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Marina Bartsakoulia

Newcastle University

9

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151

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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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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

2018 Human Molecular Genetics
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Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons

2016 Mitochondrion
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Supplementation with L-cysteine improves mitochondrial protein synthesis in a subgroup of mitochondrial translation deficiencies

2016 Mitochondrion
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Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

2016 Journal of neuromuscular diseases
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Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

2014 Journal of neuromuscular diseases
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P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

2014 Neuromuscular Disorders
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