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Sila Hopton

Newcastle University

19

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155

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A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

2021 Neuromuscular Disorders
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Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

2020 Neuromuscular Disorders
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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

2020 Neuromuscular Disorders
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Pathogenic Bi-Allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

2020 American Journal of Human Genetics
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Metabolic effects of bezafibrate in mitochondrial disease

2020 Embo Molecular Medicine
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Metabolic effects of bezafibrate in mitochondrial disease.

2020
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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

2019 Annals of clinical and translational neurology
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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

2019 Annals of clinical and translational neurology
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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

2018 Human Molecular Genetics
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Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

2018 Neurology Genetics
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Citations (14)