McDermott CJ, Shaw PJ. Diagnosis and management of motor neurone disease. BMJ. 2008;336:658–62. doi:10.1136/bmj.39493.511759.BE.
Article
PubMed Central
PubMed
Google Scholar
Chio A, Mora G, Calvo A, Mazzini L, Bottacchi E, Mutani R. Epidemiology of ALS in Italy: a 10-year prospective study. Neurology. 2009;72:725–31. doi:10.1212/01.wnl.0000343008.26874.d1.
Article
CAS
PubMed
Google Scholar
Johnston CA, Stanton BR, Turner MR, Gray R, Blunt AH, Butt D, et al. ALS in an urban setting: a population based study of inner city London. J Neurology. 2006;253:1642–43.
Article
Google Scholar
Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010;9:995–1007.
Article
CAS
PubMed
Google Scholar
Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, et al. Rate of familial ALS: a systematic review and metanalysis. J Neurol Neurosurg Psychiatry. 2011;82:623–7. doi:10.1136/jnnp.2010.224501.
Article
PubMed
Google Scholar
Byrne S, Heverin M, Elamin M, Bede P, Lynch C, Kenna K, et al. Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis. Ann Neurol. 2013;74:699–708. doi:10.1002/ana.23969.
Article
PubMed
Google Scholar
Lill CM, Abel O, Bertram L, Al-Chalabi A. Keeping up with the genetic discoveries in ALS: The ALSoD and ALSGene database. ALS. 2011;12:238–49. doi:10.3109/17482968.2011.584629.
Google Scholar
Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered. 2011;71:281–88. doi:10.1159/000330167.
Article
PubMed
Google Scholar
Factor-Litvak P, Al-Chalabi A, Ascherio A, Bradley W, Chío A, Garruto R, et al. Current pathways for epidemiological research in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14 Suppl 1:33–43. doi:10.3109/21678421.2013.778565.
Article
PubMed
Google Scholar
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(5):293–9.
Article
CAS
PubMed
Google Scholar
Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992;115(Pt 2):495–520.
Article
PubMed
Google Scholar
Gordon PH, Cheng B, Katz IB, Pinto M, Hays AP, Mitsumoto H, et al. The natural history of primary lateral sclerosis. Neurology. 2006;66(5):647–53.
Article
CAS
PubMed
Google Scholar
The Data Protection Act 1998, National Archives, http://www.legislation.gov.uk/ukpga/1998/29/contents.
Hedges DJ, Walker JA, Callinan PA, Shewale JG, Sinha SK, Batzer MA. Mobile element-based assay for human gender determination. Anal Biochem. 2003;312:77–9.
Article
CAS
PubMed
Google Scholar
Blick D, Cooper J, Baker N, Bracegirdle P, Biggins J, Burnet W. Generation of cell lines using Epstein-Barr Virus (EBV) transformation of small volumes of cryo-preserved whole blood and the use of bench-top flow cytometry to achieve high and reproducible success rates. http://www.nature.com/app_notes/nmeth/2011/111312/pdf/an8194.pdf.
Alonso A, Logroscino G, Jick SS, Hernan MA. Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population based study. Eur J Neurol. 2009;16:745–51.
Article
CAS
PubMed Central
PubMed
Google Scholar
Herbeck JT, Gottlieb GS, Wong K, Detels R, Phair JP, Rinaldo CR, et al. Fidelity of SNP array genotyping using Epstein Barr virus-transformed B-lymphocyte cell lines: implications for genome-wide association studies. PLoS One. 2009;4(9), e6915. doi:10.1371/journal.pone.0006915.
Article
PubMed Central
PubMed
Google Scholar
Åberg K, Khachane AN, Rudolf G, Nerella S, Fugman DA, Tischfield JA, et al. Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines. Eur J Hum Genet. 2012;20(9):953–5. doi:10.1038/ejhg.2012.33. Epub 2012 Feb 29.
Article
PubMed Central
PubMed
Google Scholar
Pamphlett R. Somatic mutation: a cause of sporadic neurodegenerative diseases? Med Hypotheses. 2004;62(5):679–82.
Article
CAS
PubMed
Google Scholar
The International Cell Line Authentication Committee (ICLAC) website: http://iclac.org/.
Shutanov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010;9(10):986–94. doi:10.1016/S1474-4422(10)70197-6.
Article
Google Scholar
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013;21(1):102–8. doi:10.1038/ejhg.2012.98.
Article
CAS
PubMed Central
PubMed
Google Scholar
Van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, et al. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging. 2013;34(5):1517.e5–7. doi:10.1016/j.neurobiolaging.2012.07.020.
Article
Google Scholar
Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, et al. Residual association at C9orf72 suggests and alternative ALS causing hexanucelotide repeat. Neurbiol Aging. 2013;34(9):2234.e1–7. doi:10.1016/j.neurobiolaging.2013.03.003.
Article
CAS
Google Scholar
Mok K, Laaksovirta H, Tienari PJ, Peuralinna T, Myllykangas L, Chiò A, et al. Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet. 2013;12:1429–35. doi:10.1038/ejhg.2013.59.
Article
Google Scholar
Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, et al. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridization. Mol Neurodegener. 2013;8:12. doi:10.1186/1750-1326-8-12.
Article
CAS
PubMed Central
PubMed
Google Scholar
Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, et al. Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72. J Neurol Neurosurg Psychiatry. 2013;84(1):79–87. doi:10.1136/jnnp-2012-303326.
Article
PubMed
Google Scholar
Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, et al. C9ORF72 transcription in frontotemporal dementia case with two expanded alleles. Neurology. 2013;81(19):1719–21. doi:10.1212/01.wnl.0000435295.41974.2e.
Article
PubMed Central
PubMed
Google Scholar
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, et al. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 23(8): 2220-31. doi:10.1093/hmg/ddt587.
Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ, et al. No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet. 2014;23(7):1916–22. doi:10.1093/hmg/ddt574.
Article
CAS
PubMed Central
PubMed
Google Scholar
Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, et al. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis Ann Neurol 76(1):120-33. doi:10.1002/ana.24198.
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, et al. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron. 2014;84(2):324–31. doi:10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.
Article
CAS
PubMed
Google Scholar
The European Genome-Phenome archive website: https://www.ebi.ac.uk/ega/home.
The Project MinE website: https://www.projectmine.com/.
Savage AL, Wilm TP, Khursheed K, Shatunov A, Morrison KE, Shaw PJ, et al. An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS. PLoS One. 2014;9(6), e90833. doi:10.1371/journal.pone.0090833. eCollection 2014.
Article
PubMed Central
PubMed
Google Scholar
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, et al. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain. 2014;137(Pt 7):2040–51. doi:10.1093/brain/awu120.
Article
PubMed Central
PubMed
Google Scholar
Thomas SM, Kagan C, Pavlovic BJ, Burnett J, Patterson K, Pritchard JK, et al. Reprogramming LCLs to iPSCs Results in Recovery of Donor-Specific Gene Expression Signature. See comment in PubMed Commons below. PLoS Genet. 2015;11(5), e1005216. doi:10.1371/journal.pgen.1005216. eCollection 2015.
Article
PubMed Central
PubMed
Google Scholar
ALScience website: http://www.alscience.it/#v339.
Atsuta N, Nakamura R, Watanabe H, Sobue G. Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Brain Nerve. 2014;66(9):1090–6.
PubMed
Google Scholar
The MND Association Website: http://www.mndassociation.org/dnabank.