Article
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Archives italiennes de biologie - 1 Dec 2017
Campopiano Rosa, Ryskalin Larisa, Giardina Emiliano, Zampatti Stefania, Busceti Carla L, Biagioni Francesca, Ferese Rosangela, Storto Marianna, Gambardella Stefano, Fornai Francesco
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is fatal neurodegenerative disease clinically characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease, and over the last decade, identification of mutations in about 20 genes predisposing to these disorders...
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