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周围神经病、共济失调和视网膜色素变性综合征一例 被引量:2

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摘要 周围神经病、共济失调和视网膜色素变性(neuropathy,ataxia and retinitis pigmentosa,NARP)综合征是由线粒体编码的ATP6蛋白基因突变导致的母系遗传的线粒体脑肌病,
出处 《中华神经科杂志》 CAS CSCD 北大核心 2016年第5期391-393,共3页 Chinese Journal of Neurology
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参考文献14

  • 1Holt U, Harding AE, Petty RK, et al. A new mitochondrialdisease associated with mitochondrial DNA heteroplasmy [ J ]. AmJ Hum Genet, 1990,46(3) : 428-433. 被引量:1
  • 2Thorbum DR, Rahman S. Mitochondrial DNA-Associated LeighSyndrome and NARP[ M/OL]. Pagon RA,Adam MP, ArdingerHH, et al. Seattle ( WA) : University of Washington, 1993-2015[2014-04-17]. 被引量:1
  • 3White SL, Collins VR( Wolfe R, et al. Genetic counseling andprenatal diagnosis for the mitochondrial DNA mutations atnucleotide 8993 [J]. Am J Hum Genet, 1999, 65(2) : 474-482. 被引量:1
  • 4DiMauro S, Schon EA, Carelli V, et al. The clinical maze ofmitochondrial neurology[ J] . Nat Rev Neurol, 2013 , 9(8) : 429-444. 被引量:1
  • 5Rojo A, Campos Y,Sdnchez JM, et al. NARP-MILS syndromecaused by 8993 T > G mitochondrial DNA mutation : a clinical,genetic and neuropathological study [J ]. Acta Neuropathol,2006,111(6) : 610-616. 被引量:1
  • 6Childs AM, Hutchin T, Pysden K,et al. Variable phenotypeincluding Leigh syndrome with a 9185T > C mutation in theMTATP6 gene [ J ]. Neuropediatrics, 2007,38(6): 313-316. 被引量:1
  • 7Moslemi AR,Darin N,Tulinius M,et al. Two new mutations inthe MTATP6 gene associated with Leigh syndrome [ J ].Neuropediatrics, 2005, 36 (5 ): 314-318. 被引量:1
  • 8Castagna AE, Addis J, Mclnnes RR, et al. Late onset Leighsyndrome and ataxia due to a T to C mutation at bp 9, 185 ofmitochondrial DNA[J]. Am J Med Genet A, 2007, 143A(8):808-816. 被引量:1
  • 9Saneto RP, Singh KK. Illness-induced exacerbation of Leighsyndrome in a patient with the MTATP6 mutation, m. 9185 T > C[J]. Mitochondrion, 2010,10(5) ; 567-572. 被引量:1
  • 10金丹群,丁洁,童文佳,胡克非.以急性肺出血为突发表现的Leigh综合征二例临床及基因分析[J].中华儿科杂志,2015,53(4):290-295. 被引量:3

二级参考文献15

  • 1Leigh D. Subacute necrotizing encephalomyelopathy in an infant[ J ]. J Neurochem, 1951,14 ( 3 ) :216-221. 被引量:1
  • 2Quintana A,Zanella S, Koch H, et al. Fatal breathing dysfunction in a mouse model of Leigh syndrome[ J]. J Clin Invest,2012,122 (7) :2359-2368. 被引量:1
  • 3Castro-Gago M, Blanco-Barca MO, Campos-Gonzale Y, et al. Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain [ J ]. Pediatr Neurol, 2006,34 ( 3 ) : 204-211. 被引量:1
  • 4Baertling F, Rodenburg RJ, Schaper J, et al. A guide to diagnosis and treatment of Leigh syndrome [J]. Neurol Neurosurg Psychiatry,2014,85 ( 3 ) :257- 265. 被引量:1
  • 5Lee HF, Tsai CR, Chi CS, et, al. Leigh syndrome: clinical and neuroimaging follow-up [ J ]. Pediatr Neurol, 2009,40 ( 2 ) : 88 -93. 被引量:1
  • 6Sofou K, De Coo IF, Isohanni P, et al. A multicenter study on Leigh syndrome: disease course and predictors of survival [J]. Orphanet J Rare Dis,2014,15 ( 9 ) : 52. 被引量:1
  • 7Wick R, Scott G, Byard RW. Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalnmyelopathy) [ J ]. J Forensic Leg Med, 2007, 14 ( 1 ) : 42-45. 被引量:1
  • 8Ventura F, Rocca G , Gentile Syndrome : an autopsy case[ J] R, et al. Sudden Death in Leigh Am J Forensic Med Pathol, 2012,33(3) :259-261. 被引量:1
  • 9Inamasu J, Sugimoto K, Yamada Y, et al. The role of catecholamines in the pathogenesis of neuregenic pulmonary edama associated with subarachnoid hemorrhage [J]. Acta Neurochir ( Wien), 2012, 154(12) :2179-2184. 被引量:1
  • 10Cakmakci H, Pekcevik Y, Yis U, et al. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature [J]. Eur J Radiol, 2010, 74(3) : e161-171. 被引量:1

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