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P3-287: TDP-43 A315T mutation in familial motor neuron disease

✍ Scribed by Gitcho, Michael A.; Baloh, Robert H.; Chakraverty, Sumi; Mayo, Kevin; Norton, Joanne B.; Levitch, Denise; Hatanpaa, Kimmo J.; White, Charles H.; Bigio, Eileen H.; Caselli, Richard; Baker, Matt; Al-Lozi, Muhammad T.; Morris, John C.; Pestronk, Alan; Rademakers, Rosa; Goate, Alison M.; Cairns, Nigel J.


Book ID
122013126
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
71 KB
Volume
4
Category
Article
ISSN
1552-5260

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TDP-43 A315T mutation in familial motor
✍ 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