TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

被引:47
|
作者
Lemmens, R. [1 ,2 ]
Race, V.
Hersmus, N. [2 ]
Matthijs, G. [3 ]
Van den Bosch, L. [2 ]
Van Damme, P. [1 ,2 ]
Dubois, B. [1 ]
Boonen, S. [4 ]
Goris, A.
Robberecht, W. [1 ,2 ]
机构
[1] Univ Louvain, Univ Hosp, Dept Neurol, B-3000 Louvain, Belgium
[2] Flanders Inst Biotechnol VIB, Vesalius Res Ctr, Louvain, Belgium
[3] Univ Louvain, Ctr Human Genet, Mol Diagnost Lab, B-3000 Louvain, Belgium
[4] Univ Louvain, Leuven Univ Dept Expt Med, Gerontol & Geriatr Sect, B-3000 Louvain, Belgium
来源
关键词
D O I
10.1136/jnnp.2008.157677
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:354 / U135
页数:2
相关论文
共 50 条
  • [31] TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation
    Tan, Chun-Feng
    Eguchi, Hiroto
    Tagawa, Asako
    Onodera, Osamu
    Iwasaki, Takuya
    Tsujino, Akira
    Nishizawa, Masatoyo
    Kakita, Akiyoshi
    Takahashi, Hitoshi
    ACTA NEUROPATHOLOGICA, 2007, 113 (05) : 535 - 542
  • [32] Clinical Significance of TDP-43 Neuropathology in Amyotrophic Lateral Sclerosis
    Cykowski, Matthew D.
    Powell, Suzanne Z.
    Peterson, Leif E.
    Appel, Joan W.
    Rivera, Andreana L.
    Takei, Hidehiro
    Chang, Ellen
    Appel, Stanley H.
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (05): : 402 - 413
  • [33] A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis
    Chami, Anna A.
    Beltran, Stephane
    Corcia, Philippe
    Andres, Christian R.
    Laumonnier, Frederic
    Blasco, Helene
    Vourc'h, Patrick
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2020, 21 (5-6) : 463 - 466
  • [34] TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
    Mackenzie, Ian R. A.
    Rademakers, Rosa
    Neumann, Manuela
    LANCET NEUROLOGY, 2010, 9 (10): : 995 - 1007
  • [35] TDP-43 consistently co-localised with ubiquitinated inclusions in sporadic amyotrophic lateral sclerosis but occasionally in familial amyotrophic lateral sclerosis with and without SOD1 mutation
    Al-Sarraj, S.
    Makaewa, S.
    King, A.
    Bodi, I.
    Hortobagyi, T.
    Shaw, C.
    Leigh, Nigel
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2008, 34 : 12 - 12
  • [36] Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases
    Geser, Felix
    Martinez-Lage, Maria
    Kwong, Linda K.
    Lee, Virginia M. -Y.
    Trojanowski, John Q.
    JOURNAL OF NEUROLOGY, 2009, 256 (08) : 1205 - 1214
  • [37] Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Hasegawa, Masato
    Ara, Tetsuaki
    Nonaka, Takashi
    Kametani, Fuyuki
    Yoshida, Mari
    Hashizume, Yoshio
    Beach, Thomas G.
    Buratti, Emanuele
    Baralle, Francisco
    Morita, Mitsuya
    Nakano, Imaharu
    Oda, Tatsuro
    Tsuchiya, Kuniaki
    Akiyama, Haruhiko
    ANNALS OF NEUROLOGY, 2008, 64 (01) : 60 - 70
  • [38] "STRESSED OUT": The role of FUS and TDP-43 in amyotrophic lateral sclerosis
    Aksoy, Yagiz Alp
    Deng, Wei
    Stoddart, Jack
    Chung, Roger
    Guillemin, Gilles
    Cole, Nicholas James
    Neely, Graham Gregory
    Hesselson, Daniel
    INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 2020, 126
  • [39] A Commentary on TDP-43 and DNA Damage Response in Amyotrophic Lateral Sclerosis
    Mitra, Joy
    Hegde, Muralidhar L.
    JOURNAL OF EXPERIMENTAL NEUROSCIENCE, 2019, 13
  • [40] Olfactory dysfunction related to TDP-43 pathology in amyotrophic lateral sclerosis
    Takeda, Takahiro
    Uchihara, Toshiki
    Kawamura, Shunji
    Ohashi, Takashi
    CLINICAL NEUROPATHOLOGY, 2014, 33 (01) : 65 - 67