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Neurological Sciences
Volumn 27, Issue 2, 2006, Pages 114-117
A novel missense mutation in the L1CAM gene in a boy with L1 disease
Author keywords

Fn2 domain; Genetic heterogeneity; L1 disease; L1CAM gene; Post natal brain growth
Indexed keywords

ASPARAGINE; ASPARTIC ACID; FIBRONECTIN; NERVE CELL ADHESION MOLECULE L1;
EID: 33745627800     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-006-0610-2     Document Type: Article
Times cited : (7)
References (10)
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  • 2
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    • X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
    • Jouet M, Rosenthal A, Armstrong G et al (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407
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    • Jouet, M.1    Rosenthal, A.2    Armstrong, G.3
  • 3
    • 0028241953 scopus 로고
    • MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
    • Vits L, van Camp G, Coucke P et al (1994) MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet 7:408-413
    • (1994) Nat Genet , vol.7 , pp. 408-413
    • Vits, L.1    van Camp, G.2    Coucke, P.3
  • 4
    • 0031898231 scopus 로고    scopus 로고
    • Genotypephenotype correlation in L1 associated diseases
    • Fransen E, van Camp G, D'Hooge et al (1998) Genotypephenotype correlation in L1 associated diseases. J Med Genet 35:399-404
    • (1998) J Med Genet , vol.35 , pp. 399-404
    • Fransen, E.1    van Camp, G.2    D'Hooge3
  • 5
    • 0343294007 scopus 로고    scopus 로고
    • Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease
    • Finckh U, Schroder J, Ressler B et al (2000) Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet 92:40-46
    • (2000) Am J Med Genet , vol.92 , pp. 40-46
    • Finckh, U.1    Schroder, J.2    Ressler, B.3
  • 6
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    • Neural cell recognition molecule L1: Relating biological complexity to human disease mutations
    • Kenwrick S, Watkins A, De Angelis E (2000) Neural cell recognition molecule L1: Relating biological complexity to human disease mutations. Hum Mol Genet 9:879-886
    • (2000) Hum Mol Genet , vol.9 , pp. 879-886
    • Kenwrick, S.1    Watkins, A.2    De Angelis, E.3
  • 7
    • 0028876309 scopus 로고
    • CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
    • Fransen E, Lemmon V, van Camp G et al (1995) CRASH syndrome: Clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3:273-284
    • (1995) Eur J Hum Genet , vol.3 , pp. 273-284
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  • 8
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    • Genetic and clinical aspects of X-linked hydrocephalus (L1 Disease): Mutations in the L1CAM gene
    • Weller S, Gartner J (2001) Genetic and clinical aspects of X-linked hydrocephalus (L1 Disease): Mutations in the L1CAM gene. Hum Mutat 18:1-12
    • (2001) Hum Mutat , vol.18 , pp. 1-12
    • Weller, S.1    Gartner, J.2
  • 9
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    • Diseaseassociated mutations in L1 CAM interfere with ligand interactions and cell-surface expression
    • De Angelis E, Watkins A, Schafer M et al (2002) Diseaseassociated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. Hum Mol Genet 1:1-12
    • (2002) Hum Mol Genet , vol.1 , pp. 1-12
    • De Angelis, E.1    Watkins, A.2    Schafer, M.3
  • 10
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    • Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
    • Bateman A, Jouet M, MacFarlane et al (1996) Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15:6050-6059
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.