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Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Marguet F, Laquerrière A, Goldenberg A, Guerrot AM, Quenez O, Flahaut P, Vanhulle C, Dumant-Forest C, Charbonnier F, Vezain M, Bekri S, Tournier I, Frébourg T, Nicolas G. Marguet F, et al. Among authors: laquerriere a. Am J Med Genet A. 2016 May;170A(5):1317-24. doi: 10.1002/ajmg.a.37577. Epub 2016 Feb 1. Am J Med Genet A. 2016. PMID: 26833990
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Nicolas G, et al. Among authors: laquerriere a. Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13. Alzheimers Dement. 2018. PMID: 30114415 Free PMC article.
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A. Marret S, et al. Among authors: laquerriere a. Handb Clin Neurol. 2013;111:169-76. doi: 10.1016/B978-0-444-52891-9.00016-6. Handb Clin Neurol. 2013. PMID: 23622161 Review.
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S. Marguet F, et al. Among authors: laquerriere a. Metab Brain Dis. 2016 Dec;31(6):1435-1443. doi: 10.1007/s11011-016-9869-z. Epub 2016 Jul 20. Metab Brain Dis. 2016. PMID: 27438048
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM. Tessier A, et al. Among authors: laquerriere a. Prenat Diagn. 2016 Dec;36(13):1270-1275. doi: 10.1002/pd.4971. Epub 2016 Dec 9. Prenat Diagn. 2016. PMID: 27859469 Review.
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A. Saugier-Veber P, et al. Among authors: laquerriere a. Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. Acta Neuropathol Commun. 2017. PMID: 28460636 Free PMC article.
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H. Touraine R, et al. Among authors: laquerriere a. Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748650 Free article.
260 results