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TARDBP mutation frequency in Scandinavian amyotrophic lateral sclerosis patients

✍ Scribed by Caroline Graff; Huei-Hsin Chiang; Peter M. Andersen


Book ID
118466378
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
54 KB
Volume
6
Category
Article
ISSN
1552-5260

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High frequency of TARDBP gene mutations
✍ Lucia Corrado; A. Ratti; C. Gellera; E. Buratti; B. Castellotti; Y. Carlomagno; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 183 KB

Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)-43, the major protein of the ubiquitinated inclusions (UBIs) found in affected motor neurons (MNs). The aim of this study was to further define