TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

被引:29
作者
Conforti, F. L. [1 ]
Sproviero, W. [1 ]
Simone, I. L. [2 ]
Mazzei, R. [1 ]
Valentino, P. [3 ]
Ungaro, C. [1 ]
Magariello, A. [1 ]
Patitucci, A. [1 ]
La Bella, V. [4 ]
Sprovieri, T. [1 ]
Tedeschi, G. [5 ]
Citrigno, L. [1 ,5 ]
Gabriele, A. L. [1 ]
Bono, F. [3 ]
Monsurro, M. R.
Muglia, M. [1 ]
Gambardella, A. [1 ,3 ]
Quattrone, A. [3 ]
机构
[1] CNR, Inst Neurol Sci, Cosenza, Italy
[2] Univ Bari, Dept Neurol & Psychiat Sci, Bari, Italy
[3] Magna Graecia Univ Catanzaro, Inst Neurol, Catanzaro, Italy
[4] Univ Palermo, Dept Neurol & Psychiat, Palermo, Italy
[5] Univ Naples 2, Div Neurol 2, Naples, Italy
关键词
TDP-43; ALS;
D O I
10.1136/jnnp.2009.198309
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:587 / 588
页数:6
相关论文
共 5 条
[1]   Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease [J].
Buratti, Emanuele ;
Baralle, Francisco E. .
FRONTIERS IN BIOSCIENCE-LANDMARK, 2008, 13 :867-878
[2]   TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations [J].
Del Bo, R. ;
Ghezzi, S. ;
Corti, S. ;
Pandolfo, M. ;
Ranieri, M. ;
Santoro, D. ;
Ghione, I. ;
Prelle, A. ;
Orsetti, V. ;
Mancuso, M. ;
Soraru, G. ;
Briani, C. ;
Angelini, C. ;
Siciliano, G. ;
Bresolin, N. ;
Comi, G. P. .
EUROPEAN JOURNAL OF NEUROLOGY, 2009, 16 (06) :727-732
[3]   TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis [J].
Kabashi, Edor ;
Valdmanis, Paul N. ;
Dion, Patrick ;
Spiegelman, Dan ;
McConkey, Brendan J. ;
Velde, Christine Vande ;
Bouchard, Jean-Pierre ;
Lacomblez, Lucette ;
Pochigaeva, Ksenia ;
Salachas, Francois ;
Pradat, Pierre-Francois ;
Camu, William ;
Meininger, Vincent ;
Dupre, Nicolas ;
Rouleau, Guy A. .
NATURE GENETICS, 2008, 40 (05) :572-574
[4]   Rethinking ALS: The FUS about TDP-43 [J].
Lagier-Tourenne, Clotilde ;
Cleveland, Don W. .
CELL, 2009, 136 (06) :1001-1004
[5]   Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations [J].
Mackenzie, Ian R. A. ;
Bigio, Eileen H. ;
Ince, Paul G. ;
Geser, Felix ;
Neumann, Manuela ;
Cairns, Nigel J. ;
Kwong, Linda K. ;
Forman, Mark S. ;
Ravits, John ;
Stewart, Heather ;
Eisen, Andrew ;
Mcclusky, Leo ;
Kretzschmar, Hans A. ;
Monoranu, Camelia M. ;
Highley, J. Robin ;
Kirby, Janine ;
Siddique, Teepu ;
Shaw, Pamela J. ;
Lee, Virginia M-Y. ;
Trojanowski, John Q. .
ANNALS OF NEUROLOGY, 2007, 61 (05) :427-434