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Page 1
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Cushion TD, et al. Among authors: pilz dt. Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29. Brain. 2013. PMID: 23361065
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Fry AE, et al. Among authors: pilz dt. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. Brain. 2018. PMID: 29365063 Free PMC article.
Tubulin genes and malformations of cortical development.
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Romaniello R, et al. Among authors: pilz dt. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Eur J Med Genet. 2018. PMID: 30016746 Review.
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE. Gardner JF, et al. Among authors: pilz dt. Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145. Brain Sci. 2018. PMID: 30087272 Free PMC article.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Leventer RJ, et al. Among authors: pilz dt. Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19. Brain. 2010. PMID: 20403963 Free PMC article.
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. Kumar RA, et al. Among authors: pilz dt. Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12. Hum Mol Genet. 2010. PMID: 20466733 Free PMC article.
The genetics of lissencephaly.
Fry AE, Cushion TD, Pilz DT. Fry AE, et al. Among authors: pilz dt. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23. Am J Med Genet C Semin Med Genet. 2014. PMID: 24862549 Review.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. Oegema R, et al. Among authors: pilz dt. Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7. Nat Rev Neurol. 2020. PMID: 32895508 Free PMC article. Review.
114 results