Antonio Orlacchio Carla Babalini Antonella Borreca Clarice Patrono Roberto Massa Sarenur Basaran Renato P Munhoz Ekaterina A Rogaeva Peter H St George-Hyslop Giorgio Bernardi Toshitaka Kawarai
10.1093/brain/awp325
Brain
2010 Feb;133(Pt 2):591-8.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20110243/
Amyotrophic Lateral Sclerosis / genetics Mutation / genetics Proteins / genetics
Amyotrophic Lateral Sclerosis / genetics Mutation / genetics Proteins / genetics Case Reports Comparative Study Research Support, Non-U.S. Gov't Adult Age Factors Amyotrophic Lateral Sclerosis / diagnosis Female Genes, Recessive / genetics Humans Male Middle Aged Pedigree Proteins SPG11 protein, human
PMC2822627
20110243
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
2010