TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
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Author / Creator
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 and Rouleau, Guy A
Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals—six from individuals with sporadic ALS (SALS) and three from those with familial ALS...
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Full title
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
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TN_cdi_proquest_miscellaneous_69156067
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69156067
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.132
