Elżbieta Jurkiewicz

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Sergiusz Jóźwiak, Katarzyna Kotulska, Dorota Domańska‐Pakieła et al. · European Journal of Paediatric Neurology · 2011 · 309 citations · Full text

Medicine, Neurology, Pediatrics +15

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika Hartig, Arcangela Iuso, Tobias B. Haack et al. · The American Journal of Human Genetics · 2011 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +12

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

Katarzyna Kotulska, Dariusz Chmielewski, Julita Borkowska et al. · European Journal of Paediatric Neurology · 2013 · 109 citations

Medicine, Neurology, Pediatrics +13

Non‐neuronopathic Gaucher disease due to saposin C deficiency

Anna Tylki‐Szymańska, Barbara Czartoryska, M. T. Vanier et al. · Clinical Genetics · 2007 · 100 citations

Life Sciences, Genetics, Molecular Genetics +17