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Volumn 68, Issue 12, 2007, Pages 960-961

Phenotypes of female adrenoleukodystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; ADULT; ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CAUSE OF DEATH; CEREBELLUM ATROPHY; CLINICAL FEATURE; DEMYELINATION; DISEASE COURSE; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; WALKING DIFFICULTY;

EID: 34147190782     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000257129.51273.73     Document Type: Article
Times cited : (20)

References (7)
  • 1
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-1508.
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.W.1
  • 2
    • 0027532282 scopus 로고
    • Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
    • Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730.
    • (1993) Nature , vol.361 , pp. 726-730
    • Mosser, J.1    Douar, A.M.2    Sarde, C.O.3
  • 3
    • 29544446329 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: New approaches to a neurodegenerative disease
    • Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 2005;294:3131-3134.
    • (2005) JAMA , vol.294 , pp. 3131-3134
    • Moser, H.W.1    Raymond, G.V.2    Dubey, P.3
  • 4
    • 0018976379 scopus 로고
    • Addison disease and cerebral sclerosis in an apparently heterozygous girl: Evidence for inactivation of the adrenoleukodystrophy locus
    • Heffungs W, Hameister H, Ropers HH. Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus. Clin Genet 1980;18:184-188.
    • (1980) Clin Genet , vol.18 , pp. 184-188
    • Heffungs, W.1    Hameister, H.2    Ropers, H.H.3
  • 5
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 6
    • 0019987554 scopus 로고
    • Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration
    • Marsden CD, Obeso JA, Lang AE. Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. Neurology 1982;32:1031-1032.
    • (1982) Neurology , vol.32 , pp. 1031-1032
    • Marsden, C.D.1    Obeso, J.A.2    Lang, A.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.