메뉴 건너뛰기




Volumn 87, Issue 23, 2007, Pages 1611-1615

Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: Report of 5 cases

Author keywords

Androgen receptor; Genetic diagnosis; Kennedy disease; Spinobulbar muscular atrophy

Indexed keywords

ANDROGEN RECEPTOR; CREATINE KINASE; GLUCOSE; PROGESTERONE; TESTOSTERONE;

EID: 34548101366     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (16)
  • 1
    • 34548056341 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.
  • 2
    • 0025800526 scopus 로고
    • Androgen receptor gone mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gone mutations in X-linked spinal and bulbar muscular atrophy. Nature, 1991, 352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3
  • 3
    • 18544389189 scopus 로고    scopus 로고
    • A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to GAG repeat length
    • Dejager S, Bry-Gauillard H, Bruckert E, et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to GAG repeat length. J Clin Endocrinal Metab, 2002, 87:3893-3901.
    • (2002) J Clin Endocrinal Metab , vol.87 , pp. 3893-3901
    • Dejager, S.1    Bry-Gauillard, H.2    Bruckert, E.3
  • 4
    • 0031875442 scopus 로고    scopus 로고
    • High prevalence of Kennedy's disase in Western Finland-is the synduome underdiagnosed? Acts
    • Udd B, Juvonen V, Hakamies L, et al. High prevalence of Kennedy's disase in Western Finland-is the synduome underdiagnosed? Acts. Neurol Scand, 1998, 98:128-133.
    • (1998) Neurol Scand , vol.98 , pp. 128-133
    • Udd, B.1    Juvonen, V.2    Hakamies, L.3
  • 5
    • 34548104817 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.
  • 6
    • 0034793311 scopus 로고    scopus 로고
    • Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy
    • Ishibara, H, Kanda F, Chihara K, et al. Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy. J Neurol, 2000, 284:856-860.
    • (2000) J Neurol , vol.284 , pp. 856-860
    • Ishibara, H.1    Kanda, F.2    Chihara, K.3
  • 7
    • 2942585569 scopus 로고    scopus 로고
    • Kenneky disease: Pathogenesis and clinical approaches
    • Greenland KJ, Zajac JD. Kenneky disease: pathogenesis and clinical approaches. Inter Med J, 2004, 34:279-286.
    • (2004) Inter Med J , vol.34 , pp. 279-286
    • Greenland, K.J.1    Zajac, J.D.2
  • 8
    • 0033978812 scopus 로고    scopus 로고
    • Sensory involvement in spinal bulbar muscular atrophy (Kennedy's disease)
    • Antonini G, Gragnani F, Romaniello A, et al. Sensory involvement in spinal bulbar muscular atrophy (Kennedy's disease). Muscle Nerve, 2000, 23:252-258.
    • (2000) Muscle Nerve , vol.23 , pp. 252-258
    • Antonini, G.1    Gragnani, F.2    Romaniello, A.3
  • 9
    • 0023791805 scopus 로고
    • Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy( Kenneky-Alter-Sung syndrome). Autopsy case report of two brothers
    • Nagashima T, Seko K, Hixow K, et al. Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy( Kenneky-Alter-Sung syndrome). Autopsy case report of two brothers. J Neurol Sci, 1988, 87(2-3):141-152.
    • (1988) J Neurol Sci , vol.87 , Issue.2-3 , pp. 141-152
    • Nagashima, T.1    Seko, K.2    Hixow, K.3
  • 10
    • 0024586435 scopus 로고
    • X-linked recessive bulbospind neuronopathy. A clinicopathological study
    • Sobue G, Hashizumie Y, Mukai E, et al. X-linked recessive bulbospind neuronopathy. A clinicopathological study. Brain, 1989, 112(Pt 1):109-132.
    • (1989) Brain , vol.112 , Issue.PART 1 , pp. 109-132
    • Sobue, G.1    Hashizumie, Y.2    Mukai, E.3
  • 11
    • 0028843242 scopus 로고
    • Abnormal androgen receptor binding affinity in subjects with Kennedy disease (spinal and bulbar muscular atrophy)
    • MacLean HE, Choi WT, Rekaris G, et al. Abnormal androgen receptor binding affinity in subjects with Kennedy disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab, 1995, 80:508-516.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 508-516
    • MacLean, H.E.1    Choi, W.T.2    Rekaris, G.3
  • 12
    • 0024999659 scopus 로고
    • X-linked spinal muscular atrophy (Kinnedy's syndrome). A kindred with Hypobetalipoproteinemia
    • Warner CL, Servidei S, Lange DJ, et al. X-linked spinal muscular atrophy (Kinnedy's syndrome). A kindred with Hypobetalipoproteinemia. Arch Neurol, 1990, 47:1117-1120.
    • (1990) Arch Neurol , vol.47 , pp. 1117-1120
    • Warner, C.L.1    Servidei, S.2    Lange, D.J.3
  • 13
    • 17644427375 scopus 로고    scopus 로고
    • A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy
    • Echaniz-Laguna A, Rousso E, Anheim M, et al. A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. Neurology, 2005, 26:1458-1480.
    • (2005) Neurology , vol.26 , pp. 1458-1480
    • Echaniz-Laguna, A.1    Rousso, E.2    Anheim, M.3
  • 14
    • 0026551039 scopus 로고
    • Genetic variation at the five trimeric and tetrameric tandem repeat loci m four human population groups
    • Edwards A, Hammond HA, Jin L, et al. Genetic variation at the five trimeric and tetrameric tandem repeat loci m four human population groups. Genomics, 1992, 12:241-253.
    • (1992) Genomics , vol.12 , pp. 241-253
    • Edwards, A.1    Hammond, H.A.2    Jin, L.3
  • 15
    • 0030700891 scopus 로고    scopus 로고
    • Rethinking genotype and phenotype correlation in the polyglutamine epansion disorders
    • Andrew S, Goldberg YO, Hayden MR, et al. Rethinking genotype and phenotype correlation in the polyglutamine epansion disorders. Hum Mol Genet, 1997, 6:2002-2010.
    • (1997) Hum Mol Genet , vol.6 , pp. 2002-2010
    • Andrew, S.1    Goldberg, Y.O.2    Hayden, M.R.3
  • 16
    • 3543107252 scopus 로고    scopus 로고
    • Clinical and electrophysiological features in Chinese patients with Kennedy's disease
    • Hui ACF, Cheung PT, Tang ASY, et al. Clinical and electrophysiological features in Chinese patients with Kennedy's disease. Clin Neurol Neurosurg, 2004, 106:309-312.
    • (2004) Clin Neurol Neurosurg , vol.106 , pp. 309-312
    • Hui, A.C.F.1    Cheung, P.T.2    Tang, A.S.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.