Kalliopi Sofou

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 245 citations · Full text

Life Sciences, Neurology, Pediatrics +12

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short‐ and long‐term outcomes

Kalliopi Sofou, Maria Dahlin, T Hallböök et al. · Journal of Inherited Metabolic Disease · 2017 · 202 citations · Full text

Medicine, Nutritional Sciences, Pediatrics +13

Whole exome sequencing reveals mutations in<i>NARS2</i>and<i>PARS2</i>, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Kalliopi Sofou, Gittan Kollberg, Maria Holmström et al. · Molecular Genetics & Genomic Medicine · 2014 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke Schouten, Judith van Gaalen et al. · European Journal of Human Genetics · 2019 · 93 citations · Full text

Life Sciences, Genetics, Neurology +16

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

Kalliopi Sofou, I.F.M. de Coo, Elsebet Østergaard et al. · Journal of Medical Genetics · 2017 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17