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Alexander病1例报告与文献复习

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出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2010年第1期72-73,共2页 Journal of Apoplexy and Nervous Diseases
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参考文献18

  • 1Alexander WS. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant [ J ]. Brain, 1949,72:273-281.
  • 2Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP,encoding glial fibrillary acidic protein,are associated with Alexander disease [ J]. Nat Genet ,2001,27 ( 1 ) : 117-120.
  • 3Namekawa M, Takiyama Y, Aoki Y, et al. Identifiealion of GFAP gene mutation hereditary adult onset Alexander's disease [ J]. Ann Neurol, 2002,52 ( 6 ) : 779-785.
  • 4Stumpf E, Masson H, Dequette A, et al. Adult Alexander disease with autosomal dominant transmission:a distinct entity caused by mutation in the glial fibrillary acidic protein gene [J]. Arch Neurol,2003,60 (9) : 1307-1312.
  • 5Van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease : diagnosis with MR imaging [ J ]. AJNR Am J Neuroradiol, 2001,22 (3) :541-552.
  • 6Russo LS Jr,Aron A,Anderson PJ. Alexander' s disease:a report and reappraisal [ J ]. Neurology, 1976,26 (7) :607-614.
  • 7Sehwankhaus JD, Parisi JE, Gulledge WR, et al. Hereditary adult-on-set Alexander' s disease with palatal myoclous, spastic paraparesis and cerebellar ataxia [ J ]. Neurology, 1995,45 ( 12 ) :2266-2271.
  • 8Van Der Knaap MS, Ramesh V, Schittmann R, et al. Alexander disease: ventrieular garlands and abnormalities of medulla and spinal cord [J]. Neurology,2006,66(4) :494-498.
  • 9Farina L,Pareyson D, Minati L, et al. Can MR imaging diagnose adult-onset Alexander disease [ J] ? AJNR Am J Neuroradiol,2008,29 (6) :1190-1196.
  • 10朱杰明 鲍克容 郑英明 等.Alexander氏病2例报告.临床儿科杂志,1993,11(1):34-35.

二级参考文献24

  • 1Messing A, Goldman JE, Johnson AB, et al. Alexander disease: new insights from genetics. J Neuropathol Exp Neurol, 2001,60: 563-573.
  • 2Nonomura Y, Shimizu K, Nishimoto H, et al. Scoliosis in a patient with Alexander disease. J Spinal Disord Tech, 2002, 15: 261-264.
  • 3Brockmann K, Meins M, Taubert A, et al. Anovel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neural, 2003, 50: 100-105.
  • 4Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol, 2003, 18: 625-632.
  • 5Stumpf E, Masson H, Duquette A, et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol, 2003, 60: 1307-1312.
  • 6Li R, Johnson AB, Salomons G, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol, 2005, 57: 310-326.
  • 7Gorospe JR, Naidu S, Johnson AB, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology, 2002, 58: 1494-1500.
  • 8Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet, 2001, 27: 117-120.
  • 9Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. Am J Neuroradiol, 2001, 22 : 541- 552.
  • 10Probst EN, Hagel C, Weisz V, et al. Atypical focal MRI lesions in a case of juvenile Alexander' s disease. Ann Neurol, 2003,53 : 118-120.

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