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SHORT REPORT

Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis

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Pages 570-572 | Received 23 Mar 2012, Accepted 15 Apr 2012, Published online: 07 Jun 2012

References

  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, . Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • Inoue K, Fujimura H, Ogawa Y, Satoh T, Shimada K, Sakoda S. Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase-1 gene: a clinicopathological study. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:244–7.
  • Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. Neurosci Lett. 1999;276:135–7.
  • Lindberg MJ, Bystrom R, Boknas N, Andersen PM, Oliveberg M. Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants. Proc Natl Acad Sci U S A. 2005;102:9754–9.

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