메뉴 건너뛰기




Volumn 37, Issue 6, 2015, Pages 553-562

Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma

Author keywords

Epidermal naevus syndromes; Epilepsy; Everolimus; Focal cortical dysplasia type 2; Ganglioglioma; Hemimegalencephaly; Infantile tauopathies; MTOR pathway; Postzygotic somatic mosaicism; Proteus syndrome; Tuberous sclerosis complex

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MICROTUBULE ASSOCIATED PROTEIN; MAPT PROTEIN, HUMAN; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE; TAU PROTEIN;

EID: 84928303405     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.08.010     Document Type: Review
Times cited : (61)

References (109)
  • 2
    • 84857620173 scopus 로고    scopus 로고
    • Acetylated tau, a novel pathological signature in Alzheimer's disease and other tauopathies
    • Irwin D.J., Cohen T.J., Grossman M., Arnold S.E., Xie S.X., Lee V.M.-Y., et al. Acetylated tau, a novel pathological signature in Alzheimer's disease and other tauopathies. Brain 2012, 135:807-818.
    • (2012) Brain , vol.135 , pp. 807-818
    • Irwin, D.J.1    Cohen, T.J.2    Grossman, M.3    Arnold, S.E.4    Xie, S.X.5    Lee, V.M.-Y.6
  • 3
    • 0025988370 scopus 로고
    • Aberrant neuronal development in hemimegalencephaly: immunohistochemical and Golgi studies
    • Takashima S., Chan F., Becker L.E., Kuruta H. Aberrant neuronal development in hemimegalencephaly: immunohistochemical and Golgi studies. Paediatr Neurol 1991, 7:275-280.
    • (1991) Paediatr Neurol , vol.7 , pp. 275-280
    • Takashima, S.1    Chan, F.2    Becker, L.E.3    Kuruta, H.4
  • 4
    • 0031034391 scopus 로고    scopus 로고
    • Hemimegalencephaly: morphological and immunocytochemical study
    • Yasha T.C., Santosh V., Das S., Shankar S.K. Hemimegalencephaly: morphological and immunocytochemical study. Clin Neuropathol 1997, 1997(16):17-22.
    • (1997) Clin Neuropathol , vol.1997 , Issue.16 , pp. 17-22
    • Yasha, T.C.1    Santosh, V.2    Das, S.3    Shankar, S.K.4
  • 5
    • 0346882728 scopus 로고    scopus 로고
    • Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage
    • Flores-Sarnat L., Sarnat H.B., Dávila-Gutiérrez G., Álvarez A. Hemimegalencephaly: part 2. Neuropathology suggests a disorder of cellular lineage. J Child Neurol 2003, 18:776-785.
    • (2003) J Child Neurol , vol.18 , pp. 776-785
    • Flores-Sarnat, L.1    Sarnat, H.B.2    Dávila-Gutiérrez, G.3    Álvarez, A.4
  • 6
    • 67649364701 scopus 로고    scopus 로고
    • Sarnat HB, Curatolo P, editors. Handbook of clinical neurology: malformations of the nervous system, 3rd series. Edinburgh, London, NY, Toronto: Elsevier
    • Flores-Sarnat L. Hemimegalencephaly syndrome. In: Sarnat HB, Curatolo P, editors. Handbook of clinical neurology: malformations of the nervous system, vol. 87, 3rd series. Edinburgh, London, NY, Toronto: Elsevier; 2008. p. 153-76.
    • (2008) Hemimegalencephaly syndrome , vol.87 , pp. 153-176
    • Flores-Sarnat, L.1
  • 7
    • 0029884689 scopus 로고    scopus 로고
    • Synaptogenesis in hemimegalencephaly: the numerical density of asymmetric and symmetric synapses in the cerebral cortex
    • O'Kusky J.R., Akers M.-A., Vinters H.V. Synaptogenesis in hemimegalencephaly: the numerical density of asymmetric and symmetric synapses in the cerebral cortex. Acta Neuropathol 1996, 92:156-163.
    • (1996) Acta Neuropathol , vol.92 , pp. 156-163
    • O'Kusky, J.R.1    Akers, M.-A.2    Vinters, H.V.3
  • 8
    • 0025951136 scopus 로고
    • Epidermal nevus syndrome with hemimegalencephaly. Neuropathological study
    • Sakuta R., Aikawa H., Takashima S., Ryo S. Epidermal nevus syndrome with hemimegalencephaly. Neuropathological study. Brain Dev 1994, 13:260-265.
    • (1994) Brain Dev , vol.13 , pp. 260-265
    • Sakuta, R.1    Aikawa, H.2    Takashima, S.3    Ryo, S.4
  • 9
    • 0036563399 scopus 로고    scopus 로고
    • Hemimegalencephaly: part 1. Genetic, clinical and imaging aspects
    • Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical and imaging aspects. J Child Neurol 2002, 17:373-384.
    • (2002) J Child Neurol , vol.17 , pp. 373-384
    • Flores-Sarnat, L.1
  • 10
    • 67649364701 scopus 로고    scopus 로고
    • Handbook of clinical neurology. Sarnat HB, Curatolo P, editors. Malformations of the nervous system,. Edinburgh: Elsevier
    • Flores-Sarnat L. Hemimegalencephaly syndrome. In: Handbook of clinical neurology. Sarnat HB, Curatolo P, editors. Malformations of the nervous system, vol. 87. Edinburgh: Elsevier; 2008. p. 153-76.
    • (2008) Hemimegalencephaly syndrome , vol.87 , pp. 153-176
    • Flores-Sarnat, L.1
  • 11
    • 84876782327 scopus 로고    scopus 로고
    • Dulac O, Lassonde M, Sarnat HB, editors. Elsevier handbook of clinical neurology: paediatric neurology,3rd series. Edinburgh, London, NY, Toronto: Elsevier
    • Flores-Sarnat L. Epidermal nevus syndrome. In: Dulac O, Lassonde M, Sarnat HB, editors. Elsevier handbook of clinical neurology: paediatric neurology, vol. 111, 3rd series. Edinburgh, London, NY, Toronto: Elsevier; 2013. p. 349-68.
    • (2013) Epidermal nevus syndrome , vol.111 , pp. 349-368
    • Flores-Sarnat, L.1
  • 13
    • 84864402732 scopus 로고    scopus 로고
    • De novo somatic mutations in components of the P13K-AKT3-mTOR pathway cause hemimegalencephaly
    • Lee J.H., Huynh M., Silhavy J.L., Kim S., Dixon-Salazar T., Heiberg A., et al. De novo somatic mutations in components of the P13K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012, 44:941-945.
    • (2012) Nat Genet , vol.44 , pp. 941-945
    • Lee, J.H.1    Huynh, M.2    Silhavy, J.L.3    Kim, S.4    Dixon-Salazar, T.5    Heiberg, A.6
  • 14
    • 84859646140 scopus 로고    scopus 로고
    • Somatic activation of AKT3 causes hemispheric developmental brain malformations
    • Poduri A., Evrony G.D., Cai X., Elhosary P.C., Beroukhim R., Lehtinen M.K., et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 2012, 74:41-48.
    • (2012) Neuron , vol.74 , pp. 41-48
    • Poduri, A.1    Evrony, G.D.2    Cai, X.3    Elhosary, P.C.4    Beroukhim, R.5    Lehtinen, M.K.6
  • 15
    • 84874939010 scopus 로고    scopus 로고
    • Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders
    • Baek S.T., Gibbs E.M., Gleeson J.G., Mathern G.W. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders. Curr Opin Neurol 2013, 26:122-127.
    • (2013) Curr Opin Neurol , vol.26 , pp. 122-127
    • Baek, S.T.1    Gibbs, E.M.2    Gleeson, J.G.3    Mathern, G.W.4
  • 16
    • 84879756120 scopus 로고    scopus 로고
    • Somatic mutation, genomic variation, and neurologic disease
    • Poduri A., Evrony G.D., Cai X., Walsh C.A. Somatic mutation, genomic variation, and neurologic disease. Science 2013, 2013(341):1237758.
    • (2013) Science , vol.2013 , Issue.341 , pp. 1237758
    • Poduri, A.1    Evrony, G.D.2    Cai, X.3    Walsh, C.A.4
  • 19
    • 84928277072 scopus 로고    scopus 로고
    • Comparative analysis of neuronal vulnerability of the anterior cingulate cortex in hereditary and sporadic tauopathies
    • (abstract).
    • Oblak A, Murrell J, Richardson R, Epperson F, Ghetti B. Comparative analysis of neuronal vulnerability of the anterior cingulate cortex in hereditary and sporadic tauopathies. J Neuropathol Exp Neurol 2014;73:597 (abstract).
    • (2014) J Neuropathol Exp Neurol , vol.73 , pp. 597
    • Oblak, A.1    Murrell, J.2    Richardson, R.3    Epperson, F.4    Ghetti, B.5
  • 20
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 23
    • 67649387128 scopus 로고    scopus 로고
    • Sarnat, HB, Curatolo P, editors. Handbook of clinical neurology: malformations of the nervous system, 3rd series. Edinburgh, London, NY, Toronto: Elsevier
    • Curatolo P, Bombardieri R. Tuberous sclerosis. In: Sarnat, HB, Curatolo P, editors. Handbook of clinical neurology: malformations of the nervous system, vol. 87, 3rd series. Edinburgh, London, NY, Toronto: Elsevier; 2008. p 129-51.
    • (2008) Tuberous sclerosis , vol.87 , pp. 129-151
    • Curatolo, P.1    Bombardieri, R.2
  • 26
    • 0032957003 scopus 로고    scopus 로고
    • Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis
    • Johnson M.W., Emelin J.K., Park S.H., Vinters H.V. Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis. Brain Pathol 1999, 9:45-54.
    • (1999) Brain Pathol , vol.9 , pp. 45-54
    • Johnson, M.W.1    Emelin, J.K.2    Park, S.H.3    Vinters, H.V.4
  • 29
    • 84896320213 scopus 로고    scopus 로고
    • Fetal brain mTOR signaling pathway activation in tuberous sclerosis complex
    • Tsai V., Parker W., Orlova K.A., Baybis M., Chi A.W.S., Berg B.D., et al. Fetal brain mTOR signaling pathway activation in tuberous sclerosis complex. Cereb Cortex 2014, 24:315-327.
    • (2014) Cereb Cortex , vol.24 , pp. 315-327
    • Tsai, V.1    Parker, W.2    Orlova, K.A.3    Baybis, M.4    Chi, A.W.S.5    Berg, B.D.6
  • 30
    • 84871185406 scopus 로고    scopus 로고
    • Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
    • Jóźwiak S., Stein K., Kotulska K. Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. Fut Oncol 2012, 8:1515-1523.
    • (2012) Fut Oncol , vol.8 , pp. 1515-1523
    • Jóźwiak, S.1    Stein, K.2    Kotulska, K.3
  • 31
    • 33644827461 scopus 로고    scopus 로고
    • Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
    • Franz D.N., Leonard J., Tudor C., Chuck G., Care M., Sethuraman G., et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006, 59:490-498.
    • (2006) Ann Neurol , vol.59 , pp. 490-498
    • Franz, D.N.1    Leonard, J.2    Tudor, C.3    Chuck, G.4    Care, M.5    Sethuraman, G.6
  • 32
    • 53549125236 scopus 로고    scopus 로고
    • Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex
    • Koenig M.K., Butler I.J., Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol 2008, 23:1238-1239.
    • (2008) J Child Neurol , vol.23 , pp. 1238-1239
    • Koenig, M.K.1    Butler, I.J.2    Northrup, H.3
  • 33
    • 78951473590 scopus 로고    scopus 로고
    • Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex
    • Yalon M., Ben-Sira L., Constantini S., Torin A. Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex. Childs Nerv Syst 2011, 27:179-181.
    • (2011) Childs Nerv Syst , vol.27 , pp. 179-181
    • Yalon, M.1    Ben-Sira, L.2    Constantini, S.3    Torin, A.4
  • 34
    • 84880511842 scopus 로고    scopus 로고
    • Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
    • Franz D.N., Agricola K.D., Tudor C.A., Krueger D.A. Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. J Child Neurol 2013, 28:602-607.
    • (2013) J Child Neurol , vol.28 , pp. 602-607
    • Franz, D.N.1    Agricola, K.D.2    Tudor, C.A.3    Krueger, D.A.4
  • 36
    • 84883323560 scopus 로고    scopus 로고
    • Mammalian target of rapamycin (mTOR) pathways in neurological diseases
    • Wong M. Mammalian target of rapamycin (mTOR) pathways in neurological diseases. Biomed J 2013, 36:40-50.
    • (2013) Biomed J , vol.36 , pp. 40-50
    • Wong, M.1
  • 37
    • 84872088946 scopus 로고    scopus 로고
    • Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled, phase 3 trial
    • Franz D.N., Belousova E., Sparagana S., Bebin E.M., Frost M., Kuperman R., et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled, phase 3 trial. Lancet 2013, 381:125-132.
    • (2013) Lancet , vol.381 , pp. 125-132
    • Franz, D.N.1    Belousova, E.2    Sparagana, S.3    Bebin, E.M.4    Frost, M.5    Kuperman, R.6
  • 38
    • 78951473590 scopus 로고    scopus 로고
    • Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex
    • Yalon M., Ben-Sira L., Constantini S., Toren A. Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex. Childs Nerv Syst 2011, 27:179-181.
    • (2011) Childs Nerv Syst , vol.27 , pp. 179-181
    • Yalon, M.1    Ben-Sira, L.2    Constantini, S.3    Toren, A.4
  • 39
    • 84655166921 scopus 로고    scopus 로고
    • Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex
    • Perek-Polnik M., Joswiak S., Jurkiewicz E., Perek D., Kotulska K. Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. Eur J Paediatr Neurol 2012, 16:83-85.
    • (2012) Eur J Paediatr Neurol , vol.16 , pp. 83-85
    • Perek-Polnik, M.1    Joswiak, S.2    Jurkiewicz, E.3    Perek, D.4    Kotulska, K.5
  • 40
    • 0036823486 scopus 로고    scopus 로고
    • Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children
    • Vigliano P., Canavese C., Bobba B., Genitori L., Papalia F., Padovan S., et al. Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children. J Child Neurol 2002, 17:752-758.
    • (2002) J Child Neurol , vol.17 , pp. 752-758
    • Vigliano, P.1    Canavese, C.2    Bobba, B.3    Genitori, L.4    Papalia, F.5    Padovan, S.6
  • 42
    • 23944459024 scopus 로고    scopus 로고
    • Longitudinal MRI findings in a patient with hemimegalencephaly associated with tuberous sclerosis
    • Sakuma H., Iwata O., Sasaki M. Longitudinal MRI findings in a patient with hemimegalencephaly associated with tuberous sclerosis. Brain Dev 2005, 27:458-461.
    • (2005) Brain Dev , vol.27 , pp. 458-461
    • Sakuma, H.1    Iwata, O.2    Sasaki, M.3
  • 43
    • 18144372750 scopus 로고    scopus 로고
    • Hemimegalencephaly and tuberous sclerosis complex
    • Cartwright M.S., McCarthy S.C., Roach E.S. Hemimegalencephaly and tuberous sclerosis complex. Neurology 2005, 64:1634.
    • (2005) Neurology , vol.64 , pp. 1634
    • Cartwright, M.S.1    McCarthy, S.C.2    Roach, E.S.3
  • 44
    • 0028917340 scopus 로고
    • Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathological features and proposal for a grading system
    • Mischel P.S., Nguyen L., Vinters H.V. Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathological features and proposal for a grading system. J Neuropathol Exp Neurol 1995, 54:137-153.
    • (1995) J Neuropathol Exp Neurol , vol.54 , pp. 137-153
    • Mischel, P.S.1    Nguyen, L.2    Vinters, H.V.3
  • 45
    • 12144288765 scopus 로고    scopus 로고
    • Terminology and classification of the cortical dysplasias
    • Palmini A., Najm I., Avanzini G., et al. Terminology and classification of the cortical dysplasias. Neurology 2004, 62:S2-S8.
    • (2004) Neurology , vol.62 , pp. S2-S8
    • Palmini, A.1    Najm, I.2    Avanzini, G.3
  • 46
    • 46749129783 scopus 로고    scopus 로고
    • Different features of histopathological subtypes of pediatric focal cortical dysplasia
    • Krsek P., Maton B., Korman B., Pacheco-Jacome E., Jayakar P., Dunoyer C., et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol 2008, 63:758-769.
    • (2008) Ann Neurol , vol.63 , pp. 758-769
    • Krsek, P.1    Maton, B.2    Korman, B.3    Pacheco-Jacome, E.4    Jayakar, P.5    Dunoyer, C.6
  • 47
    • 77956202907 scopus 로고    scopus 로고
    • Focal cortical dysplasias: clinical implication of neuropathological classification systems
    • Spreafico R., Blümcke I. Focal cortical dysplasias: clinical implication of neuropathological classification systems. Acta Neuropathol 2010, 120:359-367.
    • (2010) Acta Neuropathol , vol.120 , pp. 359-367
    • Spreafico, R.1    Blümcke, I.2
  • 48
    • 78651274775 scopus 로고    scopus 로고
    • The clinico-pathological spectrum of Focal Cortical Dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
    • Blümcke I., Thom M., Aronica E., Armstrong D.D., Vinters H.V., Palmini A., et al. The clinico-pathological spectrum of Focal Cortical Dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011, 52:158-174.
    • (2011) Epilepsia , vol.52 , pp. 158-174
    • Blümcke, I.1    Thom, M.2    Aronica, E.3    Armstrong, D.D.4    Vinters, H.V.5    Palmini, A.6
  • 49
    • 84865014596 scopus 로고    scopus 로고
    • Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias
    • Coras R., de Boer O.J., Armstrong D., Becker A., Jacques T.S., Miyata H., et al. Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias. Epilepsia 2012, 53:1341-1348.
    • (2012) Epilepsia , vol.53 , pp. 1341-1348
    • Coras, R.1    de Boer, O.J.2    Armstrong, D.3    Becker, A.4    Jacques, T.S.5    Miyata, H.6
  • 50
    • 84875178160 scopus 로고    scopus 로고
    • Radial micro-columnar cortical architecture: maturational arrest or focal cortical dysplasia?
    • Sarnat H.B., Flores-Sarnat L. Radial micro-columnar cortical architecture: maturational arrest or focal cortical dysplasia?. Pediatr Neurol 2013, 48:259-270.
    • (2013) Pediatr Neurol , vol.48 , pp. 259-270
    • Sarnat, H.B.1    Flores-Sarnat, L.2
  • 52
    • 0030691110 scopus 로고    scopus 로고
    • Focal transmantle dysplasia in specific malformations of cortical development
    • Barkovich A.J., Kuzniecky R.I., Boller A.W., Grant P.E. Focal transmantle dysplasia in specific malformations of cortical development. Neurology 1997, 49:1148-1152.
    • (1997) Neurology , vol.49 , pp. 1148-1152
    • Barkovich, A.J.1    Kuzniecky, R.I.2    Boller, A.W.3    Grant, P.E.4
  • 53
    • 3042533890 scopus 로고    scopus 로고
    • Supratentorial gangliogliomas: histopathological grading and tumor recurrence in 184 patients with a median follow-up of 8years
    • Luyken C., Blümcke I., Fimmers R., Urbach H., Wiestler O.D., Schramm J. Supratentorial gangliogliomas: histopathological grading and tumor recurrence in 184 patients with a median follow-up of 8years. Cancer 2004, 101:146.
    • (2004) Cancer , vol.101 , pp. 146
    • Luyken, C.1    Blümcke, I.2    Fimmers, R.3    Urbach, H.4    Wiestler, O.D.5    Schramm, J.6
  • 54
    • 0036303343 scopus 로고    scopus 로고
    • Gangliogliomas: an intriguing tumor entity associated with focal epilepsies
    • Blümcke I., Wiestler O.D. Gangliogliomas: an intriguing tumor entity associated with focal epilepsies. J Neuropathol Exp Neurol 2002, 61:575-584.
    • (2002) J Neuropathol Exp Neurol , vol.61 , pp. 575-584
    • Blümcke, I.1    Wiestler, O.D.2
  • 56
    • 0028952268 scopus 로고
    • Ganglioglioma with neurofibrillary tangles (NFTs): neoplastic NFTs share antigenic determinants with NFTs of Alzheimer's disease
    • Soffer D., Umansky F., Goldman J.E. Ganglioglioma with neurofibrillary tangles (NFTs): neoplastic NFTs share antigenic determinants with NFTs of Alzheimer's disease. Acta Neuropathol 1995, 89:451-453.
    • (1995) Acta Neuropathol , vol.89 , pp. 451-453
    • Soffer, D.1    Umansky, F.2    Goldman, J.E.3
  • 57
    • 0034911946 scopus 로고    scopus 로고
    • Tau-associated neuropathology in ganglion cell tumours increases with patient age but appears unrelated to ApoE genotype
    • Brat D.J., Gearing M., Golddthwaite P.T., Wainer B.H., Burger P.C. Tau-associated neuropathology in ganglion cell tumours increases with patient age but appears unrelated to ApoE genotype. Neuropathol Appl Neurobiol 2001, 27:197-205.
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 197-205
    • Brat, D.J.1    Gearing, M.2    Golddthwaite, P.T.3    Wainer, B.H.4    Burger, P.C.5
  • 60
    • 0004289354 scopus 로고    scopus 로고
    • Lippincott Williams & Wilkins, Philadelphia
    • Barkovich A.J. Pediatric neuroimaging 2005, Lippincott Williams & Wilkins, Philadelphia, p. 362-364. 4th ed.
    • (2005) Pediatric neuroimaging , pp. 362-364
    • Barkovich, A.J.1
  • 61
    • 84882238982 scopus 로고    scopus 로고
    • Dysembryoplastic neuroepithelial tumors share with pleomorphic xnthoastrocytomas and gangliogliomas BRAFV600E mutation and expression
    • Chappé C., Padovani L., Scavarda D., Forest F., Nanni-Metellus I., Loundou A., et al. Dysembryoplastic neuroepithelial tumors share with pleomorphic xnthoastrocytomas and gangliogliomas BRAFV600E mutation and expression. Brain Pathol 2013, 23:574-583.
    • (2013) Brain Pathol , vol.23 , pp. 574-583
    • Chappé, C.1    Padovani, L.2    Scavarda, D.3    Forest, F.4    Nanni-Metellus, I.5    Loundou, A.6
  • 62
    • 84857029808 scopus 로고    scopus 로고
    • Hyperphosphorylated tau in young and middle-aged subjects
    • Elobeid A., Soininen H., Alafuzoff I. Hyperphosphorylated tau in young and middle-aged subjects. Acta Neuropathol 2012, 123:97-104.
    • (2012) Acta Neuropathol , vol.123 , pp. 97-104
    • Elobeid, A.1    Soininen, H.2    Alafuzoff, I.3
  • 64
    • 84887401918 scopus 로고    scopus 로고
    • The HSV-1 iBAC amplicon vector for functional genomics studied into the genetic mechanisms of neurodegenerative disease
    • Lawler S.E., Senior S., Ingelsson M., Saeki Y., Hyman B.T., Monaco A.E., et al. The HSV-1 iBAC amplicon vector for functional genomics studied into the genetic mechanisms of neurodegenerative disease. Mol Ther 2004, 9:S301-S302.
    • (2004) Mol Ther , vol.9 , pp. S301-S302
    • Lawler, S.E.1    Senior, S.2    Ingelsson, M.3    Saeki, Y.4    Hyman, B.T.5    Monaco, A.E.6
  • 65
    • 0040141570 scopus 로고    scopus 로고
    • Interaction of tau with the neural membrane cortex is regulated by phosphorylation at sites that are modified in paired helical filaments
    • Maas T., Eidenmüller J., Brandt R. Interaction of tau with the neural membrane cortex is regulated by phosphorylation at sites that are modified in paired helical filaments. J Biol Chem 2000, 275:15733-15740.
    • (2000) J Biol Chem , vol.275 , pp. 15733-15740
    • Maas, T.1    Eidenmüller, J.2    Brandt, R.3
  • 66
    • 20044390554 scopus 로고    scopus 로고
    • Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly
    • Crino P.B. Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly. J Child Neurol 2005, 20:330-336.
    • (2005) J Child Neurol , vol.20 , pp. 330-336
    • Crino, P.B.1
  • 68
    • 84855958205 scopus 로고    scopus 로고
    • mTOR: a pathogenic signaling pathway in developmental brain malformations
    • Crino PB. mTOR: a pathogenic signaling pathway in developmental brain malformations. Trends Mol Med 2011;17:734-42.
    • (2011) Trends Mol Med , vol.17 , pp. 734-742
    • Crino, P.B.1
  • 69
    • 67349087945 scopus 로고    scopus 로고
    • Misfolded tau protein and disease modifying pathways in transgenic rodent models of human tauopathies
    • Zilka N., Korenova M., Novak M. Misfolded tau protein and disease modifying pathways in transgenic rodent models of human tauopathies. Acta Neuropathol 2009, 118:71-86.
    • (2009) Acta Neuropathol , vol.118 , pp. 71-86
    • Zilka, N.1    Korenova, M.2    Novak, M.3
  • 71
    • 0030053349 scopus 로고    scopus 로고
    • Enhanced expression of microtubule-associated protein-2 in large neurons of cortical dysplasia
    • Yamanouchi H., Zhang W., Jay V., Becker L.E. Enhanced expression of microtubule-associated protein-2 in large neurons of cortical dysplasia. Ann Neurol 1996, 39:57-61.
    • (1996) Ann Neurol , vol.39 , pp. 57-61
    • Yamanouchi, H.1    Zhang, W.2    Jay, V.3    Becker, L.E.4
  • 72
    • 84891831616 scopus 로고    scopus 로고
    • Glial and neuronal tau pathology in tauopathies: characterization of disease-specific phenotypes and tau pathology progression
    • Ferrer I., López-González I., Carmona M., Arregui L., Dalfó E., Torrejón-Escribano B., et al. Glial and neuronal tau pathology in tauopathies: characterization of disease-specific phenotypes and tau pathology progression. J Neuropathol Exp Neurol 2014, 73:81-97.
    • (2014) J Neuropathol Exp Neurol , vol.73 , pp. 81-97
    • Ferrer, I.1    López-González, I.2    Carmona, M.3    Arregui, L.4    Dalfó, E.5    Torrejón-Escribano, B.6
  • 73
  • 74
    • 84928301177 scopus 로고
    • Microtubules: structural, functional, and clinical aspects
    • Academic Press, San Diego, P.J. Marangos, I.C. Campbell, R.M. Cohen (Eds.)
    • Wallin M. Microtubules: structural, functional, and clinical aspects. Neuronal and glial proteins: structure, function and clinical application 1988, 321-338. Academic Press, San Diego. P.J. Marangos, I.C. Campbell, R.M. Cohen (Eds.).
    • (1988) Neuronal and glial proteins: structure, function and clinical application , pp. 321-338
    • Wallin, M.1
  • 75
    • 84855170213 scopus 로고    scopus 로고
    • Microtubules in bacteria: ancient tubulins build a five-protofilament homolog of the eukaryotic cytoskeleton
    • Pilhofer M., Ladinsky M.S., McDowall A.W., Petroni G., Jensen G.J. Microtubules in bacteria: ancient tubulins build a five-protofilament homolog of the eukaryotic cytoskeleton. PLoS Biol 2011, 9:e1001213.
    • (2011) PLoS Biol , vol.9 , pp. e1001213
    • Pilhofer, M.1    Ladinsky, M.S.2    McDowall, A.W.3    Petroni, G.4    Jensen, G.J.5
  • 76
    • 0023357739 scopus 로고
    • Levels of microtubules during the meiotic maturation of the Xenopus oocyte
    • Jessus C., Thibier C., Ozon R. Levels of microtubules during the meiotic maturation of the Xenopus oocyte. J Cell Sci 1987, 87:705-712.
    • (1987) J Cell Sci , vol.87 , pp. 705-712
    • Jessus, C.1    Thibier, C.2    Ozon, R.3
  • 77
    • 0023937164 scopus 로고
    • A transient array of parallel microtubules in frog eggs: potential tracks for a cytoplasmic rotation that specifies the dorso-ventral axis
    • Elinson R.P., Rowning B. A transient array of parallel microtubules in frog eggs: potential tracks for a cytoplasmic rotation that specifies the dorso-ventral axis. Dev Biol 1988, 128:185-197.
    • (1988) Dev Biol , vol.128 , pp. 185-197
    • Elinson, R.P.1    Rowning, B.2
  • 78
    • 0026493389 scopus 로고
    • Microtubules and cytoplasmic reorganization in the frog egg. In: Bearer EL, editor
    • San Diego: Academic Press
    • Houliston E, Elinson RP. Microtubules and cytoplasmic reorganization in the frog egg. In: Bearer EL, editor. Current topics in developmental biology, vol. 26. San Diego: Academic Press; 1992. p. 53-70.
    • (1992) Current topics in developmental biology , vol.26 , pp. 53-70
    • Houliston, E.1    Elinson, R.P.2
  • 79
    • 84926647996 scopus 로고    scopus 로고
    • Cytoskeletal and signaling mechanisms of neurite formation
    • in press.
    • Sainath R, Gallo G. Cytoskeletal and signaling mechanisms of neurite formation. Cell Tissue Res 2014, in press.
    • (2014) Cell Tissue Res
    • Sainath, R.1    Gallo, G.2
  • 80
    • 84857646218 scopus 로고    scopus 로고
    • Widespread tau and amyloid-beta pathology many years after a single traumatic brain injury in humans
    • Johnson V.E., Stewart W., Smith D.H. Widespread tau and amyloid-beta pathology many years after a single traumatic brain injury in humans. Brain Pathol 2012, 22:142-149.
    • (2012) Brain Pathol , vol.22 , pp. 142-149
    • Johnson, V.E.1    Stewart, W.2    Smith, D.H.3
  • 81
    • 84862128944 scopus 로고    scopus 로고
    • Simultaneous analysis of cerebrospinal fluid biomarkers using microsphere-based xMAP multiplex technology for early detection of Alzheimer's disease
    • Kang J.H., Vaanderstichele H., Trojanowski J.Q., Shaw L.M. Simultaneous analysis of cerebrospinal fluid biomarkers using microsphere-based xMAP multiplex technology for early detection of Alzheimer's disease. Methods 2012, 56:484-493.
    • (2012) Methods , vol.56 , pp. 484-493
    • Kang, J.H.1    Vaanderstichele, H.2    Trojanowski, J.Q.3    Shaw, L.M.4
  • 82
    • 84862215553 scopus 로고    scopus 로고
    • Phosphorylated tau/amyloid beta 1-42 ratio in ventricular cerebrospinal fluid reflects outcome in idiopathic normal pressure hydrocephalus
    • Patel S., Lee E.B., Xie S.X., Law A., Jackson E.M., Arnold S.E., et al. Phosphorylated tau/amyloid beta 1-42 ratio in ventricular cerebrospinal fluid reflects outcome in idiopathic normal pressure hydrocephalus. Fluids Barriers CNS 2012, 9:7.
    • (2012) Fluids Barriers CNS , vol.9 , pp. 7
    • Patel, S.1    Lee, E.B.2    Xie, S.X.3    Law, A.4    Jackson, E.M.5    Arnold, S.E.6
  • 83
    • 30544449810 scopus 로고    scopus 로고
    • Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway
    • Jaworski J., Spangler S., Seeburg D.P., Hoogenraad C.C., Sheng M. Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway. J Neurosci 2005, 25:11300-11312.
    • (2005) J Neurosci , vol.25 , pp. 11300-11312
    • Jaworski, J.1    Spangler, S.2    Seeburg, D.P.3    Hoogenraad, C.C.4    Sheng, M.5
  • 84
    • 33646227185 scopus 로고    scopus 로고
    • Dendritic pathology in mental retardation; from molecular genetics to neurobiology
    • Dierssen M., Ramakers G.J.A. Dendritic pathology in mental retardation; from molecular genetics to neurobiology. Genes Brain Behav 2006, 5(Suppl. 2):48-60.
    • (2006) Genes Brain Behav , vol.5 , pp. 48-60
    • Dierssen, M.1    Ramakers, G.J.A.2
  • 86
    • 79959986145 scopus 로고    scopus 로고
    • An increase in basal BDNF provokes hyperactivation of the Akt-mammalian target of rapamycin pathway and deregulation of local dendritic translation in a mouse model of Down's syndrome
    • Troca-Marín J.A., Alves-Sampaio A., Montesinos M.L. An increase in basal BDNF provokes hyperactivation of the Akt-mammalian target of rapamycin pathway and deregulation of local dendritic translation in a mouse model of Down's syndrome. J Neurosci 2011, 31:9445-9455.
    • (2011) J Neurosci , vol.31 , pp. 9445-9455
    • Troca-Marín, J.A.1    Alves-Sampaio, A.2    Montesinos, M.L.3
  • 87
    • 84859420878 scopus 로고    scopus 로고
    • Altered mTOR signalling and enhanced CYFIP2 expression levels in subjects with fragile-X syndrome
    • Hoeffer C.A., Sánchez E., Hagerman R.J., Mu Y., Nguyen D.V., Wong H., et al. Altered mTOR signalling and enhanced CYFIP2 expression levels in subjects with fragile-X syndrome. Gene Brain Behav 2012, 11:332-341.
    • (2012) Gene Brain Behav , vol.11 , pp. 332-341
    • Hoeffer, C.A.1    Sánchez, E.2    Hagerman, R.J.3    Mu, Y.4    Nguyen, D.V.5    Wong, H.6
  • 88
    • 84899490503 scopus 로고    scopus 로고
    • Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex
    • Ruppe V., Dilsiz P., Reiss C.S., Carlson C., Devinsky O., Zagzag D., et al. Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex. Epilepsia 2014, 55:539-550.
    • (2014) Epilepsia , vol.55 , pp. 539-550
    • Ruppe, V.1    Dilsiz, P.2    Reiss, C.S.3    Carlson, C.4    Devinsky, O.5    Zagzag, D.6
  • 89
    • 34547738571 scopus 로고    scopus 로고
    • Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly
    • Aronica E., Boer K., Baybis M., Yu J., Crino P.B. Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly. Acta Neuropathol 2007, 114:287-293.
    • (2007) Acta Neuropathol , vol.114 , pp. 287-293
    • Aronica, E.1    Boer, K.2    Baybis, M.3    Yu, J.4    Crino, P.B.5
  • 90
    • 70349221090 scopus 로고    scopus 로고
    • Focal brain malformations: seizures, signaling, sequencing
    • Crino P.B. Focal brain malformations: seizures, signaling, sequencing. Epilepsia 2009, 50(Suppl. 9):3-8.
    • (2009) Epilepsia , vol.50 , pp. 3-8
    • Crino, P.B.1
  • 91
    • 33750587650 scopus 로고    scopus 로고
    • Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia
    • Ljungberg M.C., Bhattacharjee M.B., Lu Y., Armstrong D.L., Yoshor D., Swann J.W., et al. Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia. Ann Neurol 2006, 60:420-429.
    • (2006) Ann Neurol , vol.60 , pp. 420-429
    • Ljungberg, M.C.1    Bhattacharjee, M.B.2    Lu, Y.3    Armstrong, D.L.4    Yoshor, D.5    Swann, J.W.6
  • 92
    • 0002032083 scopus 로고
    • Cortical dysplasia in epilepsy: a study of material from surgical resections for intractable epilepsy
    • Churchill Livingstone, London, UK, T.A. Pedley, B.S. Meldrum (Eds.)
    • Janota I., Polkey C.E. Cortical dysplasia in epilepsy: a study of material from surgical resections for intractable epilepsy. Recent advances in epilepsy 1992, 37-49. Churchill Livingstone, London, UK. 5th ed. T.A. Pedley, B.S. Meldrum (Eds.).
    • (1992) Recent advances in epilepsy , pp. 37-49
    • Janota, I.1    Polkey, C.E.2
  • 93
    • 0001842711 scopus 로고
    • The development of laminated patterns in the mammalian neocortex
    • Raven Press, New York, G. Connelly (Ed.)
    • Caviness V.S., Pinto-Lord M.C., Evrard P. The development of laminated patterns in the mammalian neocortex. Morphogenesis and pattern formation 1981, 103-126. Raven Press, New York. G. Connelly (Ed.).
    • (1981) Morphogenesis and pattern formation , pp. 103-126
    • Caviness, V.S.1    Pinto-Lord, M.C.2    Evrard, P.3
  • 94
    • 84926328579 scopus 로고    scopus 로고
    • Genetics of epilepsy: morphogenesis timing of genetically-programmed brain malformations in relation to epilepsy. Steinlein O, editor of special issue
    • Sarnat HB, Flores-Sarnat L. Genetics of epilepsy: morphogenesis timing of genetically-programmed brain malformations in relation to epilepsy. Steinlein O, editor of special issue. Progr Brain Res 2014;213:181-98.
    • (2014) Progr Brain Res , vol.213 , pp. 181-198
    • Sarnat, H.B.1    Flores-Sarnat, L.2
  • 95
  • 96
    • 0034887907 scopus 로고    scopus 로고
    • Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions
    • Niida Y., Stemmer-Rachamimov A.O., Logrip M., Tapon D., Pérez R., Kwiatkowski D.J., et al. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 2001, 69:493-503.
    • (2001) Am J Hum Genet , vol.69 , pp. 493-503
    • Niida, Y.1    Stemmer-Rachamimov, A.O.2    Logrip, M.3    Tapon, D.4    Pérez, R.5    Kwiatkowski, D.J.6
  • 98
    • 33645518879 scopus 로고    scopus 로고
    • Similarity of balloon cells in focal cortical dysplasia to giant cells in tuberous sclerosis
    • Jóźwiak J., Kotulska K., Jóźwiak S. Similarity of balloon cells in focal cortical dysplasia to giant cells in tuberous sclerosis. Epilepsia 2006, 47:805.
    • (2006) Epilepsia , vol.47 , pp. 805
    • Jóźwiak, J.1    Kotulska, K.2    Jóźwiak, S.3
  • 101
    • 84899486141 scopus 로고    scopus 로고
    • Epilepsy related to developmental tumors and malformations of cortical development
    • Aronica E., Crino P.B. Epilepsy related to developmental tumors and malformations of cortical development. Neurotherapeutics 2014, 11:251-268.
    • (2014) Neurotherapeutics , vol.11 , pp. 251-268
    • Aronica, E.1    Crino, P.B.2
  • 102
    • 33748181142 scopus 로고    scopus 로고
    • Epileptogenesis in pediatric cortical dysplasia: the dysmature cerebral developmental hypothesis
    • Cepeda C., André V.M., Levine M.S., Salamon N., Miyata H., Vinters H.V., et al. Epileptogenesis in pediatric cortical dysplasia: the dysmature cerebral developmental hypothesis. Epilepsy Behav 2006, 9:219-235.
    • (2006) Epilepsy Behav , vol.9 , pp. 219-235
    • Cepeda, C.1    André, V.M.2    Levine, M.S.3    Salamon, N.4    Miyata, H.5    Vinters, H.V.6
  • 103
    • 0037039358 scopus 로고    scopus 로고
    • A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
    • Tang S.J., Reis G., Kang H., Gingras A.C., Sonenberg N., Schuman E.M. A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus. Proc Natl Acad Sci U S A 2002, 99:467-472.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 467-472
    • Tang, S.J.1    Reis, G.2    Kang, H.3    Gingras, A.C.4    Sonenberg, N.5    Schuman, E.M.6
  • 104
    • 17444422913 scopus 로고    scopus 로고
    • Synaptogenèse et epigenèse cerebrales [Brain synaptogenesis and epigenesist]
    • Bourgeois J.P. Synaptogenèse et epigenèse cerebrales [Brain synaptogenesis and epigenesist]. Med Sci (Paris) 2005, 21:428-433.
    • (2005) Med Sci (Paris) , vol.21 , pp. 428-433
    • Bourgeois, J.P.1
  • 105
    • 77954512649 scopus 로고    scopus 로고
    • Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II
    • Cepeda C., André V.M., Yamazaki I., Hauptman J.S., Chen J.Y., Vinters H.V., et al. Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II. Epilepsia 2010, 51(Suppl. 3):160-165.
    • (2010) Epilepsia , vol.51 , pp. 160-165
    • Cepeda, C.1    André, V.M.2    Yamazaki, I.3    Hauptman, J.S.4    Chen, J.Y.5    Vinters, H.V.6
  • 106
    • 79952763934 scopus 로고    scopus 로고
    • Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex1 (mTORC1) blocks long-term synaptic plasticity and memory storage
    • Stoica L., Zhu P.J., Huang W., Zhou H., Kozma S.C., Costa-Mattioli M. Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex1 (mTORC1) blocks long-term synaptic plasticity and memory storage. Proc Natl Acad Sci U S A 2011, 108:3791-3796.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 3791-3796
    • Stoica, L.1    Zhu, P.J.2    Huang, W.3    Zhou, H.4    Kozma, S.C.5    Costa-Mattioli, M.6
  • 107
    • 84890796647 scopus 로고    scopus 로고
    • Cell injury and premature neurodegeneration in focal malformations of cortical development
    • Iver A., Prabowo A., Aninnk J., Spliet W.G., van Rijen P.C., Aronica E. Cell injury and premature neurodegeneration in focal malformations of cortical development. Brain Pathol 2014, 24:1-17.
    • (2014) Brain Pathol , vol.24 , pp. 1-17
    • Iver, A.1    Prabowo, A.2    Aninnk, J.3    Spliet, W.G.4    van Rijen, P.C.5    Aronica, E.6
  • 108
    • 84872729419 scopus 로고    scopus 로고
    • Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy
    • Holth J.K., Bomben V.C., Reed J.G., Inoue T., Younkin L., Younkin S.G., et al. Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy. J Neurosci 2013, 33:1651-1659.
    • (2013) J Neurosci , vol.33 , pp. 1651-1659
    • Holth, J.K.1    Bomben, V.C.2    Reed, J.G.3    Inoue, T.4    Younkin, L.5    Younkin, S.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.