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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. Blauwendraat C, et al. Among authors: lubbe s. Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17. Neurobiol Aging. 2017. PMID: 28602509 Free PMC article.
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.
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. Among authors: lubbe s. 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.
Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala… See abstract for full author list ➔ Hibar DP, et al. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. Nature. 2015. PMID: 25607358 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. Among authors: lubbe s. 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. Among authors: lubbe s. 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. Among authors: lubbe s. 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.
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL. Kiely AP, et al. Among authors: lubbe s. Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3. Mol Neurodegener. 2015. PMID: 26306801 Free PMC article.
Is the MC1R variant p.R160W associated with Parkinson's?
Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR; International Parkinson's Disease Genomics Consortium. Lubbe SJ, et al. Ann Neurol. 2016 Jan;79(1):159-61. doi: 10.1002/ana.24527. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26389967 Free PMC article. No abstract available.
120 results