Article
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Neurobiology of aging - 1 May 2014
Bertolin Cinzia, D'Ascenzo Carla, Querin Giorgia, Gaiani Alessandra, Boaretto Francesca, Salvoro Cecilia, Vazza Giovanni, Angelini Corrado, Cagnin Annachiara, Pegoraro Elena, Sorarù Gianni, Mostacciuolo Maria Luisa
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is as an adult-onset neurodegenerative disorder involving both upper and lower motor neurons. About 5% of all cases exhibit signs of frontotemporal degeneration (FTD). We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and 73 patients affected with FTD, all originating from the...
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