegia type 4 (SPG4).
    Boensch, D
    Schwindt, A
    Navratil, P
    Palm, D
    Klimpe, S
    Hazan, J
    Weiller, C
    Deufel, T
    Liepert, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 350 - 350
  • [7] Molecular and functional analysis of paraplegin gene (SPG7) mutations in patients with familial and sporadic spastic paraplegia
    DiBella, D.
    Mariotti, C.
    Plumari, M.
    Lazzaro, F.
    Muzi-Falconi, M.
    Fracasso, V.
    Fancellu, R.
    DiDonato, S.
    Baratta, S.
    Gellera, C.
    Taroni, F.
    JOURNAL OF NEUROLOGY, 2007, 254 : 19 - 19
  • [8] Mutation screening of the spastin gene (SPG4) for autosomal dominant hereditary spastic paraplegia
    Nihalani, V
    Campbell, JK
    Smith, B
    Shaw, C
    Abbs, SJ
    Renwick, P
    JOURNAL OF MEDICAL GENETICS, 2003, 40 : S78 - S78
  • [9] Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
    Lindsey, JC
    Lusher, ME
    McDermott, CJ
    White, KD
    Reid, E
    Rubinsztein, DC
    Bashir, R
    Hazan, J
    Shaw, PJ
    Bushby, KMD
    JOURNAL OF MEDICAL GENETICS, 2000, 37 (10) : 759 - 765
  • [10] Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia
    Proukakis, C
    Hart, PE
    Cornish, A
    Warner, TT
    Crosby, AH
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 201 (1-2) : 65 - 69