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Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

✍ Scribed by Donella Gestri; Cristina Cecchi; Andrea Tedde; Stefania Latorraca; Antonio Orlacchio; Enrico Grassi; Anna Maria Massaro; Gianfranco Liguri; Peter H St. George-Hyslop; Sandro Sorbi


Book ID
117470935
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
118 KB
Volume
289
Category
Article
ISSN
0304-3940

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πŸ“œ SIMILAR VOLUMES


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