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Volumn 70, Issue 16, 2008, Pages 1302-1303

Will my Rett syndrome patient walk, talk, and use her hands?

Author keywords

[No Author keywords available]

Indexed keywords

DISABILITY; EDITORIAL; GENE MUTATION; HAND FUNCTION; HUMAN; PRIORITY JOURNAL; RETT SYNDROME; SPEECH; WALKING;

EID: 42249109843     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000309213.74757.74     Document Type: Editorial
Times cited : (3)

References (8)
  • 1
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    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
    • Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983;14:471-479.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 2
    • 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: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 2002;6:293-297.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 3
    • 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, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3
  • 4
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    • Mnatzakanian GN, Lohi H, Munteanu I, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004;36:339-341.
    • (2004) Nat Genet , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1    Lohi, H.2    Munteanu, I.3
  • 5
    • 18144443930 scopus 로고    scopus 로고
    • Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
    • Cheadle JP, Gill H, Fleming N, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000;9:1119-1129.
    • (2000) Hum Mol Genet , vol.9 , pp. 1119-1129
    • Cheadle, J.P.1    Gill, H.2    Fleming, N.3
  • 6
    • 0035196349 scopus 로고    scopus 로고
    • Rett syndrome in Spain: Mutation analysis and clinical correlations
    • Monros E, Armstrong J, Aibar E, et al. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 2001;23 suppl 1:S251-253.
    • (2001) Brain Dev , vol.23 , Issue.SUPPL. 1
    • Monros, E.1    Armstrong, J.2    Aibar, E.3
  • 7
    • 1642482969 scopus 로고    scopus 로고
    • Refining the phenotype of common mutations in Rett syndrome
    • Colvin L, Leonard H, de Klerk N, et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2004;41:25-30.
    • (2004) J Med Genet , vol.41 , pp. 25-30
    • Colvin, L.1    Leonard, H.2    de Klerk, N.3
  • 8
    • 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, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008;70:1313-1321.
    • (2008) Neurology , vol.70 , pp. 1313-1321
    • Neul, J.L.1    Fang, P.2    Barrish, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.