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Article

<i>TDP</i> ‐ <i>43</i> mutation in familial amyotrophic lateral sclerosis

1 Apr 2008

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating evidence has shown that 43kDa TAR-DNA-binding protein (TDP-43) is the disease protein in ALS and frontotemporal lobar degeneration. We previously reported a familial ALS with Bumina bodies and TDP-43-positive skein-like inclusions in the lower motor neurons; these findings are indistinguishable from those of sporadic ALS. In...

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PMID: 18438952
DOI: 10.1002/ana.21392

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