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High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

✍ Scribed by S Orrù; E Manolakos; N Orrù; H Kokotas; V Mascia; C Carcassi; MB Petersen

Book ID
110889258
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
586 KB
Volume
81
Category
Article
ISSN
0009-9163

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High frequency of TARDBP gene mutations
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
✍ Lucia Corrado; A. Ratti; C. Gellera; E. Buratti; B. Castellotti; Y. Carlomagno; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 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