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TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report

✍ Scribed by N. J. Cairns; R. J. Perrin; R. E. Schmidt; A. Gru; K. G. Green; D. Carter; L. Taylor-Reinwald; J. C. Morris; M. A. Gitcho; R. H. Baloh

Book ID
110852729
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
677 KB
Volume
36
Category
Article
ISSN
0305-1846

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TDP-43 A315T mutation in familial motor
TDP-43 A315T mutation in familial motor neuron disease
✍ Michael A. Gitcho; Robert H. Baloh; Sumi Chakraverty; Kevin Mayo; Joanne B. Nort πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 239 KB πŸ‘ 1 views

## Abstract To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to investigate __TDP‐43__ as a candidate gene in familial cases of motor neuron disease. Sequencing of the __TDP‐43__ gene led to the