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Kalliopi Sofou

University of Gothenburg

31

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1352

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One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure.

2021 European Journal of Epidemiology
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The phenotypic variability and natural history of NARS2 associated disease.

2021 European Journal of Paediatric Neurology
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Long term treatment with ataluren-the Swedish experience.

2021 BMC Musculoskeletal Disorders
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Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.

2021 Embo Molecular Medicine
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

2019 European Journal of Human Genetics
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SITUPS : a new tool for oral case presentation in the paediatric emergency department

2019 Acta Paediatrica
- Kalliopi Sofou
- Kristina Bry
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Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

2019 European Journal of Human Genetics
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Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency

2019 Mitochondrion
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

2018 Journal of Medical Genetics
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Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

2017 Journal of Inherited Metabolic Disease
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Citations (89)