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Volumn 11, Issue 4, 2010, Pages 425-433

Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy

Author keywords

Charcot Marie Tooth disease; CMTX1; DM1; DMPK; GJB1; Myotonic dystrophy

Indexed keywords

GAP JUNCTION PROTEIN; MYOTONIC DYSTROPHY PROTEIN KINASE;

EID: 78651346924     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0246-5     Document Type: Article
Times cited : (11)

References (24)
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    • Ranum, L.P.1    Day, J.W.2
  • 4
    • 0027359513 scopus 로고
    • Screening of dominantly inherited Charcot-Marie-Tooth neuropathies
    • Ionasescu VV, Ionasescu R, Searby C (1993) Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve 16:1232-1238
    • (1993) Muscle Nerve , vol.16 , pp. 1232-1238
    • Ionasescu, V.V.1    Ionasescu, R.2    Searby, C.3
  • 10
    • 30344448848 scopus 로고    scopus 로고
    • Double trouble in hereditary neuropathy: Concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes
    • Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD (2006) Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 63:112-117
    • (2006) Arch Neurol , vol.63 , pp. 112-117
    • Hodapp, J.A.1    Carter, G.T.2    Lipe, H.P.3    Michelson, S.J.4    Kraft, G.H.5    Bird, T.D.6
  • 15
    • 69449093578 scopus 로고    scopus 로고
    • Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss
    • Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, de Die-Smulders CE (2009) Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. J Neurol Neurosurg Psychiatry 80:1029-1035
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 1029-1035
    • Spaans, F.1    Faber, C.G.2    Smeets, H.J.3    Hofman, P.A.4    Braida, C.5    Monckton, D.G.6    De Die-Smulders, C.E.7
  • 18
    • 0035852861 scopus 로고    scopus 로고
    • Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy
    • Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56:336-340
    • (2001) Neurology , vol.56 , pp. 336-340
    • Mathieu, J.1    Boivin, H.2    Meunier, D.3    Gaudreault, M.4    Begin, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.