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Volumn 30, Issue 14, 2015, Pages 1954-1962

Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex

Author keywords

cerebellum; magnetic resonance imaging; mechanistic target of rapamycin; mouse models; Purkinje cell

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; RAPAMYCIN; TARGET OF RAPAMYCIN KINASE;

EID: 84947068923     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073815600870     Document Type: Article
Times cited : (37)

References (115)
  • 3
    • 84908232014 scopus 로고    scopus 로고
    • The neurology of mTOR
    • Lipton JO, Sahin M,. The neurology of mTOR. Neuron. 2014; 84: 275-291.
    • (2014) Neuron , vol.84 , pp. 275-291
    • Lipton, J.O.1    Sahin, M.2
  • 4
    • 0034778130 scopus 로고    scopus 로고
    • Neuropathology of tuberous sclerosis
    • Mizuguchi M, Takashima S,. Neuropathology of tuberous sclerosis. Brain Dev. 2001; 23: 508-515.
    • (2001) Brain Dev , vol.23 , pp. 508-515
    • Mizuguchi, M.1    Takashima, S.2
  • 5
    • 0030942875 scopus 로고    scopus 로고
    • Cortical tuber count: A biomarker indicating neurologic severity of tuberous sclerosis complex
    • Goodman M, Lamm SH, Engel A, et al. Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol. 1997; 12: 85-90.
    • (1997) J Child Neurol , vol.12 , pp. 85-90
    • Goodman, M.1    Lamm, S.H.2    Engel, A.3
  • 6
    • 58149250332 scopus 로고    scopus 로고
    • Are cortical tubers epileptogenic? Evidence from electrocorticography
    • Major P, Rakowski S, Simon MV, et al. Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia. 2009; 50: 147-154.
    • (2009) Epilepsia , vol.50 , pp. 147-154
    • Major, P.1    Rakowski, S.2    Simon, M.V.3
  • 7
    • 33646841792 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Correlation of magnetic resonance imaging (MRI) findings with comorbidities
    • Wong V, Khong PL,. Tuberous sclerosis complex: correlation of magnetic resonance imaging (MRI) findings with comorbidities. J Child Neurol. 2006; 21: 99-105.
    • (2006) J Child Neurol , vol.21 , pp. 99-105
    • Wong, V.1    Khong, P.L.2
  • 8
    • 79953225914 scopus 로고    scopus 로고
    • Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
    • Numis AL, Major P, Montenegro MA, et al. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology. 2011; 76: 981-987.
    • (2011) Neurology , vol.76 , pp. 981-987
    • Numis, A.L.1    Major, P.2    Montenegro, M.A.3
  • 9
    • 0036263937 scopus 로고    scopus 로고
    • Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex
    • Bolton PF, Park RJ, Higgins JN, et al. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain. 2002; 125 (pt 6): 1247-1255.
    • (2002) Brain , vol.125 , pp. 1247-1255
    • Bolton, P.F.1    Park, R.J.2    Higgins, J.N.3
  • 10
    • 78651341863 scopus 로고    scopus 로고
    • Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex
    • Kaczorowska M, Jurkiewicz E, Domanska-Pakiela D, et al. Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia. 2011; 52: 22-27.
    • (2011) Epilepsia , vol.52 , pp. 22-27
    • Kaczorowska, M.1    Jurkiewicz, E.2    Domanska-Pakiela, D.3
  • 11
    • 84908155222 scopus 로고    scopus 로고
    • Optimal management of seizures associated with tuberous sclerosis complex: Current and emerging options
    • Wang S, Fallah A,. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat. 2014; 10: 2021-2030.
    • (2014) Neuropsychiatr Dis Treat , vol.10 , pp. 2021-2030
    • Wang, S.1    Fallah, A.2
  • 12
    • 84871289512 scopus 로고    scopus 로고
    • Intrinsic epileptogenicity of cortical tubers revealed by intracranial EEG monitoring
    • Mohamed AR, Bailey CA, Freeman JL, et al. Intrinsic epileptogenicity of cortical tubers revealed by intracranial EEG monitoring. Neurology. 2012; 79: 2249-2257.
    • (2012) Neurology , vol.79 , pp. 2249-2257
    • Mohamed, A.R.1    Bailey, C.A.2    Freeman, J.L.3
  • 13
    • 84904403492 scopus 로고    scopus 로고
    • Severity of manifestations in tuberous sclerosis complex in relation to genotype
    • Kothare SV, Singh K, Chalifoux JR, et al. Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia. 2014; 55: 1025-1029.
    • (2014) Epilepsia , vol.55 , pp. 1025-1029
    • Kothare, S.V.1    Singh, K.2    Chalifoux, J.R.3
  • 14
    • 0035167932 scopus 로고    scopus 로고
    • Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
    • Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001; 68: 64-80.
    • (2001) Am J Hum Genet , vol.68 , pp. 64-80
    • Dabora, S.L.1    Jozwiak, S.2    Franz, D.N.3
  • 15
    • 42449103568 scopus 로고    scopus 로고
    • Characterization of autism in young children with tuberous sclerosis complex
    • Jeste SS, Sahin M, Bolton P, et al. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008; 23: 520-525.
    • (2008) J Child Neurol , vol.23 , pp. 520-525
    • Jeste, S.S.1    Sahin, M.2    Bolton, P.3
  • 16
    • 6344271762 scopus 로고    scopus 로고
    • Autism and tuberous sclerosis
    • Wiznitzer M,. Autism and tuberous sclerosis. J Child Neurol. 2004; 19: 675-679.
    • (2004) J Child Neurol , vol.19 , pp. 675-679
    • Wiznitzer, M.1
  • 17
    • 14644395605 scopus 로고    scopus 로고
    • Neuroanatomic observations of the brain in autism: A review and future directions
    • Bauman ML, Kemper TL,. Neuroanatomic observations of the brain in autism: a review and future directions. Int J Dev Neurosci. 2005; 23: 183-187.
    • (2005) Int J Dev Neurosci , vol.23 , pp. 183-187
    • Bauman, M.L.1    Kemper, T.L.2
  • 18
    • 35148841101 scopus 로고    scopus 로고
    • The neuropathology of autism
    • Casanova MF,. The neuropathology of autism. Brain Pathol. 2007; 17: 422-433.
    • (2007) Brain Pathol , vol.17 , pp. 422-433
    • Casanova, M.F.1
  • 19
    • 84864666011 scopus 로고    scopus 로고
    • Consensus paper: Pathological role of the cerebellum in autism
    • Fatemi SH, Aldinger KA, Ashwood P, et al. Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 2012; 11: 777-807.
    • (2012) Cerebellum , vol.11 , pp. 777-807
    • Fatemi, S.H.1    Aldinger, K.A.2    Ashwood, P.3
  • 20
    • 53849140787 scopus 로고    scopus 로고
    • Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: A stereological experiment using calbindin-D28 k
    • Whitney ER, Kemper TL, Bauman ML, et al. Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28 k. Cerebellum. 2008; 7: 406-416.
    • (2008) Cerebellum , vol.7 , pp. 406-416
    • Whitney, E.R.1    Kemper, T.L.2    Bauman, M.L.3
  • 21
    • 0023906645 scopus 로고
    • Hypoplasia of cerebellar vermal lobules VI and VII in autism
    • Courchesne E, Yeung-Courchesne R, Press GA, et al. Hypoplasia of cerebellar vermal lobules VI and VII in autism. N Engl J Med. 1988; 318: 1349-1354.
    • (1988) N Engl J Med , vol.318 , pp. 1349-1354
    • Courchesne, E.1    Yeung-Courchesne, R.2    Press, G.A.3
  • 23
    • 1542283789 scopus 로고    scopus 로고
    • Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism
    • Kates WR, Burnette CP, Eliez S, et al. Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism. Am J Psychiatry. 2004; 161: 539-546.
    • (2004) Am J Psychiatry , vol.161 , pp. 539-546
    • Kates, W.R.1    Burnette, C.P.2    Eliez, S.3
  • 24
    • 2342422262 scopus 로고    scopus 로고
    • Outcome classification of preschool children with autism spectrum disorders using MRI brain measures
    • Akshoomoff N, Lord C, Lincoln AJ, et al. Outcome classification of preschool children with autism spectrum disorders using MRI brain measures. J Am Acad Child Adolesc Psychiatry. 2004; 43: 349-357.
    • (2004) J Am Acad Child Adolesc Psychiatry , vol.43 , pp. 349-357
    • Akshoomoff, N.1    Lord, C.2    Lincoln, A.J.3
  • 25
    • 0037317443 scopus 로고    scopus 로고
    • Differential effects of developmental cerebellar abnormality on cognitive and motor functions in the cerebellum: An fMRI study of autism
    • Allen G, Courchesne E,. Differential effects of developmental cerebellar abnormality on cognitive and motor functions in the cerebellum: an fMRI study of autism. Am J Psychiatry. 2003; 160: 262-273.
    • (2003) Am J Psychiatry , vol.160 , pp. 262-273
    • Allen, G.1    Courchesne, E.2
  • 26
    • 34548383985 scopus 로고    scopus 로고
    • Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors?
    • Limperopoulos C, Bassan H, Gauvreau K, et al. Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors? Pediatrics. 2007; 120: 584-593.
    • (2007) Pediatrics , vol.120 , pp. 584-593
    • Limperopoulos, C.1    Bassan, H.2    Gauvreau, K.3
  • 27
    • 77955172183 scopus 로고    scopus 로고
    • Cerebellar injury in the premature infant is associated with impaired growth of specific cerebral regions
    • Limperopoulos C, Chilingaryan G, Guizard N, et al. Cerebellar injury in the premature infant is associated with impaired growth of specific cerebral regions. Pediatric Res. 2010; 68: 145-150.
    • (2010) Pediatric Res , vol.68 , pp. 145-150
    • Limperopoulos, C.1    Chilingaryan, G.2    Guizard, N.3
  • 28
    • 0034475191 scopus 로고    scopus 로고
    • Autism and the cerebellum: Evidence from tuberous sclerosis
    • Weber AM, Egelhoff JC, McKellop JM, et al. Autism and the cerebellum: evidence from tuberous sclerosis. J Autism Dev Disord. 2000; 30: 511-517.
    • (2000) J Autism Dev Disord , vol.30 , pp. 511-517
    • Weber, A.M.1    Egelhoff, J.C.2    McKellop, J.M.3
  • 29
    • 0342546508 scopus 로고    scopus 로고
    • Tuberous sclerosis: Differences between cerebral and cerebellar cortical tubers in a pediatric population
    • Marti-Bonmati L, Menor F, Dosda R,. Tuberous sclerosis: differences between cerebral and cerebellar cortical tubers in a pediatric population. AJNR Am J Neuroradiol. 2000; 21: 557-560.
    • (2000) AJNR Am J Neuroradiol , vol.21 , pp. 557-560
    • Marti-Bonmati, L.1    Menor, F.2    Dosda, R.3
  • 30
    • 77957348048 scopus 로고    scopus 로고
    • Cerebellar abnormality in children and young adults with tuberous sclerosis complex: MR and diffusion weighted imaging findings
    • Ertan G, Arulrajah S, Tekes A, et al. Cerebellar abnormality in children and young adults with tuberous sclerosis complex: MR and diffusion weighted imaging findings. J Neuroradiol. 2010; 37: 231-238.
    • (2010) J Neuroradiol , vol.37 , pp. 231-238
    • Ertan, G.1    Arulrajah, S.2    Tekes, A.3
  • 31
    • 0027074821 scopus 로고
    • Neuroimaging in tuberous sclerosis: A clinicoradiological evaluation in pediatric patients
    • Menor F, Marti-Bonmati L, Mulas F, et al. Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients. Pediatr Radiol. 1992; 22: 485-489.
    • (1992) Pediatr Radiol , vol.22 , pp. 485-489
    • Menor, F.1    Marti-Bonmati, L.2    Mulas, F.3
  • 32
    • 84876531421 scopus 로고    scopus 로고
    • MRI characterization and longitudinal study of focal cerebellar lesions in a young tuberous sclerosis cohort
    • Vaughn J, Hagiwara M, Katz J, et al. MRI characterization and longitudinal study of focal cerebellar lesions in a young tuberous sclerosis cohort. AJNR Am J Neuroradiol. 2013; 34: 655-659.
    • (2013) AJNR Am J Neuroradiol , vol.34 , pp. 655-659
    • Vaughn, J.1    Hagiwara, M.2    Katz, J.3
  • 33
    • 33846260814 scopus 로고    scopus 로고
    • Cerebellar lesions in tuberous sclerosis complex: Neurobehavioral and neuroimaging correlates
    • Eluvathingal TJ, Behen ME, Chugani HT, et al. Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates. J Child Neurol. 2006; 21: 846-851.
    • (2006) J Child Neurol , vol.21 , pp. 846-851
    • Eluvathingal, T.J.1    Behen, M.E.2    Chugani, H.T.3
  • 34
    • 0035833936 scopus 로고    scopus 로고
    • Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction
    • Asano E, Chugani DC, Muzik O, et al. Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction. Neurology. 2001; 57: 1269-1277.
    • (2001) Neurology , vol.57 , pp. 1269-1277
    • Asano, E.1    Chugani, D.C.2    Muzik, O.3
  • 35
    • 0030824236 scopus 로고    scopus 로고
    • Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys
    • Chugani DC, Muzik O, Rothermel R, et al. Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys. Ann Neurol. 1997; 42: 666-669.
    • (1997) Ann Neurol , vol.42 , pp. 666-669
    • Chugani, D.C.1    Muzik, O.2    Rothermel, R.3
  • 36
    • 38449099446 scopus 로고    scopus 로고
    • Morphology, molecular codes, and circuitry produce the three-dimensional complexity of the cerebellum
    • Sillitoe RV, Joyner AL,. Morphology, molecular codes, and circuitry produce the three-dimensional complexity of the cerebellum. Annu Rev Cell Dev Biol. 2007; 23: 549-577.
    • (2007) Annu Rev Cell Dev Biol , vol.23 , pp. 549-577
    • Sillitoe, R.V.1    Joyner, A.L.2
  • 37
    • 0028956797 scopus 로고
    • Mechanisms of neural patterning and specification in the developing cerebellum
    • Hatten ME, Heintz N,. Mechanisms of neural patterning and specification in the developing cerebellum. Annu Rev Neurosci. 1995; 18: 385-408.
    • (1995) Annu Rev Neurosci , vol.18 , pp. 385-408
    • Hatten, M.E.1    Heintz, N.2
  • 38
    • 0032965534 scopus 로고    scopus 로고
    • Central nervous system neuronal migration
    • Hatten ME,. Central nervous system neuronal migration. Annu Rev Neurosci. 1999; 22: 511-539.
    • (1999) Annu Rev Neurosci , vol.22 , pp. 511-539
    • Hatten, M.E.1
  • 39
    • 0021929466 scopus 로고
    • Embryonic development of the rat cerebellum. II. Translocation and regional distribution of the deep neurons
    • Altman J, Bayer SA,. Embryonic development of the rat cerebellum. II. Translocation and regional distribution of the deep neurons. J Comp Neurol. 1985; 231: 27-41.
    • (1985) J Comp Neurol , vol.231 , pp. 27-41
    • Altman, J.1    Bayer, S.A.2
  • 40
    • 84902172616 scopus 로고    scopus 로고
    • Cerebellar zonal patterning relies on Purkinje cell neurotransmission
    • White JJ, Arancillo M, Stay TL, et al. Cerebellar zonal patterning relies on Purkinje cell neurotransmission. J Neurosci. 2014; 34: 8231-8245.
    • (2014) J Neurosci , vol.34 , pp. 8231-8245
    • White, J.J.1    Arancillo, M.2    Stay, T.L.3
  • 41
    • 0032908043 scopus 로고    scopus 로고
    • FGF8 induces formation of an ectopic isthmic organizer and isthmocerebellar development via a repressive effect on Otx2 expression
    • Martinez S, Crossley PH, Cobos I, et al. FGF8 induces formation of an ectopic isthmic organizer and isthmocerebellar development via a repressive effect on Otx2 expression. Development. 1999; 126: 1189-1200.
    • (1999) Development , vol.126 , pp. 1189-1200
    • Martinez, S.1    Crossley, P.H.2    Cobos, I.3
  • 42
    • 84891517916 scopus 로고    scopus 로고
    • Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
    • Yu T, Meiners LC, Danielsen K, et al. Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. Elife. 2013; 2: e01305.
    • (2013) Elife , vol.2 , pp. e01305
    • Yu, T.1    Meiners, L.C.2    Danielsen, K.3
  • 43
    • 0029960330 scopus 로고    scopus 로고
    • Midbrain development induced by FGF8 in the chick embryo
    • Crossley PH, Martinez S, Martin GR,. Midbrain development induced by FGF8 in the chick embryo. Nature. 1996; 380: 66-68.
    • (1996) Nature , vol.380 , pp. 66-68
    • Crossley, P.H.1    Martinez, S.2    Martin, G.R.3
  • 44
    • 0030069671 scopus 로고    scopus 로고
    • Engrailed, Wnt and Pax genes regulate midbrain - Hindbrain development
    • Joyner AL,. Engrailed, Wnt and Pax genes regulate midbrain-hindbrain development. Trends Genet. 1996; 12: 15-20.
    • (1996) Trends Genet , vol.12 , pp. 15-20
    • Joyner, A.L.1
  • 45
    • 0025074908 scopus 로고
    • Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development
    • Thomas KR, Capecchi MR,. Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature. 1990; 346: 847-850.
    • (1990) Nature , vol.346 , pp. 847-850
    • Thomas, K.R.1    Capecchi, M.R.2
  • 46
    • 84947077118 scopus 로고
    • The Wnt family of cell signalling molecules in postimplantation development of the mouse
    • discussion 165212-165218
    • McMahon AP, Gavin BJ, Parr B, et al. The Wnt family of cell signalling molecules in postimplantation development of the mouse. Ciba Found Symp. 1992; 165199-165212; discussion 165212-165218.
    • (1992) Ciba Found Symp , pp. 165199-165212
    • McMahon, A.P.1    Gavin, B.J.2    Parr, B.3
  • 47
    • 0026478962 scopus 로고
    • Relationship between Wnt-1 and En-2 expression domains during early development of normal and ectopic met-mesencephalon
    • Bally-Cuif L, Alvarado-Mallart RM, Darnell DK, et al. Relationship between Wnt-1 and En-2 expression domains during early development of normal and ectopic met-mesencephalon. Development. 1992; 115: 999-1009.
    • (1992) Development , vol.115 , pp. 999-1009
    • Bally-Cuif, L.1    Alvarado-Mallart, R.M.2    Darnell, D.K.3
  • 48
    • 0029585838 scopus 로고
    • A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum
    • Millen KJ, Hui CC, Joyner AL,. A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum. Development. 1995; 121: 3935-3945.
    • (1995) Development , vol.121 , pp. 3935-3945
    • Millen, K.J.1    Hui, C.C.2    Joyner, A.L.3
  • 49
    • 0034214298 scopus 로고    scopus 로고
    • Positioning the isthmic organizer where Otx2 and Gbx2meet
    • Simeone A,. Positioning the isthmic organizer where Otx2 and Gbx2meet. Trends Genet. 2000; 16: 237-240.
    • (2000) Trends Genet , vol.16 , pp. 237-240
    • Simeone, A.1
  • 50
    • 80455177222 scopus 로고    scopus 로고
    • Spatially restricted and developmentally dynamic expression of engrailed genes in multiple cerebellar cell types
    • Wilson SL, Kalinovsky A, Orvis GD, et al. Spatially restricted and developmentally dynamic expression of engrailed genes in multiple cerebellar cell types. Cerebellum. 2011; 10: 356-372.
    • (2011) Cerebellum , vol.10 , pp. 356-372
    • Wilson, S.L.1    Kalinovsky, A.2    Orvis, G.D.3
  • 51
    • 77955375508 scopus 로고    scopus 로고
    • Engrailed homeobox genes regulate establishment of the cerebellar afferent circuit map
    • Sillitoe RV, Vogel MW, Joyner AL,. Engrailed homeobox genes regulate establishment of the cerebellar afferent circuit map. J Neurosci. 2010; 30: 10015-10024.
    • (2010) J Neurosci , vol.30 , pp. 10015-10024
    • Sillitoe, R.V.1    Vogel, M.W.2    Joyner, A.L.3
  • 52
    • 0036139973 scopus 로고    scopus 로고
    • Zic2 controls cerebellar development in cooperation with Zic1
    • Aruga J, Inoue T, Hoshino J, et al. Zic2 controls cerebellar development in cooperation with Zic1. J Neurosci. 2002; 22: 218-225.
    • (2002) J Neurosci , vol.22 , pp. 218-225
    • Aruga, J.1    Inoue, T.2    Hoshino, J.3
  • 53
    • 74749106847 scopus 로고    scopus 로고
    • Purkinje cells originate from cerebellar ventricular zone progenitors positive for Neph3 and E-cadherin
    • Mizuhara E, Minaki Y, Nakatani T, et al. Purkinje cells originate from cerebellar ventricular zone progenitors positive for Neph3 and E-cadherin. Dev Biol. 2010; 338: 202-214.
    • (2010) Dev Biol , vol.338 , pp. 202-214
    • Mizuhara, E.1    Minaki, Y.2    Nakatani, T.3
  • 54
    • 22544464692 scopus 로고    scopus 로고
    • Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum
    • Hoshino M, Nakamura S, Mori K, et al. Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum. Neuron. 2005; 47: 201-213.
    • (2005) Neuron , vol.47 , pp. 201-213
    • Hoshino, M.1    Nakamura, S.2    Mori, K.3
  • 55
    • 77957274777 scopus 로고    scopus 로고
    • Ontogeny-recapitulating generation and tissue integration of ES cell-derived Purkinje cells
    • Muguruma K, Nishiyama A, Ono Y, et al. Ontogeny-recapitulating generation and tissue integration of ES cell-derived Purkinje cells. Nat Neurosci. 2010; 13: 1171-1180.
    • (2010) Nat Neurosci , vol.13 , pp. 1171-1180
    • Muguruma, K.1    Nishiyama, A.2    Ono, Y.3
  • 56
    • 84895427504 scopus 로고    scopus 로고
    • The c-Ski family member and transcriptional regulator Corl2/Skor2 promotes early differentiation of cerebellar Purkinje cells
    • Nakatani T, Minaki Y, Kumai M, et al. The c-Ski family member and transcriptional regulator Corl2/Skor2 promotes early differentiation of cerebellar Purkinje cells. Dev Biol. 2014; 388: 68-80.
    • (2014) Dev Biol , vol.388 , pp. 68-80
    • Nakatani, T.1    Minaki, Y.2    Kumai, M.3
  • 57
    • 46749150920 scopus 로고    scopus 로고
    • Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker
    • Minaki Y, Nakatani T, Mizuhara E, et al. Identification of a novel transcriptional corepressor, Corl2, as a cerebellar Purkinje cell-selective marker. Gene Expr Patterns. 2008; 8: 418-423.
    • (2008) Gene Expr Patterns , vol.8 , pp. 418-423
    • Minaki, Y.1    Nakatani, T.2    Mizuhara, E.3
  • 58
    • 67650666186 scopus 로고    scopus 로고
    • Embryonic origins of ZebrinII parasagittal stripes and establishment of topographic Purkinje cell projections
    • Sillitoe RV, Gopal N, Joyner AL,. Embryonic origins of ZebrinII parasagittal stripes and establishment of topographic Purkinje cell projections. Neuroscience. 2009; 162: 574-588.
    • (2009) Neuroscience , vol.162 , pp. 574-588
    • Sillitoe, R.V.1    Gopal, N.2    Joyner, A.L.3
  • 59
    • 38049177366 scopus 로고    scopus 로고
    • Calbindin-D28 k is a more reliable marker of human Purkinje cells than standard Nissl stains: A stereological experiment
    • Whitney ER, Kemper TL, Rosene DL, et al. Calbindin-D28 k is a more reliable marker of human Purkinje cells than standard Nissl stains: a stereological experiment. J Neurosci Methods. 2008; 168: 42-47.
    • (2008) J Neurosci Methods , vol.168 , pp. 42-47
    • Whitney, E.R.1    Kemper, T.L.2    Rosene, D.L.3
  • 60
    • 84898772564 scopus 로고    scopus 로고
    • Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
    • Lionel AC, Tammimies K, Vaags AK, et al. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014; 23: 2752-2768.
    • (2014) Hum Mol Genet , vol.23 , pp. 2752-2768
    • Lionel, A.C.1    Tammimies, K.2    Vaags, A.K.3
  • 61
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009; 459: 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3
  • 62
    • 3142759555 scopus 로고    scopus 로고
    • Review on structural neuroimaging findings in autism
    • Palmen SJ, van Engeland H,. Review on structural neuroimaging findings in autism. J Neural Transm. 2004; 111: 903-929.
    • (2004) J Neural Transm , vol.111 , pp. 903-929
    • Palmen, S.J.1    Van Engeland, H.2
  • 63
    • 33745964945 scopus 로고    scopus 로고
    • The developmental neurobiology of autism spectrum disorder
    • DiCicco-Bloom E, Lord C, Zwaigenbaum L, et al. The developmental neurobiology of autism spectrum disorder. J Neurosci. 2006; 26: 6897-6906.
    • (2006) J Neurosci , vol.26 , pp. 6897-6906
    • DiCicco-Bloom, E.1    Lord, C.2    Zwaigenbaum, L.3
  • 64
    • 62149117941 scopus 로고    scopus 로고
    • Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder
    • Webb SJ, Sparks BF, Friedman SD, et al. Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. Psychiatry Res. 2009; 172: 61-67.
    • (2009) Psychiatry Res , vol.172 , pp. 61-67
    • Webb, S.J.1    Sparks, B.F.2    Friedman, S.D.3
  • 65
    • 0034889143 scopus 로고    scopus 로고
    • Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association
    • Becker R, Stiemer B, Neumann L, et al. Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association. Fetal Diagn Ther. 2001; 16: 280-283.
    • (2001) Fetal Diagn Ther , vol.16 , pp. 280-283
    • Becker, R.1    Stiemer, B.2    Neumann, L.3
  • 67
    • 84871680197 scopus 로고    scopus 로고
    • Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
    • Aldinger KA, Kogan J, Kimonis V, et al. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013; 161A: 131-136.
    • (2013) Am J Med Genet A , vol.161 , pp. 131-136
    • Aldinger, K.A.1    Kogan, J.2    Kimonis, V.3
  • 68
    • 0031897162 scopus 로고    scopus 로고
    • A clinicopathological study of autism
    • Bailey A, Luthert P, Dean A, et al. A clinicopathological study of autism. Brain. 1998; 121 (pt 5): 889-905.
    • (1998) Brain , vol.121 , pp. 889-905
    • Bailey, A.1    Luthert, P.2    Dean, A.3
  • 69
    • 11144230769 scopus 로고    scopus 로고
    • Neuroglial activation and neuroinflammation in the brain of patients with autism
    • Vargas DL, Nascimbene C, Krishnan C, et al. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol. 2005; 57: 67-81.
    • (2005) Ann Neurol , vol.57 , pp. 67-81
    • Vargas, D.L.1    Nascimbene, C.2    Krishnan, C.3
  • 70
    • 70349488819 scopus 로고    scopus 로고
    • Diffusion tensor imaging findings in school-aged autistic children
    • Brito AR, Vasconcelos MM, Domingues RC, et al. Diffusion tensor imaging findings in school-aged autistic children. J Neuroimaging. 2009; 19: 337-343.
    • (2009) J Neuroimaging , vol.19 , pp. 337-343
    • Brito, A.R.1    Vasconcelos, M.M.2    Domingues, R.C.3
  • 71
    • 77958006847 scopus 로고    scopus 로고
    • A diffusion tensor imaging study of the cerebellar pathways in children with autism spectrum disorder
    • Sivaswamy L, Kumar A, Rajan D, et al. A diffusion tensor imaging study of the cerebellar pathways in children with autism spectrum disorder. J Child Neurol. 2010; 25: 1223-1231.
    • (2010) J Child Neurol , vol.25 , pp. 1223-1231
    • Sivaswamy, L.1    Kumar, A.2    Rajan, D.3
  • 72
    • 84880334351 scopus 로고    scopus 로고
    • Comparison of white matter integrity between autism spectrum disorder subjects and typically developing individuals: A meta-analysis of diffusion tensor imaging tractography studies
    • Aoki Y, Abe O, Nippashi Y, et al. Comparison of white matter integrity between autism spectrum disorder subjects and typically developing individuals: a meta-analysis of diffusion tensor imaging tractography studies. Mol Autism. 2013; 4: 25.
    • (2013) Mol Autism , vol.4 , pp. 25
    • Aoki, Y.1    Abe, O.2    Nippashi, Y.3
  • 73
    • 84989182925 scopus 로고    scopus 로고
    • Saccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem
    • Schmitt LM, Cook EH, Sweeney JA, et al. Saccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem. Mol Autism. 2014; 5: 47.
    • (2014) Mol Autism , vol.5 , pp. 47
    • Schmitt, L.M.1    Cook, E.H.2    Sweeney, J.A.3
  • 74
    • 34548443735 scopus 로고    scopus 로고
    • The neuropsychiatry of the cerebellum - Insights from the clinic
    • Schmahmann JD, Weilburg JB, Sherman JC,. The neuropsychiatry of the cerebellum-insights from the clinic. Cerebellum. 2007; 6: 254-267.
    • (2007) Cerebellum , vol.6 , pp. 254-267
    • Schmahmann, J.D.1    Weilburg, J.B.2    Sherman, J.C.3
  • 75
    • 77952878107 scopus 로고    scopus 로고
    • Evidence for topographic organization in the cerebellum of motor control versus cognitive and affective processing
    • Stoodley CJ, Schmahmann JD,. Evidence for topographic organization in the cerebellum of motor control versus cognitive and affective processing. Cortex. 2010; 46: 831-844.
    • (2010) Cortex , vol.46 , pp. 831-844
    • Stoodley, C.J.1    Schmahmann, J.D.2
  • 76
    • 84896494346 scopus 로고    scopus 로고
    • Consensus paper: The cerebellum's role in movement and cognition
    • Koziol LF, Budding D, Andreasen N, et al. Consensus paper: the cerebellum's role in movement and cognition. Cerebellum. 2014; 13: 151-177.
    • (2014) Cerebellum , vol.13 , pp. 151-177
    • Koziol, L.F.1    Budding, D.2    Andreasen, N.3
  • 77
    • 84904625694 scopus 로고    scopus 로고
    • Consensus paper: Language and the cerebellum: An ongoing enigma
    • Marien P, Ackermann H, Adamaszek M, et al. Consensus paper: language and the cerebellum: an ongoing enigma. Cerebellum. 2014; 13: 386-410.
    • (2014) Cerebellum , vol.13 , pp. 386-410
    • Marien, P.1    Ackermann, H.2    Adamaszek, M.3
  • 78
    • 84904619843 scopus 로고    scopus 로고
    • The cerebellum and visual perceptual learning: Evidence from a motion extrapolation task
    • Deluca C, Golzar A, Santandrea E, et al. The cerebellum and visual perceptual learning: evidence from a motion extrapolation task. Cortex. 2014; 58: 52-71.
    • (2014) Cortex , vol.58 , pp. 52-71
    • Deluca, C.1    Golzar, A.2    Santandrea, E.3
  • 79
    • 33748981282 scopus 로고    scopus 로고
    • Fmr1 KO mice as a possible model of autistic features
    • Bernardet M, Crusio WE,. Fmr1 KO mice as a possible model of autistic features. ScientificWorldJournal. 2006; 6: 1164-1176.
    • (2006) ScientificWorldJournal , vol.6 , pp. 1164-1176
    • Bernardet, M.1    Crusio, W.E.2
  • 80
    • 80053654735 scopus 로고    scopus 로고
    • Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry
    • Hays SA, Huber KM, Gibson JR,. Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry. J Neurosci. 2011; 31: 14223-14234.
    • (2011) J Neurosci , vol.31 , pp. 14223-14234
    • Hays, S.A.1    Huber, K.M.2    Gibson, J.R.3
  • 81
    • 77956619092 scopus 로고    scopus 로고
    • Developmental characteristics of dendritic spines in the dentate gyrus of Fmr1 knockout mice
    • Grossman AW, Aldridge GM, Lee KJ, et al. Developmental characteristics of dendritic spines in the dentate gyrus of Fmr1 knockout mice. Brain Res. 2010; 1355: 221-227.
    • (2010) Brain Res , vol.1355 , pp. 221-227
    • Grossman, A.W.1    Aldridge, G.M.2    Lee, K.J.3
  • 82
    • 0035664111 scopus 로고    scopus 로고
    • Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion
    • Shahbazian MD, Orr HT, Zoghbi HY,. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001; 8: 974-981.
    • (2001) Neurobiol Dis , vol.8 , pp. 974-981
    • Shahbazian, M.D.1    Orr, H.T.2    Zoghbi, H.Y.3
  • 83
    • 84865508373 scopus 로고    scopus 로고
    • Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
    • Tsai PT, Hull C, Chu Y, et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012; 488: 647-651.
    • (2012) Nature , vol.488 , pp. 647-651
    • Tsai, P.T.1    Hull, C.2    Chu, Y.3
  • 84
    • 79955979597 scopus 로고    scopus 로고
    • Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration
    • Reith RM, Way S, McKenna J III, et al. Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration. Neurobiol Dis. 2011; 43: 113-122.
    • (2011) Neurobiol Dis , vol.43 , pp. 113-122
    • Reith, R.M.1    Way, S.2    McKenna, J.3
  • 85
    • 84872679699 scopus 로고    scopus 로고
    • Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex
    • Reith RM, McKenna J, Wu H, et al. Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. Neurobiol Dis. 2013; 51: 93-103.
    • (2013) Neurobiol Dis , vol.51 , pp. 93-103
    • Reith, R.M.1    McKenna, J.2    Wu, H.3
  • 86
    • 84867229875 scopus 로고    scopus 로고
    • Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism
    • Baudouin SJ, Gaudias J, Gerharz S, et al. Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism. Science. 2012; 338: 128-132.
    • (2012) Science , vol.338 , pp. 128-132
    • Baudouin, S.J.1    Gaudias, J.2    Gerharz, S.3
  • 87
    • 84866500624 scopus 로고    scopus 로고
    • Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission
    • Han S, Tai C, Westenbroek RE, et al. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature. 2012; 489: 385-390.
    • (2012) Nature , vol.489 , pp. 385-390
    • Han, S.1    Tai, C.2    Westenbroek, R.E.3
  • 88
    • 0030307570 scopus 로고    scopus 로고
    • Gender effect on Purkinje cell loss in the cerebellum of the heterozygous reeler mouse
    • Hadj-Sahraoui N, Frederic F, Delhaye-Bouchaud N, et al. Gender effect on Purkinje cell loss in the cerebellum of the heterozygous reeler mouse. J Neurogenet. 1996; 11: 45-58.
    • (1996) J Neurogenet , vol.11 , pp. 45-58
    • Hadj-Sahraoui, N.1    Frederic, F.2    Delhaye-Bouchaud, N.3
  • 89
    • 60849109211 scopus 로고    scopus 로고
    • Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice
    • Zhou J, Blundell J, Ogawa S, et al. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. J Neurosci. 2009; 29: 1773-1783.
    • (2009) J Neurosci , vol.29 , pp. 1773-1783
    • Zhou, J.1    Blundell, J.2    Ogawa, S.3
  • 90
    • 84933678850 scopus 로고    scopus 로고
    • Studying autism in rodent models: Reconciling endophenotypes with comorbidities
    • Argyropoulos A, Gilby KL, Hill-Yardin EL,. Studying autism in rodent models: reconciling endophenotypes with comorbidities. Front Hum Neurosci. 2013; 7: 417.
    • (2013) Front Hum Neurosci , vol.7 , pp. 417
    • Argyropoulos, A.1    Gilby, K.L.2    Hill-Yardin, E.L.3
  • 91
    • 3142523276 scopus 로고    scopus 로고
    • Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder
    • Gharani N, Benayed R, Mancuso V, et al. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Mol Psychiatry. 2004; 9: 474-484.
    • (2004) Mol Psychiatry , vol.9 , pp. 474-484
    • Gharani, N.1    Benayed, R.2    Mancuso, V.3
  • 93
    • 84878532557 scopus 로고    scopus 로고
    • Signal integration by mTORC1 coordinates nutrient input with biosynthetic output
    • Dibble CC, Manning BD,. Signal integration by mTORC1 coordinates nutrient input with biosynthetic output. Nat Cell Biol. 2013; 15: 555-564.
    • (2013) Nat Cell Biol , vol.15 , pp. 555-564
    • Dibble, C.C.1    Manning, B.D.2
  • 94
    • 80555143078 scopus 로고    scopus 로고
    • MTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase
    • Zoncu R, Bar-Peled L, Efeyan A, et al. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase. Science. 2011; 334: 678-683.
    • (2011) Science , vol.334 , pp. 678-683
    • Zoncu, R.1    Bar-Peled, L.2    Efeyan, A.3
  • 95
    • 84859778293 scopus 로고    scopus 로고
    • MTOR signaling in growth control and disease
    • Laplante M, Sabatini DM,. mTOR signaling in growth control and disease. Cell. 2012; 149: 274-293.
    • (2012) Cell , vol.149 , pp. 274-293
    • Laplante, M.1    Sabatini, D.M.2
  • 96
    • 0036295611 scopus 로고    scopus 로고
    • Regulation of cap-dependent translation by insulin-like growth factor-1 in neuronal cells
    • Quevedo C, Salinas M, Alcazar A,. Regulation of cap-dependent translation by insulin-like growth factor-1 in neuronal cells. Biochem Biophys Res Commun. 2002; 291: 560-566.
    • (2002) Biochem Biophys Res Commun , vol.291 , pp. 560-566
    • Quevedo, C.1    Salinas, M.2    Alcazar, A.3
  • 97
    • 7744224557 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor induces mammalian target of rapamycin-dependent local activation of translation machinery and protein synthesis in neuronal dendrites
    • Takei N, Inamura N, Kawamura M, et al. Brain-derived neurotrophic factor induces mammalian target of rapamycin-dependent local activation of translation machinery and protein synthesis in neuronal dendrites. J Neurosci. 2004; 24: 9760-9769.
    • (2004) J Neurosci , vol.24 , pp. 9760-9769
    • Takei, N.1    Inamura, N.2    Kawamura, M.3
  • 98
    • 0035900712 scopus 로고    scopus 로고
    • Brain-derived neurotrophic factor enhances neuronal translation by activating multiple initiation processes: Comparison with the effects of insulin
    • Takei N, Kawamura M, Hara K, et al. Brain-derived neurotrophic factor enhances neuronal translation by activating multiple initiation processes: comparison with the effects of insulin. J Biol Chem. 2001; 276: 42818-42825.
    • (2001) J Biol Chem , vol.276 , pp. 42818-42825
    • Takei, N.1    Kawamura, M.2    Hara, K.3
  • 99
    • 84902960412 scopus 로고    scopus 로고
    • Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1
    • Di Nardo A, Wertz MH, Kwiatkowski E, et al. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014; 23: 3865-3874.
    • (2014) Hum Mol Genet , vol.23 , pp. 3865-3874
    • Di Nardo, A.1    Wertz, M.H.2    Kwiatkowski, E.3
  • 100
    • 65949106140 scopus 로고    scopus 로고
    • Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner
    • Di Nardo A, Kramvis I, Cho N, et al. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009; 29: 5926-5937.
    • (2009) J Neurosci , vol.29 , pp. 5926-5937
    • Di Nardo, A.1    Kramvis, I.2    Cho, N.3
  • 101
    • 81055126193 scopus 로고    scopus 로고
    • Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
    • Goto J, Talos DM, Klein P, et al. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci USA. 2011; 108: E1070-1079.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. E1070-1079
    • Goto, J.1    Talos, D.M.2    Klein, P.3
  • 102
    • 51949094890 scopus 로고    scopus 로고
    • Tuberous sclerosis complex proteins control axon formation
    • Choi YJ, Di Nardo A, Kramvis I, et al. Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008; 22: 2485-2495.
    • (2008) Genes Dev , vol.22 , pp. 2485-2495
    • Choi, Y.J.1    Di Nardo, A.2    Kramvis, I.3
  • 103
    • 84885105969 scopus 로고    scopus 로고
    • A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS
    • Zhang J, Kim J, Alexander A, et al. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol. 2013; 15: 1186-1196.
    • (2013) Nat Cell Biol , vol.15 , pp. 1186-1196
    • Zhang, J.1    Kim, J.2    Alexander, A.3
  • 104
    • 84866354915 scopus 로고    scopus 로고
    • Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
    • Yuan E, Tsai PT, Greene-Colozzi E, et al. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012; 21: 4286-4300.
    • (2012) Hum Mol Genet , vol.21 , pp. 4286-4300
    • Yuan, E.1    Tsai, P.T.2    Greene-Colozzi, E.3
  • 105
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997; 277: 805-808.
    • (1997) Science , vol.277 , pp. 805-808
    • Van Slegtenhorst, M.1    De Hoogt, R.2    Hermans, C.3
  • 106
    • 0029124823 scopus 로고
    • Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues
    • Xu L, Sterner C, Maheshwar MM, et al. Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics. 1995; 27: 475-480.
    • (1995) Genomics , vol.27 , pp. 475-480
    • Xu, L.1    Sterner, C.2    Maheshwar, M.M.3
  • 107
    • 4444276510 scopus 로고    scopus 로고
    • Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity
    • Li Y, Inoki K, Guan KL,. Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. Mol Cell Biol. 2004; 24: 7965-7975.
    • (2004) Mol Cell Biol , vol.24 , pp. 7965-7975
    • Li, Y.1    Inoki, K.2    Guan, K.L.3
  • 108
    • 0043127125 scopus 로고    scopus 로고
    • Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
    • Inoki K, Li Y, Xu T, et al. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev. 2003; 17: 1829-1834.
    • (2003) Genes Dev , vol.17 , pp. 1829-1834
    • Inoki, K.1    Li, Y.2    Xu, T.3
  • 109
    • 84945990416 scopus 로고    scopus 로고
    • Targeting the PI3K/AKT/mTOR pathway: Biomarkers of success and tribulation
    • Owonikoko TK, Khuri FR,. Targeting the PI3K/AKT/mTOR pathway: biomarkers of success and tribulation. Am Soc Clin Oncol Educ Book. 2013. doi:10.1200/EdBook-AM.2013.33.e395.
    • (2013) Am Soc Clin Oncol Educ Book
    • Owonikoko, T.K.1    Khuri, F.R.2
  • 110
    • 81055149891 scopus 로고    scopus 로고
    • PF-04691502, a potent and selective oral inhibitor of PI3 K and mTOR kinases with antitumor activity
    • Yuan J, Mehta PP, Yin MJ, et al. PF-04691502, a potent and selective oral inhibitor of PI3 K and mTOR kinases with antitumor activity. Mol Cancer Ther. 2011; 10 (11): 2189-2199.
    • (2011) Mol Cancer Ther , vol.10 , Issue.11 , pp. 2189-2199
    • Yuan, J.1    Mehta, P.P.2    Yin, M.J.3
  • 111
    • 39149086020 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from fibroblast cultures
    • Takahashi K, Okita K, Nakagawa M, et al. Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc. 2007; 2: 3081-3089.
    • (2007) Nat Protoc , vol.2 , pp. 3081-3089
    • Takahashi, K.1    Okita, K.2    Nakagawa, M.3
  • 112
    • 84947085595 scopus 로고    scopus 로고
    • Generation and characterization of patient-specific induced pluripotent stem cell for disease modeling [published online ahead of print December 18, 2014]
    • Sivapatham R, Zeng X,. Generation and characterization of patient-specific induced pluripotent stem cell for disease modeling [published online ahead of print December 18, 2014]. Methods Mol Biol.
    • Methods Mol Biol
    • Sivapatham, R.1    Zeng, X.2
  • 113
    • 84893639695 scopus 로고    scopus 로고
    • IPSC-derived neurons as a higher-throughput readout for autism: Promises and pitfalls
    • Prilutsky D, Palmer NP, Smedemark-Margulies N, et al. iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls. Trends Mol Med. 2014; 20: 91-104.
    • (2014) Trends Mol Med , vol.20 , pp. 91-104
    • Prilutsky, D.1    Palmer, N.P.2    Smedemark-Margulies, N.3
  • 114
    • 84878852415 scopus 로고    scopus 로고
    • Modeling human disease with pluripotent stem cells: From genome association to function
    • Merkle FT, Eggan K,. Modeling human disease with pluripotent stem cells: from genome association to function. Cell Stem Cell. 2013; 12: 656-668.
    • (2013) Cell Stem Cell , vol.12 , pp. 656-668
    • Merkle, F.T.1    Eggan, K.2
  • 115
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
    • 107
    • Chamberlain SJ, Chen PF, Ng KY, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci USA. 2010;107: 17668-17673.
    • (2010) Proc Natl Acad Sci USA , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.