Paisán-Ruíz C - Search Results

1

LRRK2 gene in Parkinson disease: mutation analysis and case control association study.

Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E. Paisán-Ruíz C, et al. Neurology. 2005 Sep 13;65(5):696-700. doi: 10.1212/01.wnl.0000167552.79769.b3. Neurology. 2005. PMID: 16157901

2

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Hernandez DG, et al. Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401. Ann Neurol. 2005. PMID: 15732108

3

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. Paisán-Ruíz C, et al. Hum Mutat. 2008 Apr;29(4):485-90. doi: 10.1002/humu.20668. Hum Mutat. 2008. PMID: 18213618

4

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

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. Paisan-Ruiz C, et al. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337587 Free PMC article.

5

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. Paisan-Ruiz C, et al. Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20. Eur J Neurol. 2008. PMID: 18717728 Free PMC article.

6

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. Brooks J, et al. J Med Genet. 2009 Jun;46(6):375-81. doi: 10.1136/jmg.2008.063917. Epub 2009 Apr 6. J Med Genet. 2009. PMID: 19351622 Free PMC article.

7

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.

Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A. Hernandez D, et al. Neurosci Lett. 2005 Dec 9;389(3):137-9. doi: 10.1016/j.neulet.2005.07.044. Neurosci Lett. 2005. PMID: 16102903 Clinical Trial.

8

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.

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. Johnson J, et al. Neurodegener Dis. 2007;4(5):386-91. doi: 10.1159/000105160. Epub 2007 Jul 6. Neurodegener Dis. 2007. PMID: 17622782

9

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. Camargos S, et al. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799

10

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

Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH. Paisán-Ruiz C, et al. Ann Hum Genet. 2009 Jul;73(Pt 4):391-403. doi: 10.1111/j.1469-1809.2009.00524.x. Epub 2009 May 21. Ann Hum Genet. 2009. PMID: 19489756 Free PMC article.

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