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45篇 您的检索式：作者名="Santorelli FM"

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	题名	作者	年代	出处	被引量
1	Methylmalonic and Propionie Aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Seminars in Medical Genetics2006，142，2：	1
2	Collapsing glomerulopathy associated with inherited mitochondrial injury 显示文摘	Barisoni L Diomedi-Camassei F Santorelli FM	2008	Kidney Int2008，74，2：	1
3	Methylmalonic and propionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	AM J Med Genet C Sem in Med Genet2006，142，2：	1
4	Methylmalonic and propionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
5	COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement显示文摘	Diomedi-Camassei F Di Giandomenico S Santorelli FM	2007	J Am Soc Nephrol2007，18，10：	1
6	Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA('MERRF' mtation)显示文摘	Silvestri G Ciafaloni E Santorelli FM	1993	Neurology1993，43，：	1
7	Methylmalonic and Propionic Aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin2006，142，2：	1
8	Multiplemitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients显示文摘	Santorelli FM Sciacco M Tanji K	1996	Ann Neurol1996，39，6：	1
9	Methylmalonic and propionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
10	Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmet- ric lipomatosis: further evidence of a possible association 显示文摘	Mancuso M Bianchi MC Santorelli FM	1999	J Neurol1999，246，：	1
11	HyperCKemia as the only sign of McArdle's disease in a child显示文摘	Bruno C Bertini E Santorelli FM	2000	J Child Neurol2000，15，：	1
12	Methylmalonic and propionie aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
13	Multiple mitochondrial DNA deletions in sporadic inclusion body myositis:a study of 56 patients显示文摘	Sciacco M Tanji K	1996	Ann Neurol1996，39，6：	1
14	Chronic diarrhea associated with the A3243G mtDNA mutation显示文摘	Santorelli FM Villanova M Malandrini A		0，，：	1
15	Methylmalonic andpropionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，：	1
16	The 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	1993	Ann Neurol1993，34，6：	1
17	Multiple mitochondrial DNA deletions in sporadic inclusion body myositis:a study of 56patients显示文摘	Santorelli FM Sciacco M Tanji K	1996	Ann Neurol1996，39，6：	1
18	Methylmalonic and propionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
19	Methylmalonic and propionic aciduria显示文摘	Deodato F Boenzi S Santorelli FM	2006	Am J Med Genet C Semin Med Genet2006，142，2：	1
20	Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report 显示文摘	Boldrini R Biselli R Santorelli FM	2001	Ultrastruct Pathol2001，25，：	1

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