References
- Majoor-Krakauer D, Willems PJ, Hoffman A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet. 2003;63:83–101.
- Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001;344:1688–700.
- Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J, et al. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4:62–73.
- Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, et al. A new approach for identifying non- pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Hum Genet. 2000;106:172–8.
- Wen-Chung Lee. Genetic association studies of adult-onset diseases using the case-spouse and case-offspring designs. American J Epidemiol. 2003;158:1023–32.
- Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat. 2001;17:439–74.
- Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on motor neuron disease/amyotrophic lateral sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ‘Clinical limits of amyotrophic lateral sclerosis’ workshop contributors. J Neurol Sci. 1994;124:96–107.
- 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 diag- nosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
- Huber CG, Oefner PJ, Bonn GK. High-resolution liquid chromatography of oligonucleotides on non-porous alkylated styrene-divinilbenzene copolymers. Anal Biochem. 1993;212:351–8.
- Rosenblum BB, Lee LG, Spurgeon SL, Khan SH, Menchen SM, Heiner CR, Chen SM. New dye-labelled terminators for improved DNA sequencing patterns. Nucleic Acids Res. 1997;25:4500–4.
- Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci. USA. 1977;74:5463–7.
- Andersen PM, Restagno G, Stewart HG, Chio` A. Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene. Annals of Neurology. 2004; 55:298–9.
- Shaw PJ, Tomkins J, Slade JY, Usher P, Curtis A, Bushby K, Ince PG. CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neuron disease (MND). Neuroreport. 1997;8:3923–7.
- Ince PG, Tomkins J, Slade JW, Thatcher NM, Shaw PJ. Amyotrophic lateral sclerosis associated with genetic abnorm- alities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol. 1998;57:895–904.
- King K, Flinter FA, Nihalani V, Green PM. Unusual deep intronic mutations in the COL4A5 gene cause X-linked Alport syndrome. Hum Genet. 2002;111:548–54.
- Kawata A, Kato S, Shimizu T, Hayashi H, Hirai S, Misawa H, Takahashi R. Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts. Neuroreport. 2000;11:2649–53.