Article
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Journal of negative results in biomedicine - 29 May 2006
Conforti Francesca Luisa, Sprovieri Teresa, Mazzei Rosalucia, Ungaro Carmine, Tessitore Alessandro, Tedeschi Gioacchino, Patitucci Alessandra, Magariello Angela, Gabriele Annalia, Labella Vincenzo, Simone Isabella Laura, Majorana Giovanni, Monsurrò Maria Rosaria, Valentino Paola, Muglia Maria, Quattrone Aldo
Abstract excerpt
Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to...
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