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Veronika Boczonadi

Newcastle University

36

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1007

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Mitochondrial Translation Deficiencies

2021
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Confocal Endomicroscopy of Neuromuscular Junctions Stained with Physiologically Inert Protein Fragments of Tetanus Toxin.

2021
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

2020 The EMBO Journal
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Mitochondrial DNA transcription and translation: clinical syndromes.

2018 Essays in Biochemistry
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The role of tRNA synthetases in neurological and neuromuscular disorders

2018 FEBS Letters
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

2018 Human Molecular Genetics
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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

2018 Genetics in Medicine
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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

2018 Human Molecular Genetics
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Genetic heterogeneity of motor neuropathies

2017 Neurology
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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

2016 Human Molecular Genetics
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Citations (29)