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Page 1
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Among authors: leguern e. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, Stojkovic T. Peretti A, et al. Among authors: leguern e. Eur J Hum Genet. 2019 Sep;27(9):1406-1418. doi: 10.1038/s41431-019-0403-8. Epub 2019 Apr 17. Eur J Hum Genet. 2019. PMID: 30996334 Free PMC article.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: leguern e. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
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: leguern e. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free article.
EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.
Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, LeGuern E, Lehesjoki AE, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M, Zoharn A; EFNS Task Force on Molecular Diagnosis of Neurologic Disorders. Gasser T, et al. Among authors: leguern e. Eur J Neurol. 2001 Jul;8(4):299-314. doi: 10.1046/j.1468-1331.2001.00226.x. Eur J Neurol. 2001. PMID: 11422426 Review. No abstract available.
242 results