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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Jaglin XH, et al. Among authors: kossorotoff m. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465910 Free PMC article.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Durrleman C, Grevent D, Aubart M, Kossorotoff M, Roux CJ, Kaminska A, Rio M, Barcia G, Boddaert N, Munnich A, Nabbout R, Desguerre I. Durrleman C, et al. Among authors: kossorotoff m. Eur J Neurol. 2023 Jul;30(7):2051-2061. doi: 10.1111/ene.15821. Epub 2023 May 10. Eur J Neurol. 2023. PMID: 37046408
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Guey S, Hervé D, Kossorotoff M, Ha G, Aloui C, Bergametti F, Arnould M, Guenou H, Hadjadj J, Dubois Teklali F, Riant F, Balligand JL, Uzan G, Villoutreix BO, Tournier-Lasserve E. Guey S, et al. Among authors: kossorotoff m. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. Hum Genomics. 2023. PMID: 36941667 Free PMC article.
Neurologic Outcomes and Quality of Life in Children After Extracorporeal Membrane Oxygenation.
Michel A, Vedrenne-Cloquet M, Kossorotoff M, Thy M, Levy R, Pouletty M, De Marcellus C, Grimaud M, Moulin F, Hully M, Simonnet H, Desguerre I, Renolleau S, Oualha M, Chareyre J. Michel A, et al. Among authors: kossorotoff m. Pediatr Crit Care Med. 2024 Mar 1;25(3):e158-e167. doi: 10.1097/PCC.0000000000003419. Epub 2023 Dec 13. Pediatr Crit Care Med. 2024. PMID: 38088764
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Among authors: kossorotoff m. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
128 results