메뉴 건너뛰기




Volumn 52, Issue 9, 2010, Pages 817-823

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

EID: 77955755675     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03636.x     Document Type: Article
Times cited : (52)

References (23)
  • 1
    • 0037235315 scopus 로고    scopus 로고
    • Describing the phenotype in Rett syndrome using a population database
    • Colvin L, Fyfe S, Leonard S. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003, 88:38-43.
    • (2003) Arch Dis Child , vol.88 , pp. 38-43
    • Colvin, L.1    Fyfe, S.2    Leonard, S.3
  • 2
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet 1999, 23:185-8.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 3
    • 0037002625 scopus 로고    scopus 로고
    • An update on clinically applicable diagnostic criteria in Rett syndrome
    • Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
    • Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Eur J Pediatr Neurol 2002, 6:293-7. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
    • (2002) Eur J Pediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 4
    • 0036835332 scopus 로고    scopus 로고
    • The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome
    • Mount RH, Charman T, Hastings RP, Reilly S, Cass H. The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry 2002, 43:1099-110.
    • (2002) J Child Psychol Psychiatry , vol.43 , pp. 1099-1110
    • Mount, R.H.1    Charman, T.2    Hastings, R.P.3    Reilly, S.4    Cass, H.5
  • 5
    • 42249095974 scopus 로고    scopus 로고
    • Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
    • Neul JL, Fang P, Barrish J. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008, 70:1313-21.
    • (2008) Neurology , vol.70 , pp. 1313-1321
    • Neul, J.L.1    Fang, P.2    Barrish, J.3
  • 6
    • 40549110266 scopus 로고    scopus 로고
    • Investigating genotype-phenotype relationships in Rett syndrome using an international dataset
    • Bebbington A, Anderson A, Ravine D. Investigating genotype-phenotype relationships in Rett syndrome using an international dataset. Neurology 2008, 70:868-75.
    • (2008) Neurology , vol.70 , pp. 868-875
    • Bebbington, A.1    Anderson, A.2    Ravine, D.3
  • 7
    • 0036270792 scopus 로고    scopus 로고
    • Clinical manifestations and stages of Rett syndrome
    • Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002, 8:61-5.
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , pp. 61-65
    • Hagberg, B.1
  • 8
    • 27144514671 scopus 로고    scopus 로고
    • Rett syndrome from a family perspective: The Swedish Rett Center survey
    • Larsson G, Lindström B, Engerström IW. Rett syndrome from a family perspective: The Swedish Rett Center survey. Brain Dev 2005, 27(Suppl 1):S14-9.
    • (2005) Brain Dev , vol.27 , Issue.SUPPL. 1
    • Larsson, G.1    Lindström, B.2    Engerström, I.W.3
  • 9
    • 0037404490 scopus 로고    scopus 로고
    • Findings from a multidisciplinary clinical case series of females with Rett syndrome
    • Cass H, Reilly S, Owen L. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol 2003, 45:325-37.
    • (2003) Dev Med Child Neurol , vol.45 , pp. 325-337
    • Cass, H.1    Reilly, S.2    Owen, L.3
  • 10
    • 34748870106 scopus 로고    scopus 로고
    • Development of a video-based evaluation tool in Rett syndrome
    • Fyfe S, Downs J, McIlroy O. Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord 2007, 37:1636-46.
    • (2007) J Autism Dev Disord , vol.37 , pp. 1636-1646
    • Fyfe, S.1    Downs, J.2    McIlroy, O.3
  • 11
    • 0031937997 scopus 로고    scopus 로고
    • Is the girl with Rett syndrome normal at birth?
    • Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol 1998, 40:115-21.
    • (1998) Dev Med Child Neurol , vol.40 , pp. 115-121
    • Leonard, H.1    Bower, C.2
  • 12
    • 0028338521 scopus 로고
    • The Functional Independence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities
    • Msall ME, DiGaudio K, Rogers BT. The Functional Independence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities. Clin Pediatr (Phila) 1994, 33:421-30.
    • (1994) Clin Pediatr (Phila) , vol.33 , pp. 421-430
    • Msall, M.E.1    DiGaudio, K.2    Rogers, B.T.3
  • 14
    • 0025502169 scopus 로고
    • Descriptive analysis of the developmental progression of grip position for pencil and crayon control in nondysfunctional children
    • Schneck CM, Henderson A. Descriptive analysis of the developmental progression of grip position for pencil and crayon control in nondysfunctional children. Am J Occup Ther 1990, 44:893-900.
    • (1990) Am J Occup Ther , vol.44 , pp. 893-900
    • Schneck, C.M.1    Henderson, A.2
  • 15
    • 33749127889 scopus 로고    scopus 로고
    • Predictors of seizure onset in Rett syndrome
    • Jian L, Nagarajan L, de Klerk N. Predictors of seizure onset in Rett syndrome. J Pediatr 2006, 149:542-7.
    • (2006) J Pediatr , vol.149 , pp. 542-547
    • Jian, L.1    Nagarajan, L.2    de Klerk, N.3
  • 16
    • 0035015196 scopus 로고    scopus 로고
    • Guidelines for reporting clinical features in cases with MECP2 mutations
    • Kerr AM, Nomura Y, Armstrong D. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001, 23:208-11.
    • (2001) Brain Dev , vol.23 , pp. 208-211
    • Kerr, A.M.1    Nomura, Y.2    Armstrong, D.3
  • 17
    • 45349089199 scopus 로고    scopus 로고
    • Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome - Mecp2 gene dosage effects and BDNF expression
    • Kondo M, Gray LJ, Pelka GJ, Christodoulou J, Tam Hannan AJ. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome - Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci 2008, 27:3342-50.
    • (2008) Eur J Neurosci , vol.27 , pp. 3342-3350
    • Kondo, M.1    Gray, L.J.2    Pelka, G.J.3    Christodoulou, J.4    Tam, P.P.5    Hannan, A.J.6
  • 18
    • 59849099417 scopus 로고    scopus 로고
    • Gross motor profile in Rett syndrome as determined by video analysis
    • Downs JA, Bebbington A, Jacoby P. Gross motor profile in Rett syndrome as determined by video analysis. Neuropediatrics 2008, 39:205-10.
    • (2008) Neuropediatrics , vol.39 , pp. 205-210
    • Downs, J.A.1    Bebbington, A.2    Jacoby, P.3
  • 19
    • 0024996063 scopus 로고
    • Rett syndrome and associated movement disorders
    • FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Mov Disord 1990, 5:195-202.
    • (1990) Mov Disord , vol.5 , pp. 195-202
    • FitzGerald, P.M.1    Jankovic, J.2    Percy, A.K.3
  • 20
    • 0019421202 scopus 로고
    • A developmental prehension assessment for handicapped children
    • Erhardt RP, Beatty PA, Hertsgaard DM. A developmental prehension assessment for handicapped children. Am J Occup Ther 1981, 35:237-42.
    • (1981) Am J Occup Ther , vol.35 , pp. 237-242
    • Erhardt, R.P.1    Beatty, P.A.2    Hertsgaard, D.M.3
  • 23
    • 33644810460 scopus 로고    scopus 로고
    • P.R270X MECP2 mutation and mortality in Rett syndrome
    • Jian L, Archer HL, Ravine D. p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet 2005, 13:1235-8.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1235-1238
    • Jian, L.1    Archer, H.L.2    Ravine, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.