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28篇 您的检索式：作者名="TIRANTI V"

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	题名	作者	年代	出处	被引量
1	Role of adenine nucleotide translocator I in mtDNA maintenance显示文摘	Kaukonen J Juselius JK Tiranti V	2000	Science2000，289，：	1
2	Different penetrance of neurological symptoms associated with a mutation in the mitochondrial tRNASer(UCN) gene显示文摘	Verhoeven K Ensink RJH Tiranti V	1999	European Journal of Human Genetics1999，7，：	1
3	Mutatiohs of mitochondrial DNA polymerase Gamma are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia显示文摘	Lamantea E Tiranti V Bordoni A	2002	Ann Neurol2002，52，2：	1
4	Role of adenine nucleotide translocator 1 in mtDNA maintenance显示文摘	Kaukonen J Juselius JK Tiranti V	2000	Science2000，289，5480：	1
5	A novel frameshift mutation of the mtDNA CO III gene leads to the impaired assembly of cytochrome C oxidase in a patient affected by Leigh-like syndrome 显示文摘	Tiranti V Corona P Greco M	2000	Hum Mol Gene2000，9，18：	1
6	Loss of ETHEl, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethyl-malonic encephalopathy 显示文摘	Tiranti V Viseomi C Hildebrandt T	2009	Nat med2009，15，2：	1
7	Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency显示文摘	Tiranti V Hoertnagel K Carrozzo R	1998	Am J Hum Genet1998，63，：	1
8	Altered sulfide (H2S) metabolism in ethylmalonie encephalopathy显示文摘	Tiranti V Zeviani M	2013	Cold Spring Harb Perspect Biol2013，5，1：	1
9	Ethylmalonic eneepha- lopathy is caused by mutations in ETHEl ,a gene encoding a mitoehondrial matrix protein显示文摘	Tiranti V D'Adamo P Briem E	2004	Am J Hum Genet2004，74，7：	1
10	Loss of ETHEl, a mitochondrial dioxygenase,causes fatal sulfide toxicity in eth- ylmalonic encephalopathy显示文摘	Tiranti V Viscomi C Hildebrandt T	2009	Nat Med2009，2，2：	1
11	Maternally inherited hearing loss,ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN)gene显示文摘		1995	Hum Mol Genet1995，4，8：	1
12	Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency显示文摘	Tiranti V Jaksch M Hofmann S	1999	Ann Neurol1999，46，2：	1
13	Assembly of the oxi- dative phosphorylation system in humans: what we have learned by studying its defects显示文摘	Fem6ndez-Vizarra E Tiranti V Zeviani M	2009	Biochim Biophys Acta2009，1793，1：	1
14	Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency显示文摘	Tiranti V Hoertnagel K Carrozzo R Galimberti C Munaro M Granatiero M	1998	Am J Hum Genet1998，63，6：	1
15	Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals显示文摘	Rovio A Tiranti V Bednarz AL	1999	Eur J Hum Genet1999，7，2：	1
16	Mutations of mitochondrial DNA polymerase gamma are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia显示文摘	Lamantea E Tiranti V Bordoni A	2002	Ann Neurol2002，52，2：	1
17	ETHEl mutations are specific to ethylmalonic encephalopathy 显示文摘	Tiranti V Briem E Lamantea E	2006	J Med Genet2006，43，4：	1
18	Altered sulfide (H(2)S) metabolism in ethylmalonic eneephalopathy 显示文摘	Tiranti V Zeviani M	2013	Cold Spring Harb PerspectBiol2013，5，11：	1
19	Ethylmalonic encephalopathy is caused by mutations in ETHEl, a gene encoding a mitochondrial matrix protein 显示文摘	Tiranti V D'Adamo P Briem E	2004	Am J Hum Genet2004，74，2：	1
20	Loss of ETHEl, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy 显示文摘	Tiranti V Viscomi C Hildebrandt T	2009	Nat Med2009，15，2：	1

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