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Neurology
Volumn 70, Issue 12, 2008, Pages 904-905
Tuberous sclerosis complex: A tale of two genes
Author keywords

[No Author keywords available]
Indexed keywords

GUANOSINE TRIPHOSPHATASE; HAMARTIN; TUBERIN;
EID: 41149083022     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000305964.52343.8f     Document Type: Editorial
Times cited : (1)
References (16)
  • 2
    • 28044456974 scopus 로고    scopus 로고
    • Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
    • Tavazoie S, Alvarez V, Ridenour D, Kwiatkowski D, Sabatini B. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 2005;8:1727-1734.
    • (2005) Nat Neurosci , vol.8 , pp. 1727-1734
    • Tavazoie, S.1    Alvarez, V.2    Ridenour, D.3    Kwiatkowski, D.4    Sabatini, B.5
  • 3
    • 1542316166 scopus 로고    scopus 로고
    • Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits
    • Humphrey A, Higgins J, Nicholas P, Yates JRW Bolton PF. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology 2004;62:795-798.
    • (2004) Neurology , vol.62 , pp. 795-798
    • Humphrey, A.1    Higgins, J.2    Nicholas, P.3    Yates, J.R.W.4    Bolton, P.F.5
  • 4
    • 33847057994 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
    • Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007;9:88-100.
    • (2007) Genet Med , vol.9 , pp. 88-100
    • Au, K.S.1    Williams, A.T.2    Roach, E.S.3
  • 5
    • 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
  • 6
  • 7
    • 41149172302 scopus 로고    scopus 로고
    • Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
    • Jansen FE, Braams O, Vincken KL, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 2008;70:908-915.
    • (2008) Neurology , vol.70 , pp. 908-915
    • Jansen, F.E.1    Braams, O.2    Vincken, K.L.3
  • 8
    • 41149159158 scopus 로고    scopus 로고
    • Cognitive impairment in tuberous sclerosis complex is a multifactorial condition
    • Jansen FE, Vincken KL, Algra A, et al. Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. Neurology 2008;70:916-923.
    • (2008) Neurology , vol.70 , pp. 916-923
    • Jansen, F.E.1    Vincken, K.L.2    Algra, A.3
  • 9
    • 22544488406 scopus 로고    scopus 로고
    • Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
    • Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005;65:235-238.
    • (2005) Neurology , vol.65 , pp. 235-238
    • Goh, S.1    Kwiatkowski, D.J.2    Dorer, D.J.3    Thiele, E.A.4
  • 10
    • 12244298162 scopus 로고    scopus 로고
    • Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
    • Joinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003;33:335-344.
    • (2003) Psychol Med , vol.33 , pp. 335-344
    • Joinson, C.1    O'Callaghan, F.J.2    Osborne, J.P.3    Martyn, C.4    Harris, T.5    Bolton, P.F.6
  • 11
    • 2642525301 scopus 로고    scopus 로고
    • The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
    • O'Callaghan F, Harris T, Johnson C, et al. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530-533.
    • (2004) Arch Dis Child , vol.89 , pp. 530-533
    • O'Callaghan, F.1    Harris, T.2    Johnson, C.3
  • 12
    • 33748060502 scopus 로고    scopus 로고
    • Mental retardation and relation to seizure and tuber burden in Tuberous Sclerosis Complex
    • Zaroff CM, Barr WB, Carlson C, et al. Mental retardation and relation to seizure and tuber burden in Tuberous Sclerosis Complex. Seizure 2006;15:558-562.
    • (2006) Seizure , vol.15 , pp. 558-562
    • Zaroff, C.M.1    Barr, W.B.2    Carlson, C.3
  • 13
    • 8844285191 scopus 로고    scopus 로고
    • Managing epilepsy in tuberous sclerosis complex
    • Thiele E. Managing epilepsy in tuberous sclerosis complex. J Child Neurol 2004;19:680-686.
    • (2004) J Child Neurol , vol.19 , pp. 680-686
    • Thiele, E.1
  • 14
    • 33745231169 scopus 로고    scopus 로고
    • Autistic regression associated with seizure onset in an infant with tuberous sclerosis
    • Humphrey A, Neville B, Clarke A, Bolton PF. Autistic regression associated with seizure onset in an infant with tuberous sclerosis. Dev Med Child Neurol 2006;48:609-611.
    • (2006) Dev Med Child Neurol , vol.48 , pp. 609-611
    • Humphrey, A.1    Neville, B.2    Clarke, A.3    Bolton, P.F.4
  • 16
    • 33745124709 scopus 로고    scopus 로고
    • Study of the relationship between tuberous sclerosis complex and autistic disorder
    • Wong V. Study of the relationship between tuberous sclerosis complex and autistic disorder. J Child Neurol 2006;21:199-204.
    • (2006) J Child Neurol , vol.21 , pp. 199-204
    • Wong, V.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.