Publications Citing NINDS Repository Samples
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Cites Catalog ID |
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Joyce van de Leemput, PhD,1,2,3
Fabienne Wavrant-De Vrie`ze, BA,1
Ian Rafferty, BA,1 Jose M. Bras, MS,1
Paola Giunti, MD,2 Elizabeth MC Fisher, PhD,3
John A. Hardy, PhD,2 Andrew B. Singleton, PhD,1*
and Henry Houlden, MD2, Sequencing Analysis of the ITPR1
Gene in a Pure Autosomal Dominant
Spinocerebellar Ataxia Series.
Movement Disorders 25 (6):763-5 2010
PubMed ID: 20437544 View Samples |
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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease.
Annals of Human Genetics : 2010
PubMed ID: 20070850 View Samples |
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Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW, Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.
Journal of medical genetics 46:375-81 2009
PubMed ID: 19351622 |
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Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Human molecular genetics 18:1524-32 2009
PubMed ID: 19193627 View Samples |
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Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH, Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
American journal of human genetics 84:85-8 2008
PubMed ID: 19118816 View Samples |
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Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML, Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
American journal of human genetics 84:44-51 2008
PubMed ID: 19118815 |
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Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T, Parkinson Study Group-PROGENI Investigators T, Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Neurology 72:310-6 2008
PubMed ID: 18987351 |
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Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB, Lack of replication of association between GIGYF2 variants and Parkinson disease.
Human molecular genetics 18:341-6 2008
PubMed ID: 18923002 |
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Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R, Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PLoS genetics 4:e1000193 2008
PubMed ID: 18802454 View Samples |
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Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ, Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Annals of neurology 63:743-50 2008
PubMed ID: 18571778 View Samples |
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Limdi NA, Arnett DK, Goldstein JA, Beasley TM, McGwin G, Adler BK, Acton RT, Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans.
Pharmacogenomics 9:511-26 2008
PubMed ID: 18466099 View Samples |
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Simón-Sánchez J, Singleton AB, Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
Human molecular genetics 17:1988-93 2008
PubMed ID: 18364387 View Samples |
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Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, Wavrant De Vrieze F, Brott TG, Brown RD, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton AB, Structural genomic variation in ischemic stroke.
Neurogenetics 9:101-8 2007
PubMed ID: 18288507 |
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Camargos S, Scholz S, Simón-Sánchez J, Paisán-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, DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Lancet neurology 7:207-15 2008
PubMed ID: 18243799 |
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Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH, Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.
Neuroscience letters 433:65-70 2007
PubMed ID: 18242854 |
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Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB, Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
Human mutation 29:485-490 2008
PubMed ID: 18213618 |
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Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A, Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.
Movement disorders : official journal of the Movement Disorder Society 23:299-302 2007
PubMed ID: 18044725 |
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Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A, Genomewide SNP assay reveals mutations underlying Parkinson disease.
Human mutation 29:315-22 2007
PubMed ID: 17994548 |
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Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M, Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Lancet neurology 6:857-68 2007
PubMed ID: 17826340 View Samples |
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Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB, Comprehensive Screening of a North American Parkinson's Disease Cohort for LRRK2 Mutation.
Neuro-degenerative diseases 4:386-91 2007
PubMed ID: 17622782 View Samples |
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Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E, Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Molecular genetics and metabolism 91:195-200 2007
PubMed ID: 17462935 |
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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, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF, A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
Lancet neurology 6:414-20 2007
PubMed ID: 17434096 View Samples |
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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, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Lancet neurology 6:322-8 2007
PubMed ID: 17362836 View Samples |
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Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T, Parkinson Study Group - PROGENI Investigators T, R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
Movement disorders : official journal of the Movement Disorder Society 22:254-7 2006
PubMed ID: 17149721 |
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Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A, Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Human molecular genetics 16:1-14 2006
PubMed ID: 17116639 View Samples |
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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, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Lancet neurology 5:911-6 2006
PubMed ID: 17052657 View Samples |
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Li Y, Rowland C, Schrodi S, Laird W, Tacey K, Ross D, Leong D, Catanese J, Sninsky J, Grupe A, A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan.
American journal of human genetics 78:1090-2; author reply 1092-4 2006
PubMed ID: 16685663 View Samples |
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Jiang H, Jiang Q, Liu W, Feng j, Parkin Suppresses the Expression of Monoamine Oxidases.
J Biol Chem 281:8591-9 2006
PubMed ID: 16455660 View Samples |
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Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW, Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p..
Acta Neuropathol (Berl) 99(6):663-72 2000
PubMed ID: 10867800 View Samples |
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Gwinn-Hardy K, Evidente VG, Waters C, Muenter MD, Hardy J, L-dopa slows the progression of familial parkinsonism..
Lancet 353(9167):1850-1 1999
PubMed ID: 10359414 View Samples |
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Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J, A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor..
Hum Mol Genet 8(1):81-5 1999
PubMed ID: 9887334 View Samples |
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Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB, Hereditary form of parkinsonism--dementia..
Ann Neurol 43(6):768-81 1998
PubMed ID: 9629847 View Samples |
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Waters CH, Miller CA, Autosomal dominant Lewy body parkinsonism in a four-generation family..
Ann Neurol 35(1):59-64 1994
PubMed ID: 8285594 View Samples |
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NINDS Subjects Contributed to Repository |
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Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
Parkinsonism & related disorders 14:544-7 2008
PubMed ID: 18722802 |
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Landers JE, Shi L, Cho TJ, Glass JD, Shaw CE, Leigh PN, Diekstra F, Polak M, Rodriguez-Leyva I, Niemann S, Traynor BJ, McKenna-Yasek D, Sapp PC, Al-Chalabi A, Wills AM, Brown RH, A common haplotype within the PON1 promoter region is associated with sporadic ALS.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 9:306-14 2008
PubMed ID: 18618303 |
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Shinnar S, Hesdorffer DC, Nordli DR, Pellock JM, O'Dell C, Lewis DV, Frank LM, Moshé SL, Epstein LG, Marmarou A, Bagiella E, FEBSTAT Study Team E, Phenomenology of prolonged febrile seizures: results of the FEBSTAT study.
Neurology 71:170-6 2008
PubMed ID: 18525033 |
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Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K, Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.
Archives of neurology 65:467-74 2008
PubMed ID: 18413468 |
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Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I, Bailey-Wilson JE, Rouleau G, Connolly ES, Lai D, Koller DL, Huston J, Broderick JP, FIA Study Investigators JP, Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study.
Stroke; a journal of cerebral circulation 39:1434-40 2008
PubMed ID: 18323491 |
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Leslie-Mazwi TM, Brott TG, Brown RD, Worrall BB, Silliman SL, Case LD, Frankel MR, Rich SS, Meschia JF, Sex differences in stroke evaluations in the Ischemic Stroke Genetics Study.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 16:187-93 2006
PubMed ID: 17845914 |
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Limdi NA, McGwin G, Goldstein JA, Beasley TM, Arnett DK, Adler BK, Baird MF, Acton RT, Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin.
Clinical pharmacology and therapeutics 83:312-21 2007
PubMed ID: 17653141 View Samples |
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Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF, SWISS Study Group JF, ISGS Study Group JF, MSGD Study Group JF, Association of integrin alpha2 gene variants with ischemic stroke.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 28:81-9 2007
PubMed ID: 17534386 |
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Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF, SWISS, ISGS, and MSGD Investigators JF, IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations.
Stroke; a journal of cerebral circulation 38:1189-96 2007
PubMed ID: 17332449 |
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Kaufmann P, Mitsumoto H, ALSRG Database Task Force Steering Committee H, ALSRG Members H, ALS Research Group H, ALS Research Group (ALSRG): second meeting, a summary report.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 7:252-5 2006
PubMed ID: 17127566 |
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Scholz S, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Barton E, Munson S, Singleton A, Okun MS, LRRK2 mutations in a clinic-based cohort of Parkinson's disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 13:1298-301 2006
PubMed ID: 17116211 |
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Haugarvoll K, Uitti RJ, Farrer MJ, Wszolek ZK, LRRK2 gene and tremor-dominant parkinsonism.
Archives of neurology 63:1346-7 2006
PubMed ID: 16966525 |
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Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J, Genetic variability in CHMP2B and frontotemporal dementia.
Neuro-degenerative diseases 3:129-33 2006
PubMed ID: 16954699 |
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Limdi NA, Beasley TM, Allison DB, Rivers CA, Acton RT, Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy.
Blood cells, molecules & diseases 37:100-6 2006
PubMed ID: 16889993 |
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Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF, Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Archives of neurology 63:826-32 2006
PubMed ID: 16769863 |
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Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL, Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage.
Stroke; a journal of cerebral circulation 37:1680-5 2006
PubMed ID: 16728691 |
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Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M, Genomewide association, Parkinson disease, and PARK10.
American journal of human genetics 78:1084-8; author reply 1092-4 2006
PubMed ID: 16685661 |
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Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A, Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease.
American journal of human genetics 78:1082-4; author reply 1092-4 2006
PubMed ID: 16685660 |
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Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL, Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations.
Neurosurgery 58:838-43; discussion 838-43 2006
PubMed ID: 16639317 |
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Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K, Case-control study of the parkin gene in early-onset Parkinson disease.
Archives of neurology 63:548-52 2006
PubMed ID: 16606767 |
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Meschia JF, Kissela BM, Brott TG, Brown RD, Worrall BB, Beck J, Skarp AN, The Siblings With Ischemic Stroke Study (SWISS): a progress report.
Clinical medicine & research 4:12-21 2006
PubMed ID: 16595789 |
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Woo D, Sekar P, Chakraborty R, Haverbusch MA, Flaherty ML, Kissela BM, Kleindorfer D, Schneider A, Khoury J, Sauerbeck LR, Deka R, Broderick JP, Genetic Epidemiology of Intracerebral Hemorrhage.
J Stroke Cerebrovasc Dis 14:239-243 2005
PubMed ID: 16557295 |
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Woo D, Kaushal R, Kissela B, Sekar P, Wolujewicz M, Pal P, Alwell K, Haverbusch M, Ewing I, Miller R, Kleindorfer D, Flaherty M, Chakraborty R, Deka R, Broderick J, Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study.
Stroke; a journal of cerebral circulation 37:371-6 2006
PubMed ID: 16373644 |
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Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project WL, Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations.
Stroke; a journal of cerebral circulation 37:231-4 2005
PubMed ID: 16322490 |
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Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL, Interleukin-6 involvement in brain arteriovenous malformations.
Annals of neurology 59:72-80 2006
PubMed ID: 16278864 |
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Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR, Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
Neuroscience letters 394:33-6 2006
PubMed ID: 16257123 |
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Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project WL, Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
Stroke; a journal of cerebral circulation 36:2278-80 2005
PubMed ID: 16179574 |
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Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ, Lrrk2 pathogenic substitutions in Parkinson's disease.
Neurogenetics 6:171-7 2005
PubMed ID: 16172858 |
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Foroud T, LRRK2: both a cause and a risk factor for Parkinson disease?.
Neurology 65:664-5 2005
PubMed ID: 16157895 |
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Meschia JF, Brott TG, Brown RD, Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW, Hague S, Singleton A, Hardy J, SWISS Study Group J, ISGS Study Group J, MSGD Study Group J, Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke.
Annals of neurology 58:351-61 2005
PubMed ID: 16130105 |
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Pankratz N, Byder L, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC, Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia.
Movement disorders : official journal of the Movement Disorder Society 21:45-9 2005
PubMed ID: 16116614 |
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Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A, The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.
Neuroscience letters 389:137-9 2005
PubMed ID: 16102903 |
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Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ, Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women.
Stroke; a journal of cerebral circulation 36:1848-51 2005
PubMed ID: 16100023 |
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Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D, Flaherty M, Schneider A, Khatri P, Sauerbeck L, Khoury J, Deka R, Broderick J, Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage.
Stroke; a journal of cerebral circulation 36:1874-9 2005
PubMed ID: 16100021 |
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Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW, Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
Neurobiology of disease 21:102-9 2006
PubMed ID: 16084104 |
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Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl AJ, PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.
Brain : a journal of neurology 128:2777-85 2005
PubMed ID: 16081470 |
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Cronin S, Furie KL, Kelly PJ, Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis.
Stroke; a journal of cerebral circulation 36:1581-7 2005
PubMed ID: 15947278 |
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Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A, Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 136:72-4 2005
PubMed ID: 15924299 |
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Broderick JP, Sauerbeck LR, Foroud T, Huston J, Pankratz N, Meissner I, Brown RD, The Familial Intracranial Aneurysm (FIA) study protocol.
BMC medical genetics 6:17 2005
PubMed ID: 15854227 |
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Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ, Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy.
Epilepsy & behavior : E&B 6:444-6 2004
PubMed ID: 15820358 |
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Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M, Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
American journal of human genetics 76:672-80 2004
PubMed ID: 15726496 |
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Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, Parkinson Study Group-PROGENI investigators T, Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Lancet 365:410-2 2005
PubMed ID: 15680455 |
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Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O, Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.
Neuroscience letters 374:189-91 2005
PubMed ID: 15663960 |
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Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A, Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 133:120-3 2005
PubMed ID: 15635662 |
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Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB, Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Archives of neurology 61:1898-904 2004
PubMed ID: 15596610 |
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Meschia JF, Worrall BB, New advances in identifying genetic anomalies in stroke-prone probands.
Current neurology and neuroscience reports 4:420-6 2004
PubMed ID: 15324609 |
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Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V, Santos AC, Machado HR, Carlotti CG, Brentani RR, Martins VR, Sakamoto AC, Cortical malformations are associated with a rare polymorphism of cellular prion protein.
Neurology 63:557-60 2004
PubMed ID: 15304595 |
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Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB, SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Neurology 63:554-6 2004
PubMed ID: 15304594 |
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Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekci S, Sevim S, Gwinn-Hardy k, Singleton A., A consanguineous Turkish family with early-onset Parkinson's disease an exon 4 parkin deletion.
Mov Disord 19(7):812-6 2004
PubMed ID: 15254940 View Samples |
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Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS, Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication.
Brain : a journal of neurology 127:768-72 2004
PubMed ID: 14736756 |
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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, Gwinn-Hardy K, alpha-Synuclein locus triplication causes Parkinson's disease..
Science 302(5646):841 2003
PubMed ID: 14593171 View Samples |
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El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S, Cookson MR, Hardy J, Allsop D, Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 17:1945-7 2003
PubMed ID: 14519670 |
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Meschia JF, Brott TG, Brown RD, Crook RJ, Frankel M, Hardy J, Merino JG, Rich SS, Silliman S, Worrall BB, Ischemic Stroke Genetics Study BB, The Ischemic Stroke Genetics Study (ISGS) Protocol.
BMC neurology 3:4 2003
PubMed ID: 12848902 |
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PUBLICATIONS FROM STUDIES THAT HAVE USED THE HAPMAP |
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Evangelou E, Maraganore DM, Ioannidis JP, Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease.
PLoS ONE 2:e196 2006
PubMed ID: 17332845 View Samples |
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Reviews that Refer to NINDS Repository |
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Chen DT, Case LD, Brott TG, Brown RD, Silliman SL, Meschia JF, Worrall BB, ISGS Investigators BB, Impact of restricting enrollment in stroke genetics research to adults able to provide informed consent.
Stroke; a journal of cerebral circulation 39:831-7 2008
PubMed ID: 18258838 |
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Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA, for The ALS Research Group MA, Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.
PLoS ONE 2:e1254 2007
PubMed ID: 18060051 |
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Schymick JC, Talbot K, Traynor BJ, Genetics of sporadic amyotrophic lateral sclerosis.
Human molecular genetics 16 Spec No. 2:R233-42 2007
PubMed ID: 17911166 |
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Ross OA, Worrall BB, Meschia JF, Advancing stroke therapeutics through genetic understanding.
Current drug targets 8:850-9 2007
PubMed ID: 17630939 |
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Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y, Macer D, Marshall P, Nkwodimmah C, Peiffer A, Royal C, Suda E, Zhao H, Wang VO, McEwen J, International HapMap Consortium J, Community engagement and informed consent in the International HapMap project.
Community genetics 10:186-98 2007
PubMed ID: 17575464 |
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[no authors listed], Biomarkers to improve cancer detection.
Q Links - Pharmacogenomics 7(7):965-967 2006
PubMed ID: |
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Benjamin Neale, Manuel Ferreira, Sarah Medland and Danielle Posthuma, Statistical Genetics: Gene Mapping Through Linkage and Association.
Statistical Genetics (ISBN-13: 9780415410403) :608 2007
PubMed ID: |
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J C Schymick, Y Yang, P M Andersen, J P Vonsattel, M Greenway, P Momeni, J Elder, A Chio, G Restagno, W Robberecht, C Dahlberg, O Mukherjee, A Goate, N Graff-Radford, R J Caselli, M Hutton, J Gass, A Cannon, R Rademakers, A B Singleton, O Hardiman, J Rothstein, J Hardy, B J Traynor, Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes.
British Medical Journal : 2007
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Keller MA, Gwinn K, Nash J, Horsford J, Zhang R, Rich SS, Corriveau RA, Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery.
Neuropsychatric Disease and Treatment 3(5):613-618 2007
PubMed ID: |
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Rita J. Guerreiro, Jennifer C. Schymick, Cynthia Crews, Andrew Singleton, John Hardy, and Bryan J. Traynor, TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis.
PLoS ONE 3(6): 2008
PubMed ID: |
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Shaw, Gina, Innovative Collaboration to Create an ALS Bank..
Neurology 6(4):5-6 2006
PubMed ID: |
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Sonja W. Scholz, Georgia Xiromerisiou, Hon C. Fung, Johanna Eerola, Olli Hellström, Alexandros Papadimitriou, Georgios M. Hadjigeorgiou, Pentti J. Tienari, Hubert H. Fernandez, Ronald Mandel, Michael S. Okun, Katharina Gwinn-Hardy and Andrew B. Singleton, The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations.
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PubMed ID: |
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Z . Khachaturian, A chapter in the development of Alzheimer’s disease research: A case study of public policies on the development and funding of research programs..
Alzheimer's and Dementia 3:243-258 2008
PubMed ID: |
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Used Resource, Catalog IDs Not Specified |
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Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, de Munain AL, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, Decarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VM., Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
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Nature Genetics : 2010
PubMed ID: 20154673 |
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Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS., Novel THAP1 Sequence Variants in
Primary Dystonia.
Neurology 74:229-38 2010
PubMed ID: 20083799 View Samples |
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Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T, Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Nature genetics : 2009
PubMed ID: 19915575 |
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Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, Destefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, Coordinators PP, Laboratory PP, Coordinators GI, Laboratories GM., Genomewide association study for onset age in Parkinson disease.
BMC Medical Genetics 10:98 2009
PubMed ID: 19772629 |
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Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J, Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Nature genetics 41:1088-93 2009
PubMed ID: 19734902 |
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van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH, Genome-wide association study identifies 19p133 (UNC13A) and 9p212 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Nature genetics 41:1083-7 2009
PubMed ID: 19734901 |
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Ravina B, Tanner C, Dieuliis D, Eberly S, Flagg E, Galpern WR, Fahn S, Goetz CG, Grate S, Kurlan R, Lang AE, Marek K, Kieburtz K, Oakes D, Elliott R, Shoulson I, The Parkinson Study Group LABS-PD Investigators I, A longitudinal program for biomarker development in Parkinson's disease: A feasibility study.
Movement disorders : official journal of the Movement Disorder Society : 2009
PubMed ID: 19691116 |
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Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC, Parkinson Study Group-PROGENI Investigators WC, Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Neurology 73:279-86 2009
PubMed ID: 19636047 |
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Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ, Characterization of DCTN1 genetic variability in neurodegeneration.
Neurology 72:2024-8 2009
PubMed ID: 19506225 |
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Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH, Parkinson's disease and low frequency alleles found together throughout LRRK2.
Annals of human genetics 73:391-403 2009
PubMed ID: 19489756 |
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Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB, Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.
PLoS genetics 5:e1000415 2008
PubMed ID: 19282984 |
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Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T, Parkinson Study Group-PROGENI Investigators T, Variation in GIGYF2 is not associated with Parkinson disease.
Neurology 72:1886-92 2009
PubMed ID: 19279319 |
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Tzeng JY, Zhang D, Chang SM, Thomas DC, Davidian M, Gene-Trait Similarity Regression for Multimarker-Based Association Analysis.
Biometrics 65:822-32 2009
PubMed ID: 19210740 |
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Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE, Population analysis of large copy number variants and hotspots of human genetic disease.
American journal of human genetics 84:148-61 2008
PubMed ID: 19166990 |
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Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T, 15q133 microdeletions increase risk of idiopathic generalized epilepsy.
Nature genetics 41:160-2 2008
PubMed ID: 19136953 |
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Ramoni RB, Himes BE, Sale MM, Furie KL, Ramoni MF, Predictive genomics of cardioembolic stroke.
Stroke; a journal of cerebral circulation 40:S67-70 2008
PubMed ID: 19064790 |
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Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O, Screening for replication of genome-wide SNP associations in sporadic ALS.
European journal of human genetics : EJHG 17:213-8 2008
PubMed ID: 18987618 |
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Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories RH, Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Human genetics 124:593-605 2008
PubMed ID: 18985386 |
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Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB, A duplication at chromosome 11q122-11q123 is associated with spinocerebellar ataxia type 20.
Human molecular genetics 17:3847-53 2008
PubMed ID: 18801880 |
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Sale H, Wang J, O'Hara TJ, Tester DJ, Phartiyal P, He JQ, Rudy Y, Ackerman MJ, Robertson GA, Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome.
Circulation research 103:e81-95 2008
PubMed ID: 18776039 |
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Li Y, Rowland C, Xiromerisiou G, Lagier RJ, Schrodi SJ, Dradiotis E, Ross D, Bui N, Catanese J, Aggelakis K, Grupe A, Hadjigeorgiou G, Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease.
PloS one 3:e2707 2008
PubMed ID: 18628988 |
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Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF, ISGS investigators JF, Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21.
Stroke; a journal of cerebral circulation 39:1586-9 2008
PubMed ID: 18340101 |
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Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH, New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.
Neurology 70:1179-85 2008
PubMed ID: 18322265 |
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Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K, Martinez M, Hollingworth P, Goate A, Cairns NJ, Racette BA, Perlmutter JS, O'Donovan MC, Morris JC, Brayne C, Rubinsztein DC, Lovestone S, Thal LJ, Owen MJ, Williams J, Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.
Human molecular genetics 17:759-67 2007
PubMed ID: 18063669 |
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Wendland JR, Moya PR, Kruse MR, Ren-Patterson RF, Jensen CL, Timpano KR, Murphy DL, A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder.
Human molecular genetics 17:717-23 2007
PubMed ID: 18055562 |
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Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ, Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
BMC neurology 6:44 2006
PubMed ID: 17166276 |
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Li Y, Schrodi S, Rowland C, Tacey K, Catanese J, Grupe A, Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease.
Human mutation 27:1017-23 2006
PubMed ID: 16917932 |
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Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ, Parkinsonism, FXTAS, and FMR1 premutations.
Movement disorders : official journal of the Movement Disorder Society 20:230-3 2005
PubMed ID: 15390127 |
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Utilized SNP Resource |
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Curtis D, Allelic association studies of genome wide association data can reveal errors in marker position assignments.
BMC Genet 8:30 2007
PubMed ID: 177559648 |
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Sha Q, Zhang Z, Schymick C, Traynor J, Zhang S, Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis.
BMC medical genetics 10:86 2008
PubMed ID: 19740415 |
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Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW, Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma.
The Journal of investigative dermatology : 2009
PubMed ID: 19710684 |
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Jensen ST, Soi S, Wang LS, A Bayesian approach to efficient differential allocation for resampling-based significance testing.
BMC bioinformatics 10:198 2008
PubMed ID: 19558706 |
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Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
Proceedings of the National Academy of Sciences of the United States of America 106:9004-9 2009
PubMed ID: 19451621 |
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Tang W, Wu X, Jiang R, Li Y, Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy.
PLoS genetics 5:e1000464 2008
PubMed ID: 19412524 |
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