Genetic and epigenetic study of ALS-discordant identical twins with double mutations inSOD1andARHGEF28

Identical twins with the C9orf72 repeat expansion are discordant for ALS

(2014) Z. Xi et al.   NEUROLOGY

ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort

(2014) Yan Ma et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis

(2013) Cristian A. Droppelmann et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

(2012) Paola Origone et al.   Amyotrophic Lateral Sclerosis

A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis

(2011) Michela Visani et al.   Amyotrophic Lateral Sclerosis