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17篇 您的检索式:作者名="SACCONI S"
    题名 作者 年代 出处 被引量
1A functionally dominant mitochondrial DNA mutation显示文摘Sacconi S Salviati L Nishigaki Y 2008Hum Mol Genet2008,17,:1
2A novel CRYAB mutation resulting in muhisystemic disease 显示文摘Sacconi S Fasson L Antoine JC 2012Neuromuscul Disord2012,22,:1
3Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome显示文摘Salviati L Freehauf C Sacconi S 0,,02:1
4A novel CRYAB mutation resulting in multisystemic disease 显示文摘Sacconi S Feasson L Antoine JC 2012Neuromuscul Disord2012,22,1:1
5Mutation screening in patients with isolated cytochrome c oxidase deficiency显示文摘Sacconi S Salviati L Sue CM 2003Pediatr Res2003,53,2:1
6A novel CRYAB mutation resulting in muhisystemic disease 显示文摘Sacconi S F6asson L Antoine JC 2012Neuromuscul Disord2012,22,:1
7A novel CRY- AB mutation resulting in multisystemic disease显示文摘SACCONI S FEASSON L ANTOINE J C 2012Neuromuscul Disord2012,22,1:1
8Mitochondrial DNA depletion and dGK gene mutations显示文摘Salviati L Sacconi S Mancuso M 2002Ann Neurol2002,52,3:1
9Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXRIP) in facioscapulohumeral muscular dystrophy patients 显示文摘DAVIOVIC L SACCONI S BECHARA E G 2008J Med Genet2008,45,10:1
10Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease显示文摘Salviati L Sacconi S Rasalan MM 2002Arch Neurol2002,59,5:1
11A novel CRYAB mutation resulting in multisystemic disease 显示文摘Sacconi S Feasson L Antoine JC Pecheux C Bernard R Cobo AM 2012Neuromuscul Disord2012,22,1:1
12Coenzyme QI0 is fre- quently reduced in muscle of patients with mitochondrial myopa- thy显示文摘Sacconi S Trevisson E Salviati L 2010Neuromuscul Disord2010,20,1:1
13Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease显示文摘Sacconi S Bocquet JD Chanalet S 2010J Neurol2010,257,10:1
14Infantile encephalomyopathy and nephropathy with CoQ10 deficiency :a CoQ10-responsive condi- tion显示文摘Salviati L Sacconi S Murer L 2005Neurology2005,65,:1
15Multi-photon nanosurgery in live brain显示文摘Anna Letizia Allegra Mascaro Leonardo Sacconi Francesco S Pavone 0,,:1
16Alteration of expression of muscle specific isoforms of the fragile X related protein 1(FXR1P) in facioscapulohumeral muscular dystrophy patients显示文摘Davidovic L Sacconi S Bechara EG 2008J Med Genet2008,45,10:1
17Retinal involvement and genetic myopathy 显示文摘Sacconi S BaiUif-Gostoli S Desnuelle C 2010Rev Neurol2010,165,12:1
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