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Page 1
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: lubbe sj. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
Lubbe SJ, Pittman AM, Matijssen C, Twiss P, Olver B, Lloyd A, Qureshi M, Brown N, Nye E, Stamp G, Blagg J, Houlston RS. Lubbe SJ, et al. Hum Mutat. 2011 Jan;32(1):E1928-38. doi: 10.1002/humu.21376. Epub 2010 Oct 14. Hum Mutat. 2011. PMID: 20949628 Free PMC article.
MLH1-93G > A is a risk factor for MSI colorectal cancer.
Whiffin N, Broderick P, Lubbe SJ, Pittman AM, Penegar S, Chandler I, Houlston RS. Whiffin N, et al. Among authors: lubbe sj. Carcinogenesis. 2011 Aug;32(8):1157-61. doi: 10.1093/carcin/bgr089. Epub 2011 May 11. Carcinogenesis. 2011. PMID: 21565826
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Disease meta-analysis consortium. Nalls MA, et al. Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4. Neurobiol Aging. 2015. PMID: 25444595 Free PMC article.
Polygenic risk of Parkinson disease is correlated with disease age at onset.
Escott-Price V; International Parkinson's Disease Genomics Consortium; Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM; IPDGC consortium members. Escott-Price V, et al. Ann Neurol. 2015 Apr;77(4):582-91. doi: 10.1002/ana.24335. Epub 2015 Mar 13. Ann Neurol. 2015. PMID: 25773351 Free PMC article.
Genetic risk and age in Parkinson's disease: Continuum not stratum.
Nalls MA, Escott-Price V, Williams NM, Lubbe S, Keller MF, Morris HR, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Nalls MA, et al. Mov Disord. 2015 May;30(6):850-4. doi: 10.1002/mds.26192. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778492 Free PMC article.
EIF4G1 mutations do not cause Parkinson's disease.
Nichols N, Bras JM, Hernandez DG, Jansen IE, Lesage S, Lubbe S, Singleton AB; International Parkinson's Disease Genomics Consortium. Nichols N, et al. Neurobiol Aging. 2015 Aug;36(8):2444.e1-4. doi: 10.1016/j.neurobiolaging.2015.04.017. Epub 2015 May 9. Neurobiol Aging. 2015. PMID: 26022768 Free PMC article.
94 results