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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: marguet f. 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.
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: marguet f. 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.
In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.
Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G. Sauvestre F, et al. Among authors: marguet f. Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. Neuropathol Appl Neurobiol. 2017. PMID: 28489313 No abstract available.
Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma.
Fontanilles M, Marguet F, Bohers É, Viailly PJ, Dubois S, Bertrand P, Camus V, Mareschal S, Ruminy P, Maingonnat C, Lepretre S, Veresezan EL, Derrey S, Tilly H, Picquenot JM, Laquerrière A, Jardin F. Fontanilles M, et al. Among authors: marguet f. Oncotarget. 2017 Jul 18;8(29):48157-48168. doi: 10.18632/oncotarget.18325. Oncotarget. 2017. PMID: 28636991 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: marguet f. 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.
Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patients.
Fontanilles M, Marguet F, Alexandru C, Langlois O, Veresezan O, Gilard V, David M, Laquerriere A, Hanzen C, Tennevet I, Di Fiore F, Clatot F. Fontanilles M, et al. Among authors: marguet f. Support Care Cancer. 2019 Feb;27(2):477-484. doi: 10.1007/s00520-018-4336-5. Epub 2018 Jul 5. Support Care Cancer. 2019. PMID: 29978325
98 results