References
- Robberecht W. Genetics of amyotrophic lateral sclerosis. J Neurol 2000; 246: 2–6.
- Jacobson J, Jonsson PA, Anderson PM et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn-superoxide dismutase mutations. Brain 2001; 124: 1461–1466.
- Juneja T, Pericak-Vance MA, Laing NG et al. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu/Zn superoxide dismutase. Neurology 1997; 48: 55–57.
- Mase` G, Ros S, Gemma A et al. ALS with variable phenotypes in a six-generation family caused by Leu144Phe mutation in the SOD1 gene. J Neurol Sci 2001; 191: 11–18.
- Penco S, Schenone A, Bordo D et al. A SOD1 gene mutation in a patient with slowly progressing familial ALS. Neurology 1999; 53: 404–406.Erratum in: Neurology 2001; 57:1146.
- Deng H-X, Hentati A, Tainer JA et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science 1993; 261: 1047–1051.
- Parge HE, Hallewell RA, Tainer JA. Atomic structures of wild-type and thermostable mutant recombinant human Cu/Zn superoxide dismutase. Proc Nat Acad Sci USA 1992; 89: 6109–6113.
- Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996; 61: 556–572.
- Orrell RW. Amyotrophic lateral sclerosis: Cu/Zn superoxide dis- mutase(SOD1)genemutations.NeuromusculDisord2000;10:63–68.
- Ohi T, Saita K, Takechi S et al. Clinical features and neuro- pathological findings of amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci 2002; 197: 73–78.
- Segovia-Silvestre T, Vives-Bauza C, Garcia-Arumi E et al. A novel exon 3 mutation in the SOD1 gene associated with slowly progressive ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2002; 3: 69–74.
- Giess R, Holtmann B, Braga M et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 2002; 70: 1277–1286.
- Pouget J, Trefouret S, Attarian S. Trasncranial magnetic stimula- tion (TMS): compared sensitivity of different motor response parameters in ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1 (Suppl 2): S45–49.
- Weber M, Eisen A, Stewart HG, Andersen PM. Preserved slow conducting corticomotoneuronal projection in amyotrophic lateral sclerosis with autosomal recessive D90A Cu/Zn super- oxide dismutase mutation. Brain 2000; 123: 1505–1515.
- Okado-Matsumoto A, Fridovich I. Amyotrophic lateral sclerosis: a proposed mechanism. Proc Nat Acad Sci USA 2002; 99: 9010–9014.