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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: laugel v. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
A pediatric case of Fisher-Bickerstaff spectrum.
Tsapis M, Laugel V, Koob M, de Saint Martin A, Fischbach M. Tsapis M, et al. Among authors: laugel v. Pediatr Neurol. 2010 Feb;42(2):147-50. doi: 10.1016/j.pediatrneurol.2009.09.009. Pediatr Neurol. 2010. PMID: 20117755
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S. Miguet M, et al. Among authors: laugel v. Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2. Prenat Diagn. 2016. PMID: 27862069 No abstract available.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J. Ivanova EL, et al. Among authors: laugel v. Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823707 Free PMC article.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: laugel v. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Benign hereditary chorea: From benign to serious.
Lamiral A, El Chehadeh S, Chelly J, Anheim M, Laugel V, Tranchant C. Lamiral A, et al. Among authors: laugel v. Rev Neurol (Paris). 2020 May;176(4):295-296. doi: 10.1016/j.neurol.2019.07.026. Epub 2020 Jan 23. Rev Neurol (Paris). 2020. PMID: 31983472 No abstract available.
116 results