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Page 1
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. Marelli C, et al. Among authors: tison f. Arch Neurol. 2011 May;68(5):637-43. doi: 10.1001/archneurol.2011.81. Arch Neurol. 2011. PMID: 21555639 Free PMC article.
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: tison f. Ann Neurol. 2005 Nov;58(5):784-7. doi: 10.1002/ana.20636. Ann Neurol. 2005. PMID: 16240353
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M. Lesage S, et al. Among authors: tison f. Arch Neurol. 2007 Mar;64(3):425-30. doi: 10.1001/archneur.64.3.425. Arch Neurol. 2007. PMID: 17353388
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A. du Montcel ST, et al. Among authors: tison f. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
Follow-up study of the GIGYF2 gene in French families with Parkinson's disease.
Lesage S, Condroyer C, Lohman E, Troiano A, Tison F, Viallet F, Damier P, Tranchant C, Vidhaillet M, Ouvrard-Hernandez AM, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group (FPDGSG). Lesage S, et al. Among authors: tison f. Neurobiol Aging. 2010 Jun;31(6):1069-71; discussion 1072-4. doi: 10.1016/j.neurobiolaging.2009.06.008. Epub 2009 Dec 8. Neurobiol Aging. 2010. PMID: 20004041
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
Lesage S, Condroyer C, Klebe S, Lohmann E, Durif F, Damier P, Tison F, Anheim M, Honoré A, Viallet F, Bonnet AM, Ouvrard-Hernandez AM, Vidailhet M, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: tison f. Neurobiol Aging. 2012 Sep;33(9):2233.e1-2233.e5. doi: 10.1016/j.neurobiolaging.2012.05.006. Epub 2012 Jun 1. Neurobiol Aging. 2012. PMID: 22658323 Free article.
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: tison f. 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.
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
Saad M, Lesage S, Saint-Pierre A, Corvol JC, Zelenika D, Lambert JC, Vidailhet M, Mellick GD, Lohmann E, Durif F, Pollak P, Damier P, Tison F, Silburn PA, Tzourio C, Forlani S, Loriot MA, Giroud M, Helmer C, Portet F, Amouyel P, Lathrop M, Elbaz A, Durr A, Martinez M, Brice A; French Parkinson's Disease Genetics Study Group. Saad M, et al. Among authors: tison f. Hum Mol Genet. 2011 Feb 1;20(3):615-27. doi: 10.1093/hmg/ddq497. Epub 2010 Nov 17. Hum Mol Genet. 2011. PMID: 21084426
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
International Parkinson Disease Genomics Consortium; Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. International Parkinson Disease Genomics Consortium, et al. Lancet. 2011 Feb 19;377(9766):641-9. doi: 10.1016/S0140-6736(10)62345-8. Epub 2011 Feb 1. Lancet. 2011. PMID: 21292315 Free PMC article.
439 results