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Neurology
Volumn 63, Issue 4, 2004, Pages 733-735
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
Author keywords

[No Author keywords available]
Indexed keywords

GLUTAMIC ACID; MYELIN PROTEIN; VALINE;
EID: 4143145234     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000134605.61307.DE     Document Type: Article
Times cited : (27)
References (9)
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    • Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: Saunders, 1993:1094-1136.
    • (1993) Peripheral Neuropathy. 3rd Ed. , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.2    Lebo, R.3    Carney, J.A.4
  • 2
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    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 3
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoeven C, De Jonghe et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4:25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoeven, C.2    De Jonghe3
  • 4
    • 10744221158 scopus 로고    scopus 로고
    • Phenotypic clustering in MPZ mutations
    • Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-384.
    • (2004) Brain , vol.127 , pp. 371-384
    • Shy, M.E.1    Jáni, A.2    Krajewski, K.3
  • 5
    • 0031842421 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
    • Marossu MG, Vaccargiu S, Marossu G, Vanelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401.
    • (1998) Neurology , vol.50 , pp. 1397-1401
    • Marossu, M.G.1    Vaccargiu, S.2    Marossu, G.3    Vanelli, A.4    Cianchetti, C.5    Muntoni, F.6
  • 6
    • 0032949034 scopus 로고    scopus 로고
    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122: 281-290.
    • (1999) Brain , vol.122 , pp. 281-290
    • De Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 7
    • 0033027371 scopus 로고    scopus 로고
    • Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
    • Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66: 779-782.
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 779-782
    • Chapon, F.1    Latour, P.2    Diraison, P.3    Schaeffer, S.4    Vandenberghe, A.5
  • 8
    • 0028131591 scopus 로고
    • Rapid screening of myelin genes in CMT1 patients by SSCP analysis: Identification of new mutations and polymorphisms in the PO gene
    • Nelis E, Timmerman V, De Jonghe P, et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the PO gene. Hum Genet 1994;94:653-657.
    • (1994) Hum Genet , vol.94 , pp. 653-657
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.