Article
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.
Journal of neurology - 1 Dec 2014
Syriani Enrique, Salvans Candi, Salvadó Maria, Morales Miguel, Lorenzo Laura, Cazorla Sonia, Gamez Josep
Abstract excerpt
Evidence of genetic heterogeneity in ALS has been found, with at least 31 genes being identified to date as causing ALS, and other genes being suggested as risk factors for susceptibility to the disease and for phenotype modifications. In recent years, new molecular genetic methodologies, especially GWAS and exome sequencing, have contributed to the identification of new ALS genes. Some of these genes (SOD1,...
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