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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Bonifati V, et al. Among authors: brice a. Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21. Science. 2003. PMID: 12446870
PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: brice a. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Rawal N, Periquet M, Dürr A, de Michele G, Bonifati V, Teive HA, Raskin S, Guimaraes J, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Rawal N, et al. Among authors: brice a. J Neurol. 2002 Aug;249(8):1127-9. doi: 10.1007/s00415-002-0757-6. J Neurol. 2002. PMID: 12420720 No abstract available.
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A. Martinez M, et al. Among authors: brice a. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):72-4. doi: 10.1002/ajmg.b.30196. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15924299
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: brice a. Neurogenetics. 2007 Apr;8(2):103-9. doi: 10.1007/s10048-006-0072-y. Epub 2007 Jan 12. Neurogenetics. 2007. PMID: 17219214
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium; Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR. Simón-Sánchez J, et al. Among authors: brice a. PLoS One. 2012;7(3):e28787. doi: 10.1371/journal.pone.0028787. Epub 2012 Mar 12. PLoS One. 2012. PMID: 22427796 Free PMC article.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: brice a. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
1,073 results