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A Pathogenic Peripherin Gene Mutation in a Patient with Amyotrophic Lateral Sclerosis

✍ Scribed by Conrad L. Leung; Cui Zhen He; Petra Kaufmann; Steven S. Chin; Ali Naini; Ronald K. H. Liem; Hiroshi Mitsumoto; Arthur P. Hays


Book ID
111404272
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
425 KB
Volume
14
Category
Article
ISSN
1015-6305

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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