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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: grant pe. Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145. Brain Sci. 2018. PMID: 30087272 Free PMC article.
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. Chew S, et al. Among authors: grant pe. Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31. Brain. 2013. PMID: 23378218 Free PMC article.
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. Cederquist GY, et al. Among authors: grant pe. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21. Hum Mol Genet. 2012. PMID: 23001566 Free PMC article.
Sulcal pits and patterns in developing human brains.
Im K, Grant PE. Im K, et al. Among authors: grant pe. Neuroimage. 2019 Jan 15;185:881-890. doi: 10.1016/j.neuroimage.2018.03.057. Epub 2018 Mar 27. Neuroimage. 2019. PMID: 29601953 Free PMC article. Review.
Can cerebellar and brainstem apparent diffusion coefficient (ADC) values predict neuromotor outcome in term neonates with hypoxic-ischemic encephalopathy (HIE) treated with hypothermia?
Arca-Díaz G, Re TJ, Drottar M, Fortuno CR, De Macedo-Rodrigues K, Im K, Figueras-Aloy J, Grant PE. Arca-Díaz G, et al. Among authors: grant pe. PLoS One. 2017 Jul 7;12(7):e0178510. doi: 10.1371/journal.pone.0178510. eCollection 2017. PLoS One. 2017. PMID: 28686592 Free PMC article.
321 results