References
- Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
- Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, . Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2010. (Epub ahead of print)
- Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler. 2009;10:1–14.
- Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, . Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65–82.
- Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, . SOD1 missense mutation in an Italian family with ALS. Neurology. 1994;44:347–9.
- Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, . SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicentre Italian study. J Neurol. 2005;252:782–8.
- Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, del Corona A, . G41S SOD1 mutation: a common ancestor for six ALS Italian families with an aggressive phenotype. Amyotroph Lateral Scler. 2010;11:210–5.
- Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
- Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, . SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010;47: 554–60.
- Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, Al-Chalabi A, . SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia. NeurosciLett. 2008;430:241–5.
- Broom WJ, Johnson DV, Garber M, Andersen PM, Lennon N, Landers J, . DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS. Neurosci Lett. 2009;463:64–9.
- Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, . Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. 2009;72:1634–9.
- Andersen PM, Restagno G, Stewart HG, Chio` A. Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene. Ann Neurol. 2004;55:298–9.
- Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, . Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009;106: 21777–82. Epub 2009, Dec 9.
- Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, . 50-bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2008;9:229–37.
- Prudencio M, Hart J, Borchelt DR, Andersen PM. Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. Hum Mol Genet. 2009;18:3217–26.
- van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;81: 562–6.
- Forsberg K, Jonsson PA, Andersen PM, Bergemalm D, Graffmo KS, Hultdin M, . Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients. PLoS One. 2010;5:11552.
- Prudencio M, Durazo A, Whitelegge JP, Borchelt DR. Modulation of mutant superoxide dismutase-1 aggregation by coexpression of wild-type enzyme. J Neurochem. 2009; 108:1009–18.
- Prudencio M, Durazo A, Whitelegge JP, Borchelt DR. An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1. Hum Mol Genet. 2010;19:4774–89.
- Bosco DA, Morfini G, Karabacak NM, Song Y, Gros-Louis F, Pasinelli P, . Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci. 2010;13:1396–403.
- Vassall KA, Stubbs HR, Primmer HA, Tong MS, Sullivan SM, Sobering R, . Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS. Proc Natl Acad Sci U S A. 2011;108:2210–5.