Paisán-Ruiz C - Search Results

1

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

2

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. Paisan-Ruiz C, et al. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.

3

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

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

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.

6

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

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

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. Bras J, et al. Neurobiol Aging. 2009 Sep;30(9):1515-7. doi: 10.1016/j.neurobiolaging.2007.11.016. Epub 2007 Dec 21. Neurobiol Aging. 2009. PMID: 18160183 Free PMC article.

9

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

10

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. Nalls MA, et al. PLoS Genet. 2009 Mar;5(3):e1000415. doi: 10.1371/journal.pgen.1000415. Epub 2009 Mar 13. PLoS Genet. 2009. PMID: 19282984 Free PMC article.

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