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519 related items for PubMed ID: 25451314

  • 1. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.
    Sarnat HB, Flores-Sarnat L.
    Brain Dev; 2015 Jun; 37(6):553-62. PubMed ID: 25451314
    [Abstract] [Full Text] [Related]

  • 2. Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis.
    Sarnat H, Flores-Sarnat L, Crino P, Hader W, Bello-Espinosa L.
    Folia Neuropathol; 2012 Jun; 50(4):330-45. PubMed ID: 23319189
    [Abstract] [Full Text] [Related]

  • 3. Characteristic expression of p57/Kip2 in balloon cells in focal cortical dysplasia.
    Kimura T, Kitaura H, Masuda H, Kameyama S, Saito Y, Sugai K, Otsuki T, Nakazawa A, Morota N, Yamamoto T, Iida K, Nakagawa M, Mizuno T, Takahashi H, Kakita A.
    Neuropathology; 2015 Oct; 35(5):401-9. PubMed ID: 25950494
    [Abstract] [Full Text] [Related]

  • 4. Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.
    Sidira C, Vargiami E, Dragoumi P, Zafeiriou DI.
    Eur J Paediatr Neurol; 2021 Jan; 30():58-65. PubMed ID: 33387903
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Morphogenesis timing of genetically programmed brain malformations in relation to epilepsy.
    Sarnat HB, Flores-Sarnat L.
    Prog Brain Res; 2014 Nov 15; 213():181-98. PubMed ID: 25194490
    [Abstract] [Full Text] [Related]

  • 7. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
    Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.
    Brain; 2015 Jun 15; 138(Pt 6):1613-28. PubMed ID: 25722288
    [Abstract] [Full Text] [Related]

  • 8. Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy.
    Chodraui FI, Garcia CAB, Mendes ND, Santos MV, Beggiora PS, Silva SC, Teixeira TL, da Silva Lopes L, Saggioro FP, Neder L, Machado HR.
    Dev Neurosci; 2020 Jun 15; 42(5-6):230-236. PubMed ID: 33706310
    [Abstract] [Full Text] [Related]

  • 9. Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies.
    Gruber VE, Lang J, Endmayr V, Diehm R, Pimpel B, Glatter S, Anink JJ, Bongaarts A, Luinenburg MJ, Reinten RJ, van der Wel N, Larsen P, Hainfellner JA, Rössler K, Aronica E, Scholl T, Mühlebner A, Feucht M.
    Neuropathol Appl Neurobiol; 2021 Oct 15; 47(6):812-825. PubMed ID: 34173252
    [Abstract] [Full Text] [Related]

  • 10. Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex.
    Scholl T, Mühlebner A, Ricken G, Gruber V, Fabing A, Samueli S, Gröppel G, Dorfer C, Czech T, Hainfellner JA, Prabowo AS, Reinten RJ, Hoogendijk L, Anink JJ, Aronica E, Feucht M.
    Brain Pathol; 2017 Nov 15; 27(6):770-780. PubMed ID: 27750396
    [Abstract] [Full Text] [Related]

  • 11. Desmoplastic infantile ganglioglioma with focal cortical dysplasia: A rare double pathology in an infant with history of seizures.
    Gupta K, Singla N.
    Neuropathology; 2016 Oct 15; 36(5):475-479. PubMed ID: 26991995
    [Abstract] [Full Text] [Related]

  • 12. Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with 18 F-FDG PET-CT values.
    Wang Z, Huang K, Yang X, Shen K, Yang L, Ruan R, Shi X, Wang M, Zhu G, Yang M, Zhang C, Lv S, Yang H, Fan X, Liu S.
    Brain Pathol; 2021 Mar 15; 31(2):346-364. PubMed ID: 33314369
    [Abstract] [Full Text] [Related]

  • 13. Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.
    Park SM, Lim JS, Ramakrishina S, Kim SH, Kim WK, Lee J, Kang HC, Reiter JF, Kim DS, Kim HH, Lee JH.
    Neuron; 2018 Jul 11; 99(1):83-97.e7. PubMed ID: 29937275
    [Abstract] [Full Text] [Related]

  • 14. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
    Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S.
    Acta Neuropathol; 2019 Dec 11; 138(6):885-900. PubMed ID: 31444548
    [Abstract] [Full Text] [Related]

  • 15. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
    Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM.
    Brain; 2022 Apr 29; 145(3):925-938. PubMed ID: 35355055
    [Abstract] [Full Text] [Related]

  • 16. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
    Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL.
    Brain; 2022 Aug 27; 145(8):2704-2720. PubMed ID: 35441233
    [Abstract] [Full Text] [Related]

  • 17. [Expression of PI3K pathway proteins in refractory epilepsy associated with cortical malformation development].
    Ni HC, Sun FH, Piao YS, Ma XL, Lu DH.
    Zhonghua Bing Li Xue Za Zhi; 2012 Jun 27; 41(6):391-5. PubMed ID: 22932407
    [Abstract] [Full Text] [Related]

  • 18. 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 27; 112():137-49. PubMed ID: 25847349
    [Abstract] [Full Text] [Related]

  • 19. mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis.
    Citraro R, Leo A, Constanti A, Russo E, De Sarro G.
    Pharmacol Res; 2016 May 27; 107():333-343. PubMed ID: 27049136
    [Abstract] [Full Text] [Related]

  • 20. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
    D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA.
    Cell Rep; 2017 Dec 26; 21(13):3754-3766. PubMed ID: 29281825
    [Abstract] [Full Text] [Related]

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