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Page 1
FXTAS: new insights and the need for revised diagnostic criteria.
Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M. Apartis E, et al. Among authors: ouvrard hernandez am. Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077007
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort.
Lesage S, Houot M, Mangone G, Tesson C, Bertrand H, Forlani S, Anheim M, Brefel-Courbon C, Broussolle E, Thobois S, Damier P, Durif F, Roze E, Tison F, Grabli D, Ory-Magne F, Degos B, Viallet F, Cormier-Dequaire F, Ouvrard-Hernandez AM, Vidailhet M, Lohmann E, Singleton A, Corvol JC, Brice A; French Parkinson disease Genetics Study Group(PDG). Lesage S, et al. Among authors: ouvrard hernandez am. Front Neurol. 2020 Jul 28;11:682. doi: 10.3389/fneur.2020.00682. eCollection 2020. Front Neurol. 2020. PMID: 32849182 Free PMC article.
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: ouvrard hernandez am. 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.
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: ouvrard hernandez am. 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
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: ouvrard hernandez am. Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2. Hum Mol Genet. 2010. PMID: 20197411
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Stevanin G, et al. Among authors: ouvrard hernandez am. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free article.
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Among authors: ouvrard hernandez am. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648
[Neuropathies and chronic respiratory insufficiency: electrophysiologic study].
Vila A, Reymond F, Paramelle B, Stoebner P, Ouvrard-Hernandez AM, Muller P, Pollak P. Vila A, et al. Among authors: ouvrard hernandez am. Rev Electroencephalogr Neurophysiol Clin. 1986 Feb;15(4):331-40. doi: 10.1016/s0370-4475(86)80039-9. Rev Electroencephalogr Neurophysiol Clin. 1986. PMID: 3010400 French.
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.
Lesage S, Condroyer C, Lannuzel A, Lohmann E, Troiano A, Tison F, Damier P, Thobois S, Ouvrard-Hernandez AM, Rivaud-Péchoux S, Brefel-Courbon C, Destée A, Tranchant C, Romana M, Leclere L, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: ouvrard hernandez am. J Med Genet. 2009 Jul;46(7):458-64. doi: 10.1136/jmg.2008.062612. Epub 2009 Apr 8. J Med Genet. 2009. PMID: 19357115
11 results