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Page 1
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.
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.
Neuropsychiatric disease in patients with periventricular heterotopia.
Fry AE, Kerr MP, Gibbon F, Turnpenny PD, Hamandi K, Stoodley N, Robertson SP, Pilz DT. Fry AE, et al. Among authors: pilz dt. J Neuropsychiatry Clin Neurosci. 2013 Winter;25(1):26-31. doi: 10.1176/appi.neuropsych.11110336. J Neuropsychiatry Clin Neurosci. 2013. PMID: 23487190
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.
114 results