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53篇 您的检索式:作者名="Shanske"
    题名 作者 年代 出处 被引量
1Risk of developing a mitochondrial DNA deletion disorder显示文摘Chinnery PF DiMauro S Shanske S 2004Lancet2004,364,:1
2Itochondrial DNA and RNA processing in MELAS 显示文摘Kaufmann P Koga Y Shanske S 1996J Ann Neurol1996,,2:1
3MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitoehondrial diseases 显示文摘Moraes CT Shanske S Tritschler H J 1991Am J Hum Genet1991,48,3:1
4Identical mitochon-drial DNA deletion in a woman with ocular myopathy and in herson with pearson syndrome显示文摘SHANSKE S TANG Y HIRANO M 2002Am J Hum Genet2002,71,3:1
5Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy显示文摘Arnaudo E Dalakas M Shanske S 1991Lancet1991,337,8740:1
6Hypocitrullinemia in patients with MELAS:an insight into the 'MELAS paradox'显示文摘Naini A Kaufmann P Shanske S 0,,0:1
7An adult with 49, XYYYY karyotype:case report and endocrine studies显示文摘Shanske A Sachmechi I Patel DK 1998Am J Med Genet1998,80,2:1
8Mitochondrial DNA mutationsat nucleotide 8993 show a lack of tissue or age-related variation 显示文摘White SL Shanske S McGill JJ 1999JInherit Metab Dis1999,22,8:1
9Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome 显示文摘SHANSKE S MORAES C T LOMBES A 1990Neurology1990,40,:1
10Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy显示文摘Andreu AL Bruno C Shanske S 1998Neurology1998,51,11:1
11Oxidativephosphorylation dysfunction does not increase the rate ofaccumulation of age-related mtDNA deletions in skeletalmuscle显示文摘Tengan C H Gabbai A A Shanske S 1997Mutat Res1997,379,1:1
12Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase显示文摘Shanske S Sakoda S Hermodson MA 0,,30:1
13Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome显示文摘S. Shanske C. T. Moraes A. Lombes A. F. Miranda E. Bonilla P. Lewis M. A. Whelan C. A. Ellsworth S. DiMauro 1990Neurology1990,,1:1
14The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome 显示文摘Santorelli FM Shanske S Macaya A 1993Ann Neurol1993,34,6:1
15Isolation of a cDNA encoding the B isozyme of human phosphoglycetate mutase (PGAM) and characterization of the PGAM gene family显示文摘Sakoca S Shanske S DiMauro S 0,,32:1
16Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA显示文摘Tay SK Shanske S Crowe C 2005J Child Neurol2005,20,2:1
17Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA显示文摘 Shanske S Biros I 1999Prenat Diagn1999,19,:1
18Hypocitrullinemia in patients with MELAS: an insight into the 'MELAS paradox'显示文摘Naini A Kaufmann P Shanske S 2005Neurol Sci2005,229,:1
19High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart 显示文摘Fromenty B Carrozzo R Shanske S Sohon EA 1997Am J Med Genet1997,71,4:1
20Hypoeitmllinemia in patients with MELAS: an insight into the ' MELAS paradox' 显示文摘Naini A Kaufmann P Shanske S 2005J NeurolSci2005,,:1
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