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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: singleton a. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Genes and parkinsonism.
Hardy J, Cookson MR, Singleton A. Hardy J, et al. Among authors: singleton a. Lancet Neurol. 2003 Apr;2(4):221-8. doi: 10.1016/s1474-4422(03)00350-8. Lancet Neurol. 2003. PMID: 12849210 Review.
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A. Fung HC, et al. Among authors: singleton a. Lancet Neurol. 2006 Nov;5(11):911-6. doi: 10.1016/S1474-4422(06)70578-6. Lancet Neurol. 2006. PMID: 17052657
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ. Schymick JC, et al. Among authors: singleton a. Lancet Neurol. 2007 Apr;6(4):322-8. doi: 10.1016/S1474-4422(07)70037-6. Lancet Neurol. 2007. PMID: 17362836
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD Jr, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF. Matarín M, et al. Among authors: singleton a. Lancet Neurol. 2007 May;6(5):414-20. doi: 10.1016/S1474-4422(07)70081-9. Lancet Neurol. 2007. PMID: 17434096 Free PMC article.
Genomewide SNP assay reveals mutations underlying Parkinson disease.
Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Simon-Sanchez J, et al. Among authors: singleton a. Hum Mutat. 2008 Feb;29(2):315-22. doi: 10.1002/humu.20626. Hum Mutat. 2008. PMID: 17994548
Genetic variability in CLU and its association with Alzheimer's disease.
Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J. Guerreiro RJ, et al. Among authors: singleton a. PLoS One. 2010 Mar 3;5(3):e9510. doi: 10.1371/journal.pone.0009510. PLoS One. 2010. PMID: 20209083 Free PMC article.
1,004 results