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Short Note

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

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Pages 58-60 | Published online: 10 Jul 2009

References

  • Andersen PM, Nilsson P, Ala-Hurula V, Keränen ML, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nat Genet. 1995; 10: 61–6
  • Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord. 2001; 11: 404–10
  • Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicentre Italian study. J Neurol. 2005; 252: 782–8
  • Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002; 20: 473

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