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Page 1
How much phenotypic variation can be attributed to parkin genotype?
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: destee a. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Rawal N, et al. Among authors: destee a. Neurology. 2003 Apr 22;60(8):1378-81. doi: 10.1212/01.wnl.0000056167.89221.be. Neurology. 2003. PMID: 12707451
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: destee a. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Charles P, Camuzat A, Benammar N, Sellal F, Destée A, Bonnet AM, Lesage S, Le Ber I, Stevanin G, Dürr A, Brice A; French Parkinson's Disease Genetic Study Group. Charles P, et al. Among authors: destee a. Neurology. 2007 Nov 20;69(21):1970-5. doi: 10.1212/01.wnl.0000269323.21969.db. Epub 2007 Jun 13. Neurology. 2007. PMID: 17568014
Preservation of cognitive function in dystonia treated by pallidal stimulation.
Pillon B, Ardouin C, Dujardin K, Vittini P, Pelissolo A, Cottencin O, Vercueil L, Houeto JL, Krystkowiak P, Agid Y, Destée A, Pollak P, Vidailhet M; French SPIDY Study Group. Pillon B, et al. Among authors: destee a. Neurology. 2006 May 23;66(10):1556-8. doi: 10.1212/01.wnl.0000216131.41563.24. Neurology. 2006. PMID: 16717218 Clinical Trial.
CYP2D6 polymorphism and Parkinson's disease susceptibility.
Sabbagh N, Brice A, Marez D, Dürr A, Legrand M, Lo Guidice JM, Destée A, Agid Y, Broly F. Sabbagh N, et al. Among authors: destee a. Mov Disord. 1999 Mar;14(2):230-6. doi: 10.1002/1531-8257(199903)14:2<230::aid-mds1005>3.0.co;2-6. Mov Disord. 1999. PMID: 10091614
Disease severity and progression in progressive supranuclear palsy and multiple system atrophy: validation of the NNIPPS--Parkinson Plus Scale.
Payan CA, Viallet F, Landwehrmeyer BG, Bonnet AM, Borg M, Durif F, Lacomblez L, Bloch F, Verny M, Fermanian J, Agid Y, Ludolph AC, Leigh PN, Bensimon G; NNIPPS Study Group. Payan CA, et al. PLoS One. 2011;6(8):e22293. doi: 10.1371/journal.pone.0022293. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21829612 Free PMC article.
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