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Volumn 48, Issue 2, 1997, Pages 450-452

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

EID: 0031028126     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.2.450     Document Type: Article
Times cited : (74)

References (12)
  • 1
    • 0028221758 scopus 로고
    • Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Yoshikawa H, Nishimura T, Nakatsuji Y, et al. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 1994;35:445-450.
    • (1994) Ann Neurol , vol.35 , pp. 445-450
    • Yoshikawa, H.1    Nishimura, T.2    Nakatsuji, Y.3
  • 2
    • 0028872907 scopus 로고
    • A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
    • Lorenzetti D, Pareyson D, Sghirlanzoni A, et al. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
    • (1995) Am J Hum Genet , vol.56 , pp. 91-98
    • Lorenzetti, D.1    Pareyson, D.2    Sghirlanzoni, A.3
  • 3
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
    • Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992;1: 171-175.
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3
  • 4
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    De Montes Oca-Luna, R.2    Slaugenhaupt, S.3
  • 5
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP-22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP-22 gene. New Engl J Med 1993;329:96-101.
    • (1993) New Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 6
    • 0028339044 scopus 로고
    • A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
    • published erratum appears in Nat Genet 1994;7:113
    • Nicholson GA, Valentijn LJ, Cherryson AK, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies [published erratum appears in Nat Genet 1994;7:113]. Nat Genet 1994;6:263-266.
    • (1994) Nat Genet , vol.6 , pp. 263-266
    • Nicholson, G.A.1    Valentijn, L.J.2    Cherryson, A.K.3
  • 7
    • 0024342726 scopus 로고
    • Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as a solid support
    • Hultman T, Stahl S, Hornes E, Uhlen M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as a solid support. Nucleic Acids Res 1989;17:4937-4946.
    • (1989) Nucleic Acids Res , vol.17 , pp. 4937-4946
    • Hultman, T.1    Stahl, S.2    Hornes, E.3    Uhlen, M.4
  • 8
    • 0029846132 scopus 로고    scopus 로고
    • Four frequently observed polymorphisms in the 3′-UTR of human peripheral myelin protein 22 (PMP22): Identification of different haplotypes
    • Young P, Wiebusch H, Stoegbauer F, Ringelstein B, Assmann G, Funke H. Four frequently observed polymorphisms in the 3′-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes. Clin Genet 1996;49:321-322.
    • (1996) Clin Genet , vol.49 , pp. 321-322
    • Young, P.1    Wiebusch, H.2    Stoegbauer, F.3    Ringelstein, B.4    Assmann, G.5    Funke, H.6
  • 9
    • 0026879614 scopus 로고
    • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    • Patel PJ, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:159-165.
    • (1992) Nat Genet , vol.1 , pp. 159-165
    • Patel, P.J.1    Roa, B.B.2    Welcher, A.A.3
  • 10
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-273.
    • (1993) Nat Genet , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 11
    • 0028784820 scopus 로고
    • Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice
    • Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U. Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet 1995;11:274-280.
    • (1995) Nat Genet , vol.11 , pp. 274-280
    • Adlkofer, K.1    Martini, R.2    Aguzzi, A.3    Zielasek, J.4    Toyka, K.V.5    Suter, U.6
  • 12
    • 0031035514 scopus 로고    scopus 로고
    • Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
    • Schenone A, Nobbio L, Mandich P, et al. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 1997; 48:445-449.
    • (1997) Neurology , vol.48 , pp. 445-449
    • Schenone, A.1    Nobbio, L.2    Mandich, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.