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Volumn 45, Issue 3, 2005, Pages 221-225

A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)

Author keywords

Autosomal recessive; Charcot Marie Tooth disease; Dernyelination; Gene analysis; Periaxin

Indexed keywords

ARGININE;

EID: 20244379064     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (17)
  • 1
    • 0036157054 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
    • Boerkoel CF, Takashima H. Garcia CA, et al: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51: 190-201
    • (2002) Ann Neurol , vol.51 , pp. 190-201
    • Boerkoel, C.F.1    Takashima, H.2    Garcia, C.A.3
  • 2
    • 17044381567 scopus 로고    scopus 로고
    • Japanese source
  • 3
    • 0033924959 scopus 로고    scopus 로고
    • Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous lebanese family: Exclusion of MAG as a candidate gene
    • Delague V, Bareil C, Tuffery S, et al: Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous lebanese family: Exclusion of MAG as a candidate gene. Am J Hum Genet 2000;67:236-243
    • (2000) Am J Hum Genet , vol.67 , pp. 236-243
    • Delague, V.1    Bareil, C.2    Tuffery, S.3
  • 4
    • 0035864930 scopus 로고    scopus 로고
    • A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
    • Guilbot A, Williams A. Ravisé N. et al: A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 2001; 10: 415-421
    • (2001) Hum Mol Genet , vol.10 , pp. 415-421
    • Guilbot, A.1    Williams, A.2    Ravisé, N.3
  • 5
    • 3843074032 scopus 로고    scopus 로고
    • Periaxin mutation causes early onset but slow progressive Charcot-Marie-Tooth disease
    • Kijima K, Numakura C, Shirahata E, et al: Periaxin mutation causes early onset but slow progressive Charcot-Marie-Tooth disease. J Hum Genet 2004; 49: 376-379
    • (2004) J Hum Genet , vol.49 , pp. 376-379
    • Kijima, K.1    Numakura, C.2    Shirahata, E.3
  • 6
    • 0027491703 scopus 로고
    • Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
    • Ben Othmane K, Hentati F, Lennon F, et al: Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to Chromosome 8q. Hum Mol Genet 1993; 2: 1625-1628
    • (1993) Hum Mol Genet , vol.2 , pp. 1625-1628
    • Ben Othmane, K.1    Hentati, F.2    Lennon, F.3
  • 7
    • 0030015647 scopus 로고    scopus 로고
    • Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
    • Bolino A, Brancolini V, Bono F, et al: Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 1996; 5: 1051-1054
    • (1996) Hum Mol Genet , vol.5 , pp. 1051-1054
    • Bolino, A.1    Brancolini, V.2    Bono, F.3
  • 8
    • 17344376225 scopus 로고    scopus 로고
    • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11q15
    • Ben Othmane K, Johnson E, Menold M, et al: Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11q15. Genomics 1999; 62: 344-349
    • (1999) Genomics , vol.62 , pp. 344-349
    • Ben Othmane, K.1    Johnson, E.2    Menold, M.3
  • 9
    • 0029849358 scopus 로고    scopus 로고
    • Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    • LeGuern E, Guilbot A, Kessali M, et al: Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet 1996; 5: 1685-1688
    • (1996) Hum Mol Genet , vol.5 , pp. 1685-1688
    • LeGuern, E.1    Guilbot, A.2    Kessali, M.3
  • 10
    • 16044365767 scopus 로고    scopus 로고
    • Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
    • Kalaydjieva L, Hallmayer J, Chandler D. et al: Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet 1996; 14: 214-217
    • (1996) Nature Genet , vol.14 , pp. 214-217
    • Kalaydjieva, L.1    Hallmayer, J.2    Chandler, D.3
  • 11
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al: Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet 1998; 18: 382-419
    • (1998) Nature Genet , vol.18 , pp. 382-419
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 12
    • 0034790977 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy-Russe: New autosomal recessive neuropathy in Balkan Gypsies
    • Thomas PK, Kalaydjieva L, Youl B, et al: Hereditary motor and sensory neuropathy-Russe: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 2001; 50: 452-457
    • (2001) Ann Neurol , vol.50 , pp. 452-457
    • Thomas, P.K.1    Kalaydjieva, L.2    Youl, B.3
  • 13
    • 0035121784 scopus 로고    scopus 로고
    • Periaxin mutations cause recessive Dejerine-Sottas neuropathy
    • Boerkoel CF, Takashima H, Stankiewicz P, et al: Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 2001; 68: 325-333
    • (2001) Am J Hum Genet , vol.68 , pp. 325-333
    • Boerkoel, C.F.1    Takashima, H.2    Stankiewicz, P.3
  • 14
    • 0029615322 scopus 로고
    • Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development
    • Scherer SS, Xu Y-t, Bannerman PGC, et al: Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 1995; 121: 4265-4273
    • (1995) Development , vol.121 , pp. 4265-4273
    • Scherer, S.S.1    Xu, Y.-T.2    Bannerman, P.G.C.3
  • 15
    • 0034681351 scopus 로고    scopus 로고
    • A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin
    • Sherman DL, Brophy PJ: A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. J Biol Chem 2000; 275: 4537-4540
    • (2000) J Biol Chem , vol.275 , pp. 4537-4540
    • Sherman, D.L.1    Brophy, P.J.2
  • 16
    • 0033681225 scopus 로고    scopus 로고
    • Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice
    • Gillespie CS, Sherman DL, Fleetwood-Walker SM, et al: Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 2000; 26: 523-531
    • (2000) Neuron , vol.26 , pp. 523-531
    • Gillespie, C.S.1    Sherman, D.L.2    Fleetwood-Walker, S.M.3
  • 17
    • 0036267227 scopus 로고    scopus 로고
    • Periaxin mutations cause a broad spectrum of demyelinating neuropathies
    • Takashima H, Boerkoel CF, De Jonghe P, et al: Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 2002; 51: 709-715
    • (2002) Ann Neurol , vol.51 , pp. 709-715
    • Takashima, H.1    Boerkoel, C.F.2    De Jonghe, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.