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X-连锁的腓骨肌萎缩症与Connexin32 被引量:2

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出处 《卒中与神经疾病》 2001年第6期378-379,共2页 Stroke and Nervous Diseases
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  • 1P. J. Ainsworth,C. F. Bolton,B. C. Murphy,J. A. Stuart,A. F. Hahn. Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene[J] 1998,Human Genetics(2):242~244 被引量:1

同被引文献20

  • 1郭鹏,唐北沙,赵国华,刘小民,张付峰,张如旭,沈璐,江泓,梁静慧.腓骨肌萎缩症的病理学特点和基因突变[J].中华医学杂志,2005,85(34):2382-2385. 被引量:4
  • 2[2]Nicholson G,Nash J.Intermediate nerve conduction velocities define X-linked Charcot-Marie-1Tooth neuropathy families[J].Neurology,1993,43:2558. 被引量:1
  • 3[3]Birouk N,LeGuern E,Maisonobe T,et al.X-linked Charcot-Marie-Tooth disease with connexin32 mutations:clinical and electrophysiologic study[J].Neurology,1998,50:1074-1082. 被引量:1
  • 4[4]Nicholson G,Corbett A.Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses[J].J Neurol Neurosurg Psychiatry,1996,61:43-46. 被引量:1
  • 5[5]Bahr M,Andres F,Timmerman V,et al.Central visual,acoustic,and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene[J].J Neurol Neurosurg Psychiatry,1999,66:202-206. 被引量:1
  • 6[6]Stojkovic T,Latour P,Vandenberghe A,et al.Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)[J].Neurology,1999,52:1010-1014. 被引量:1
  • 7[7]Lee MJ,Nelson I,Houlden H,et al.Six novel connexin 32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease[J].J Neurol Neurosurg Psychiatry,2002,73:304-306. 被引量:1
  • 8[8]Takashima H,Nakagawa M,Umehara F,et al.Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease[J].Acta Neurol Scand,2003,107:31-37. 被引量:1
  • 9[9]Paulson HL,Garbern JY,Hoban TF,et al.Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease[J].Ann Neurol,2002,52:429-434. 被引量:1
  • 10[10]Schelhaas HJ,Van Engelen BG,Gabreels-Festen AA,et al.Transient cerebral white matter lesions in a patient with connexin 32 missense mutation[J].Neurology,2002,59:2007-2008. 被引量:1

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