Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first path...

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Main Authors: Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, Jennifer M Gass, Nicole A Finch, Ya-Fei Xu, Heather Stewart, Brendan J Kelley, Karen Kuntz, Richard J P Crook, Jemeen Sreedharan, Caroline Vance, Eric Sorenson, Carol Lippa, Eileen H Bigio, Daniel H Geschwind, David S Knopman, Hiroshi Mitsumoto, Ronald C Petersen, Neil R Cashman, Mike Hutton, Christopher E Shaw, Kevin B Boylan, Bradley Boeve, Neill R Graff-Radford, Zbigniew K Wszolek, Richard J Caselli, Dennis W Dickson, Ian R Mackenzie, Leonard Petrucelli, Rosa Rademakers
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2527686?pdf=render