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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: lesage s. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
A genetic cluster of early onset Parkinson's disease in a Colombian population.
Pineda-Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepulveda-Falla D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz-Linares A. Pineda-Trujillo N, et al. Among authors: lesage s. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):885-9. doi: 10.1002/ajmg.b.30375. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941654
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Ishihara L, et al. Among authors: lesage s. Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250. Arch Neurol. 2006. PMID: 16966502
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V. Grünewald A, et al. Among authors: lesage s. Neurogenetics. 2007 Apr;8(2):103-9. doi: 10.1007/s10048-006-0072-y. Epub 2007 Jan 12. Neurogenetics. 2007. PMID: 17219214
415 results