PubMed

Genome-wide association study reveals genetic risk underlying Parkinson's disease.

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.

Nat Genet. 2009 Dec;41(12):1308-1312. Epub 2009 Nov 15.PMID: 19915575 [PubMed - as supplied by publisher]Related articles

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

Paisán-Ruiz C, Ruiz-Martinez J, Ruibal M, Mok KY, Indakoetxea B, Gorostidi A, Massó JF.

Mov Disord. 2009 Nov 11. [Epub ahead of print] No abstract available. PMID: 19908320 [PubMed - as supplied by publisher]Related articles

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, Elahi E, Paisán-Ruiz C.

Hum Mol Genet. 2009 Oct 15;18(20):3969-77. Epub 2009 Aug 4.PMID: 19656777 [PubMed - in process]Related articles

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP.

Mov Disord. 2009 Aug 15;24(11):1684-8.PMID: 19630075 [PubMed - in process]Related articles

Parkinson's disease and low frequency alleles found together throughout LRRK2.

Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH.

Ann Hum Genet. 2009 Jul;73(Pt 4):391-403. Epub 2009 May 21.PMID: 19489756 [PubMed - indexed for MEDLINE]Related articles

SNCA variants are associated with increased risk for multiple system atrophy.

Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Gasser T.

Ann Neurol. 2009 May;65(5):610-4.PMID: 19475667 [PubMed - indexed for MEDLINE]Related articles

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C.

Hum Mutat. 2009 Aug;30(8):1153-60.PMID: 19472409 [PubMed - indexed for MEDLINE]Related articles

The genetics of Parkinson's syndromes: a critical review.

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C.

Curr Opin Genet Dev. 2009 Jun;19(3):254-65. Epub 2009 May 4. Review.PMID: 19419854 [PubMed - indexed for MEDLINE]Related articles

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.

Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L.

Neurosci Lett. 2009 Mar 13;452(2):87-9. Epub 2009 Jan 15.PMID: 19383421 [PubMed - indexed for MEDLINE]Related articles

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW.

J Med Genet. 2009 Jun;46(6):375-81. Epub 2009 Apr 6.PMID: 19351622 [PubMed - indexed for MEDLINE]Related articles

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

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.

PLoS Genet. 2009 Mar;5(3):e1000415. Epub 2009 Mar 13.PMID: 19282984 [PubMed - indexed for MEDLINE]Related articlesFree article

Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

Paisán-Ruiz C, Scopes G, Lee P, Houlden H.

Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):993-7.PMID: 19160445 [PubMed - in process]Related articles

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.

Sina F, Shojaee S, Elahi E, Paisán-Ruiz C.

Eur J Neurol. 2009 Jan;16(1):101-4.PMID: 19087156 [PubMed - in process]Related articles

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H.

Eur J Neurol. 2008 Oct;15(10):1065-70. Epub 2008 Aug 20.PMID: 18717728 [PubMed - indexed for MEDLINE]Related articles

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA.

Ann Neurol. 2009 Jan;65(1):19-23.PMID: 18570303 [PubMed - indexed for MEDLINE]Related articles

Whole genome analysis in a consanguineous family with early onset Alzheimer's disease.

Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J.

Neurobiol Aging. 2009 Dec;30(12):1986-91. Epub 2008 Apr 2.PMID: 18387709 [PubMed - in process]Related articles

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A.

Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. Epub 2008 Mar 12.PMID: 18337587 [PubMed - indexed for MEDLINE]Related articlesFree article

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

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.

Lancet Neurol. 2008 Mar;7(3):207-15. Epub 2008 Feb 1.PMID: 18243799 [PubMed - indexed for MEDLINE]Related articles

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB.

Hum Mutat. 2008 Apr;29(4):485-90.PMID: 18213618 [PubMed - indexed for MEDLINE]Related articles

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A.

Neurobiol Aging. 2009 Sep;30(9):1515-7. Epub 2007 Dec 21.PMID: 18160183 [PubMed - indexed for MEDLINE]Related articles