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.
- Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, . A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet. 2001;29:166–73.
- Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, . The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001;29:160–5.
- Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, . Mutant dynactin in motor neuron disease. Nat Genet. 2003;33:455–6.
- Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, . A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004;75:822–31.
- Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, . ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology. 2006;67:1074–7.
- Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, . ANG mutations segregate with familial and sporadic amyotrophic lateral sclerosis. Nat Genet. 2006; 38:411–3.
- Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, . TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008;40:572–4.
- Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, . Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205–8.
- Vance C, Rogelj B, Hortobágyi T, de Vos KJ, Nishimura AL, Sreedharan J, . Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208–11.
- Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet. 2009;10:769–82.
- Alexander MD, Traynor BJ, Miller N, Corr B, Frost E, McQuaid S, . ‘True’ sporadic ALS associated with a novel SOD1 mutation. Ann Neurol. 2002;52:680–3.
- Chiò A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, . A de novo missense mutation of the FUS gene in a ‘true’ sporadic ALS case. Neurobiol Aging. 2011;32: 553.e23−6.
- DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, . Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72: 245–56.
- Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, . A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
- Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, . Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012; 11:323–30.
- Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, . Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature. 2011;477:211–5.
- Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, . Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010;465:223–6.
- Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, . Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32:555.e13−4.
- Del Bo R, Tiloca C, Pensato V, Corrado L, Ratti A, Ticozzi N, . Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2011;82:1239–43.
- Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, . Optineurin mutations in Japanese amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2012;83: 233–5.
- Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, . Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32: 557.e11−3.
- Sugihara K, Maruyama H, Kamada M, Morino H, Kawakami H. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population. Neurobiol Aging. 2011;32:1923.e9−10.
- Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, . Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol. 2008;65: 1326–32.
- Yoshida S, Uebayashi Y, Kihira T, Kohmoto J, Wakayama I, Taguchi S, . Epidemiology of motor neuron disease in the Kii Peninsula of Japan, 1989−1993: active or disappearing focus? J Neurol Sci. 1998;155:146–55.