Robert N Lightowlers researcher (ORCID 0000-0002-0587-9937)
Lightowlers, Robert, 19..-....
VIAF ID: 61157098464272551919 (Personal)
Permalink: http://viaf.org/viaf/61157098464272551919
Preferred Forms
4xx's: Alternate Name Forms (1)
Works
Title | Sources |
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Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease | |
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | |
Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired | |
Characterization of the human mitochondrial Arginyl-tRNA synthetase and contribution to the général understanding of pathologies linked to mutations on mitochondrial aminoacyl-tRNA synthetases. | |
Characterization of the mitochondrial translation apparatus of Arabidopsis thaliana | |
ClickIn: a flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives | |
A high frequency of mtDNA polymorphisms in HeLa cell sublines | |
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. | |
How much does a disrupted mitochondrial network influence neuronal dysfunction? | |
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. | |
Mitochondrial transplantation-a possible therapeutic for mitochondrial dysfunction?: Mitochondrial transfer is a potential cure for many diseases but proof of efficacy and safety is still lacking | |
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy | |
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation | |
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency | |
mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect | |
Mutations causing mitochondrial disease: What is new and what challenges remain? | |
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency | |
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation | |
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. | |
Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. | |
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease | |
The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules | |
Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria? | |
Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene | |
Strategies for treating disorders of the mitochondrial genome | |
What causes mitochondrial DNA deletions in human cells? |