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先天性髓鞘发育不良性神经病1例报告 被引量:1

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出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 2005年第1期23-23,i007,共2页 Chinese Journal of Nervous and Mental Diseases
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参考文献4

  • 1Phillips Jp, Warner LE, Iatpski JR, et al. Congenital hypomyelinating neuropathy: Two patients with long-term follow-up. Pediatr Neural,1999,20(3) : 228.
  • 2Warner LE, Mancias P, Buffer IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.Nature Genet, 1998, 18(4): 382.
  • 3Ghamdi M, Amstrong DL, Miller G. Congenital hypomyelinating neuropathy: a reversible case. Pediatr Neurol, 1997, 16(1): 71.
  • 4Balestrini MR, Cavaletti G,D' Angelo A, et al Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuropediatrics, 1991,22(2): 65.

同被引文献17

  • 1Dejerine J.Sur une forme particuliere de maladie de Friedreich avec atrophie musculaire et troubles de la sensibilité.CR Soc Biol,(Paris) 1890,42(3):43.
  • 2Dejerine J.Sottas L.Sur la nerrite interstitielle hypertrophique et progressive de I'enfance.CR Soc Biol,(Paris) 1893,45(2):246.
  • 3Bharucha EP,Sulaiman R,Bharucha NE.The neuropathy of Dejerine and Sottas:report of an Indian family.J Neurol Sci,1996,135 (1):78.
  • 4Dyck PJ.Definition and basis of classification of hereditary neuropathy with neuronal atrophy and degeneration.In:Dyck PJ,Thomas PK,Lambert EH,editors.Peripheral Neuropathy.Philadelphia:Saunders,1975.835-867.
  • 5Brust JC,Lovelace RE,Devi S.Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome.Acta Neurol Scand Supplement,1978,68:1.
  • 6Pareyson D.Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.Neurol Sci,2004,25(2):72.
  • 7Kennedy WR,Sung JH,Berry JF.A case of congenital hypomyelination neuropathy.Clinical,morphological,and chemical studies.Arch Neurol,1977,34(2):337.
  • 8Parman Y,Battaloglu E,Baris I,et al.Clinicopathological and geetic study of early-onset demyelinating neuropathy.Brain,2004,127(Pt 11):2540.
  • 9Plante-Bordeneuve V,Said G.Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Muscle Nerve,2002,26(5):608.
  • 10Simonati A,Fabrizi GM,Pasquinelli A,et al.Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.Neuromuscul Disord,1999,9(4):257.

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