The importance of the SMN genes in the genetics of sporadic ALS.

@article{Corcia2009TheIO,
  title={The importance of the SMN genes in the genetics of sporadic ALS.},
  author={Philippe Corcia and William Camu and Julien Praline and Paul H. Gordon and Patrick Vourch and C. R. Andres},
  journal={Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases},
  year={2009},
  volume={10 5-6},
  pages={436-40}
}
The human genome contains two SMN (survival motor neuron) genes: SMN1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (SMA), and SMN2, the centromeric version whose copy number modulates the phenotype of SMA. We performed a Medline search and reviewed all of the publications that focus on SMN1 and SMN2 in amyotrophic lateral sclerosis (ALS) to analyse whether these genes also act as risk factors or phenotypic modulators in ALS. While homozygous deletion of SMN1 was… CONTINUE READING
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