Singleton Laboratory Unit - Publications

• Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress response protein prkra., Lancet Neurology 7, 207-215.

• Melzer D, Perry JRB, Hernandez D, Corsi A-M, Stevens K, Raffety I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Paniker V, Dayan C, Bennet A, McCarthy M, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucc (2008) A genome wide association study identifies protein quantitative trait loci (pQTLs)., PLoS Genetics 4, e1000072.

• Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Dutra A, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson S, Singleton AB, Lee MK, Rapoport JL, King M-C, Seba (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia., Science 302, 539-43.

• Matarin M, Simon-Sanchez J, Fung H-C, Scholz S, Gibbs JR, Hernandez D, Crews C, Britton A, Wavrant De Vrieze F, Brott TG, Brown Jr RD, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton A (2008) Structural genomic variation in ischemic stroke. Neurogenetics., DOI 10, 1007/s10048-008-0119-3.

• Mochel F, Knight MA, Tong W-H, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG (2008) Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance., American Journal of Human Genetics 82(3), 652-60.

• Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung H-C, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez D, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB (2008) Genotype, haplotype, and copy number variation in worldwide human populations., Nature 451, 998-1003.

• Pais�n-Ruίz C, Nath P, Washecka N, Gibbs JR, Singleton AB (2008) Comprehensive analysis of LRRK2 in a publicly available cohort of Parkinson�s disease cases and neurologically normal controls., Human Mutation. 29(4), 485-90.

• Matarin M, Brown WM, Scholz S, Simon-Sanchez J, Fung H-C, Hernandez D, Gibbs JR, Wavrant De Vrieze F, Crews C, Britton A, Langefeld C, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF (2007) Initial analysis and data release of a genome-wide SNP association study in ischemic stroke., Lancet Neurology 6(5), 414-420.

• van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung H-C, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Rafferty I, Hardy J, Storey E, McKinlay Gardner RJ, Forrest SM, Fisher EMC, Russell JT, Cai H, Singleton AB (2007) Deletion at ITPR1 underlies ataxia in mice and humans (SCA15). , PLoS Genetics 6, e108.

• Simon-Sanchez J, Scholz S, Fung H-C, MatarinM, Hernandez D, Gibbs JR, Britton A, Wavrant de Vrieze F, Peckham E, Gwinn-Hardy K, Crawley A, Keen J, Nash J, Borgaonkar D, Hardy J and Singleton A (2007) Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals., Human Molecular Genetics 16, 1-14.

• Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P and Wood NW (2007) Tau tubulin kinase 2, implicated in tau phosphorylation, contains mutations that segregate with spinocerebellar ataxia type 11., Nature Genetics 39(12), 1434-6.

• Schymick J, Scholz SW, Fung H-C, Britton A, Arepelli S, Gibbs JR, Lombardi F, Matarin M, Kasperaviciute D, Crews C, Bruijn L, Rothstein J, Restagno G, Chi� A, Singleton A, Hardy J, Traynor BJ (2007) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls., Lancet Neurology 6(4), 322-8.

• Bras JM, Paisan-Ruiz C, Guerreiro RJ, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A (2007) Complete screening for glucocerebrosidase mutations in parkinson disease patients from Portugal., Neurobiology of Aging.

• Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V, Hellstrom O, Chen CM, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou G, Hardy J, Singleton A (2006) Association of Tau haplotype tagging polymorphisms with Parkinson�s disease in diverse ethnic cohorts., Neurodegenerative Diseases 3(6), 327-33.

• Greggio E, Jain S, Kingsbury A, Bandopadhyay R, Lewis PA, Kaganovich A, van der Brug MP, Beilina A, Blackinton J, Thomas KJ, Ahmad R, Miller DW, Kesavapany S, Singleton A, Lees A, Harvey RJ, Harvey K, Cookson M (2006) Kinase activity is required for the toxic effects of mutant LRRK2/dardarin., Neurobiology of Disease 23(2), 329-41.

• Fung H-C, Scholz S, Matarin M, Simon-Sanchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun M, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Peckham E, Wavrant De Vrieze F, Gwinn-Hardy K, Hardy JA, Singleton AB (2006) Genome Wide Genotyping in Parkinson's Disease and Neurologically Normal Controls; First Stage Analysis and Public Release of Data., Lancet Neurology 5, 911-16.

• Garcia M, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland D (2006) Mutations in neurofilament genes are not a significant primary cause of non-SOD1 mediated amyotrophic lateral sclerosis., Neurobiology of Disease 21(1), 102-9.

• Pais�n-Ruίz C, Evans EW, Jain S, Xiromerisiou G, Gibbs JR, Eerola J, Gourbali V, Hellstr�m O, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou GM, Singleton AB (2006) Testing association between LRRK2 and Parkinson�s disease and investigating linkage disequilibrium., Journal of Medical Genetics 43, e09.

• Hadjigeorgiou GM, Xiromerissiou G, Gourbali V, Aggelakis K, Scarmeas N, Papadimitriou A, Singleton A (2006) Association of alpha-synuclein Rep1 polymorphism and Parkinson�s disease: influence of Rep1 on age at onset., Movement Disorders 21(4), 534-9.

• Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy D, Gilks W, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW (2005) Mutations in the gene (LRRK2) encoding dardarin (PARK8) causing familial Parkinson�s disease in a British kindred: clinical, pathological, olfactory and functional imaging data., Brain 128(Pt 12), 2786-96.

• Hernandez D, Pais�n-Ruίz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schaffer A, Lopez G, Nussbaum RL, Singleton AB (2005) Clinical and positron emission tomography of Parkinson�s disease caused by LRRK2., Annals of Neurology 57, 453-456.

• Nichols, WC, Pankratz N, Pais�n-Ru�z C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, and the Parkinson Study Group (2005) A single LRRK2 mutation accounting for greater than 5% of familial Parkinson disease., The Lancet 365, 410-12.

• Gilks WP, Abou-Sleiman P, Gandhi S, Jain S, Singleton A, Lees A, Bhatia K, Bonifati V, Quinn N, Lynch J, Healy D, Holton J, Revesz T and Wood NW (2005) A common LRRK2 mutation in idiopathic Parkinson�s disease., The Lancet 365, 415-16.

• Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A (2005) Mutations in LRRK2 are a common cause of Parkinson�s disease in a Portuguese cohort., Movement Disorders 20(12), 1653-5.

• Miller D, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy JH, Dogu O (2005) Unaltered a-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion., Neuroscience Letters 374, 189-191.

• Nichols W, Pankratz N et al. (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease , Lancet 365, 410-12.

• Bras JM, Guerreiro RJ et al (2005) G2019s dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort, Movement Disorders.

• Clarimon J, Johnson J et al (2005) Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period, Movement Disorders 20, 887-890.

• Hernandez DG, Paisan-Ruiz C et al (2005) Clinical and positron emission tomography of Parkinson's disease caused by LRRK2, Annals of Neurology 57, 453-456.

• Singleton A, Hague S, Hernandez D. (2004) X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3)., Adv Neurol 94, 139-42.

• Paisan-Ruiz C, Jain S et al (2004) Cloning of the gene that Causes PARK8 linked Parkinson's disease, Neuron.

• Pais�n-Ruίz C, Jain S, Evans EW, Gilks WP, Sim�n J, van der Brug M, L�pez de Munain A, Aparicio S, Mart�nez Gil A, Khan N, Johnson J, Ruiz Martinez J, Nicholl D, Marti Carrera I, Sa�nz Peňa A, de Silva R, Lees A, F�lix Mart�-Mass� J, P�rez-Tur J, Wood NW and Singleton AB (2004) Cloning of the gene containing mutations that cause PARK-8 linked Parkinson�s disease., Neuron 44, 595-600.

• Miller D, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, Cookson MR, Singleton AB (2004) a-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication., Neurology 62, 1835-1838.

• Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J and Gwinn-Hardy K (2003) a-Synuclein Locus Triplication Causes Parkinson Disease., Science 302, 841.

• Singleton A et al (2003) alpha-synculein locus triplication causes Parkinson's disease, Science.

• Hardy J, Singleton A, Gwinn-Hardy K (2003) Ethnic Differences and Disease Phenotypes , Science 300, 739-740.

• Hardy J, Cookson M and Singleton A (2003) Genes and Parkinsonism, Lancet Neurology 2, 221-228.

• Eerola J, Hernandez D, Launes J, Hellstrom O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. (2003) Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD., Neurology 61, 1000-1002.

• Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. (2003) Mutation at the SCA17 locus is not a common cause of parkinsonism., Parkinsonism Relat Disord. 9, 317-320.

• Hardy J, Cookson MR, Singleton A. (2003) Genes and parkinsonism, Lancet Neurology 2, 221-224.

• Payami H, Nutt J, Gancher S, Bird T, Gonzales McNeal M, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton A, Singleton AB, Hardy J, Farrer M. (2003) SCA2 may present as levodopa-responsive parkinsonism, Movement Disorders 18, 425-429.

• Hardy J, Singleton A, Gwinn-Hardy K. (2003) Ethnic differences and disease phenotypes, Science 300, 739-740.

• Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003) Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation., Annals of Neurology 54, 271-274.

• Evidente VGH et al. (2002) X-linked dystonia (�Lubag�) presenting predominantly with parkinsonism: A more benign phenotype?, Movement Disorders 17, 200-202.

• Subramony SH et al (2002) Ethnic Differences in the Expression of Neurodegenerative Disease: Machado-Joseph Disease in Africans and Caucasians, Movement Disorders 17, 1068-71.

• Gwinn-Hardy et al (2001) Spinocerebellar ataxia type 3 in blacks presenting as Parkinson's disease. Archives of Neurology, Archives of Neurology 58, 296-299.

• Farrer et al (2001) alpha-Synuclein Gene Haplotypes are Associated with Parkinson�s Disease, Human Molecular Genetics 10, 1847-1851.

• Singleton et al. (2000) Pathological Phenotype of Familial Early Onset Alzheimer�s Disease Cases Bearing an Insertion Mutation Thr113-114ins in the Presenilin-1 Gene, Brain 123, 2467-74.

• Hardy J, Singleton A (2000) The Future of Genetic Analysis of Neurological Disorders, Neurobiology of Disease 7, 65-69.