State of play in amyotrophic lateral sclerosis genetics
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/nn.3584.pdf
Reference100 articles.
1. Rowland, L.P. & Shneider, N.A. Amyotrophic lateral sclerosis. N. Engl. J. Med. 344, 1688–1700 (2001).
2. Rosen, D.R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993). This study was the first to identify a genetic cause of familial ALS.
3. Sreedharan, J. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668–1672 (2008). This study identified mutations in TARDBP , which encodes the TDP-43 protein, as a cause of familial ALS.
4. Deng, H.X. et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211–215 (2011).
5. Johnson, J.O. et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857–864 (2010). This study was the first to apply exome sequencing to identify a genetic cause of familial ALS and represents an initial step in unraveling the genetic overlap between ALS and FTD.
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