The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

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Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - December 20, 2019 Category: Neurology Authors: Lucia Corrado Viviana Pensato Roberta Croce Alice Di Pierro Simona Mellone Eleonora Dalla Bella Ettore Salsano Elvezia Maria Paraboschi Mara Giordano Massimo Saraceno Letizia Mazzini Cinzia Gellera Sandra D ’Alfonso Source Type: research