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Neurology
Volumn 67, Issue 8, 2006, Pages 1476-1478
Charcot-Marie-tooth disease due to a de novo mutation of the RAB7 gene
Author keywords

[No Author keywords available]
Indexed keywords

ASPARAGINE; GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; LYSINE; RAB7 PROTEIN;
EID: 33750312943     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240068.21499.f5     Document Type: Article
Times cited : (86)
References (6)
  • 1
    • 0037371509 scopus 로고    scopus 로고
    • Mutations in the small GTPase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    • Verhoeven K, De Jonghe P Coen K, et al. Mutations in the small GTPase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-727.
    • (2003) Am J Hum Genet , vol.72 , pp. 722-727
    • Verhoeven, K.1    De Jonghe, P.2    Coen, K.3
  • 2
    • 4844231295 scopus 로고    scopus 로고
    • A novel RAB7 mutation associated with ulcero-mutilating neuropathy
    • Houlden H, King RH, Muddle JR, et al. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 2004;56:586-590.
    • (2004) Ann Neurol , vol.56 , pp. 586-590
    • Houlden, H.1    King, R.H.2    Muddle, J.R.3
  • 3
    • 0029150128 scopus 로고
    • Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
    • Kwon JM, Elliott JL, Yee WC, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-858.
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Elliott, J.L.2    Yee, W.C.3
  • 4
    • 0030928374 scopus 로고    scopus 로고
    • Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
    • De Jonghe P, Timmerman V, FitzPatrick D, et al. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997;62:570-573.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 570-573
    • De Jonghe, P.1    Timmerman, V.2    FitzPatrick, D.3
  • 5
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • Dawkins JL, Hulme DJ, Brahmbhatt SB, et al. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001;27:309-312.
    • (2001) Nat Genet , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3
  • 6
    • 24144442691 scopus 로고    scopus 로고
    • Rab conversion as a mechanism of progression from early to late endosomes
    • Rink J, Ghigo E, Kalaidzidis Y, Zerial M. Rab conversion as a mechanism of progression from early to late endosomes. Cell 2005;122:735-749.
    • (2005) Cell , vol.122 , pp. 735-749
    • Rink, J.1    Ghigo, E.2    Kalaidzidis, Y.3    Zerial, M.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.