Ontology highlight
ABSTRACT:
SUBMITTER: Rabin SJ
PROVIDER: S-EPMC2796893 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Rabin Stuart J SJ Kim Jae Mun Hugo JM Baughn Michael M Libby Ryan T RT Kim Young Joo YJ Fan Yuxin Y Libby Randell T RT La Spada Albert A Stone Brad B Ravits John J
Human molecular genetics 20091028 2
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive weakness from loss of motor neurons. The fundamental pathogenic mechanisms are unknown and recent evidence is implicating a significant role for abnormal exon splicing and RNA processing. Using new comprehensive genomic technologies, we studied exon splicing directly in 12 sporadic ALS and 10 control lumbar spinal cords acquired by a rapid autopsy system that processed nervous systems specifical ...[more]