High frequency of TARDBP gene mutations
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Lucia Corrado; A. Ratti; C. Gellera; E. Buratti; B. Castellotti; Y. Carlomagno;
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Article
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2009
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John Wiley and Sons
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English
β 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