Human mitochondrial transfer RNAs: role of pathogenic mutation in disease (Q36999837)

17 August 2017

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title

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease (English)

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17 August 2017

main subject

mitochondrial transfer

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Fernando Scaglia

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17 August 2017

Lee-Jun C Wong

series ordinal

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17 August 2017

publication date

1 February 2008

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17 August 2017

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17 August 2017

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17 August 2017

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17 August 2017

page(s)

150-171

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Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

17 August 2017

cites work

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A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

21 January 2018

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Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

21 January 2018

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Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

21 January 2018

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21 January 2018

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A Disease-Associated G5703A Mutation in Human Mitochondrial DNA Causes a Conformational Change and a Marked Decrease in Steady-State Levels of Mitochondrial tRNAAsn

21 January 2018

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Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

21 January 2018

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A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract

21 January 2018

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A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA Leu(UUR) 3254C-to-G

21 January 2018

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

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A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

21 January 2018

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In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

21 January 2018

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Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).

21 January 2018

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Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness

21 January 2018

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A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

21 January 2018

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Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

21 January 2018

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

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24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.2814477

Identifiers

DOI

10.1002/MUS.20917

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17 August 2017

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