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241 related items for PubMed ID: 29461643

  • 1. Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.
    Avansini SH, Torres FR, Vieira AS, Dogini DB, Rogerio F, Coan AC, Morita ME, Guerreiro MM, Yasuda CL, Secolin R, Carvalho BS, Borges MG, Almeida VS, Araújo PAOR, Queiroz L, Cendes F, Lopes-Cendes I.
    Ann Neurol; 2018 Mar; 83(3):623-635. PubMed ID: 29461643
    [Abstract] [Full Text] [Related]

  • 2. FCD Type II and mTOR pathway: Evidence for different mechanisms involved in the pathogenesis of dysmorphic neurons.
    Rossini L, Villani F, Granata T, Tassi L, Tringali G, Cardinale F, Aronica E, Spreafico R, Garbelli R.
    Epilepsy Res; 2017 Jan; 129():146-156. PubMed ID: 28056425
    [Abstract] [Full Text] [Related]

  • 3. Similar PDK1-AKT-mTOR pathway activation in balloon cells and dysmorphic neurons of type II focal cortical dysplasia with refractory epilepsy.
    Lin YX, Lin K, Kang DZ, Liu XX, Wang XF, Zheng SF, Yu LH, Lin ZY.
    Epilepsy Res; 2015 May; 112():137-49. PubMed ID: 25847349
    [Abstract] [Full Text] [Related]

  • 4. Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia.
    Li S, Zang Z, He J, Chen X, Yu S, Pei Y, Hou Z, An N, Yang H, Zhang C, Liu S.
    Oncotarget; 2017 Jan 24; 8(4):6883-6895. PubMed ID: 28036289
    [Abstract] [Full Text] [Related]

  • 5. Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
    Lee WS, Baldassari S, Stephenson SEM, Lockhart PJ, Baulac S, Leventer RJ.
    Int J Mol Sci; 2022 Jan 25; 23(3):. PubMed ID: 35163267
    [Abstract] [Full Text] [Related]

  • 6. [Activation of mTOR in maldeveloped balloon cells and dysmorphic neurons of type II focal cortical dysplasia].
    Lin K, Lin YX, Kang DZ, Ye ZX, Wang XF.
    Zhonghua Bing Li Xue Za Zhi; 2013 May 25; 42(5):311-5. PubMed ID: 24004587
    [Abstract] [Full Text] [Related]

  • 7. mTOR pathway activation in focal cortical dysplasia.
    Kumari K, Sharma MC, Kakkar A, Malgulwar PB, Pathak P, Suri V, Sarkar C, Chandra SP, Faruq M.
    Ann Diagn Pathol; 2020 Jun 25; 46():151523. PubMed ID: 32325422
    [Abstract] [Full Text] [Related]

  • 8. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.
    JAMA Neurol; 2016 Jul 01; 73(7):836-845. PubMed ID: 27159400
    [Abstract] [Full Text] [Related]

  • 9. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
    Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N.
    Ann Neurol; 2015 Sep 01; 78(3):375-86. PubMed ID: 26018084
    [Abstract] [Full Text] [Related]

  • 10. Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias.
    Orlova KA, Tsai V, Baybis M, Heuer GG, Sisodiya S, Thom M, Strauss K, Aronica E, Storm PB, Crino PB.
    J Neuropathol Exp Neurol; 2010 Aug 01; 69(8):850-63. PubMed ID: 20613634
    [Abstract] [Full Text] [Related]

  • 11. Layer-specific gene expression in epileptogenic type II focal cortical dysplasia: normal-looking neurons reveal the presence of a hidden laminar organization.
    Rossini L, Medici V, Tassi L, Cardinale F, Tringali G, Bramerio M, Villani F, Spreafico R, Garbelli R.
    Acta Neuropathol Commun; 2014 Apr 15; 2():45. PubMed ID: 24735483
    [Abstract] [Full Text] [Related]

  • 12. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
    Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH.
    Nat Med; 2015 Apr 15; 21(4):395-400. PubMed ID: 25799227
    [Abstract] [Full Text] [Related]

  • 13. [Focal cortical dysplasia with refractory epilepsy: clinicopathologic study of 38 cases].
    Piao YS, Chen L, Fu YJ, Wang W, Li YJ, Lu DH.
    Zhonghua Bing Li Xue Za Zhi; 2007 Mar 15; 36(3):150-4. PubMed ID: 17535679
    [Abstract] [Full Text] [Related]

  • 14. Aberrant Expression of miR-323a-5p in Patients with Refractory Epilepsy Caused by Focal Cortical Dysplasia.
    Che N, Zu G, Zhou T, Wang X, Sun Y, Tan Z, Liu Y, Wang D, Luo X, Zhao Z, Zhang Y, Wei M, Yin J.
    Genet Test Mol Biomarkers; 2017 Jan 15; 21(1):3-9. PubMed ID: 27824513
    [Abstract] [Full Text] [Related]

  • 15. Focal cortical dysplasia pathology: diagnostic difficulty, classification, and utility for pathogenesis.
    Kapar O, Gurkan ZM, Dolgun M, Sencer A, Gürses C, Bilgic B.
    Neurosurg Focus; 2022 Oct 15; 53(4):E6. PubMed ID: 36183176
    [Abstract] [Full Text] [Related]

  • 16. Neurogenin 2 controls cortical neuron migration through regulation of Rnd2.
    Heng JI, Nguyen L, Castro DS, Zimmer C, Wildner H, Armant O, Skowronska-Krawczyk D, Bedogni F, Matter JM, Hevner R, Guillemot F.
    Nature; 2008 Sep 04; 455(7209):114-8. PubMed ID: 18690213
    [Abstract] [Full Text] [Related]

  • 17. Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly.
    Arai A, Saito T, Hanai S, Sukigara S, Nabatame S, Otsuki T, Nakagawa E, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sugai K, Sasaki M, Goto Y, Itoh M.
    Brain Res; 2012 Aug 27; 1470():89-97. PubMed ID: 22759905
    [Abstract] [Full Text] [Related]

  • 18. Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia.
    Patil VV, Guzman M, Carter AN, Rathore G, Yoshor D, Curry D, Wilfong A, Agadi S, Swann JW, Adesina AM, Bhattacharjee MB, Anderson AE.
    Neuropathology; 2016 Apr 27; 36(2):146-56. PubMed ID: 26381727
    [Abstract] [Full Text] [Related]

  • 19. Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs).
    Sugiura C, Miyata H, Ueda M, Ohama E, Vinters HV, Ohno K.
    Neuropathology; 2008 Aug 27; 28(4):372-81. PubMed ID: 18179408
    [Abstract] [Full Text] [Related]

  • 20. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
    Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A.
    Hum Mol Genet; 2019 Nov 15; 28(22):3755-3765. PubMed ID: 31411685
    [Abstract] [Full Text] [Related]

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