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2008 4
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Page 1
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Sidransky E, et al. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281. N Engl J Med. 2009. PMID: 19846850 Free PMC article.
Blepharospasm: A genetic screening study in 132 patients.
Hammer M, Abravanel A, Peckham E, Mahloogi A, Majounie E, Hallett M, Singleton A. Hammer M, et al. Parkinsonism Relat Disord. 2019 Jul;64:315-318. doi: 10.1016/j.parkreldis.2019.04.003. Epub 2019 Apr 2. Parkinsonism Relat Disord. 2019. PMID: 30956059 Free PMC article.
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. Defazio G, et al. Mov Disord. 2009 Mar 15;24(4):613-6. doi: 10.1002/mds.22471. Mov Disord. 2009. PMID: 19202559 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.
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE. Zody MC, et al. Nat Genet. 2008 Sep;40(9):1076-83. doi: 10.1038/ng.193. Nat Genet. 2008. PMID: 19165922 Free PMC article.
POLG1 polyglutamine tract variants associated with Parkinson's disease.
Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ. Eerola J, et al. Neurosci Lett. 2010 Jun 14;477(1):1-5. doi: 10.1016/j.neulet.2010.04.021. Epub 2010 Apr 24. Neurosci Lett. 2010. PMID: 20399836 Free PMC article.
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