New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centreEwa Pronicka, Rafał Płoski, Agnieszka Pollak et al.|Journal of Translational Medicine|2016Cited by 233
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingElżbieta Ciara, Ewa Pronicka, Dariusz Rokicki et al.|Molecular Genetics and Metabolism Reports|2016Cited by 32
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndromeAgnieszka Karkucińska‐Więckowska, Ewa Pronicka, Joanna Trubicka et al.|Journal of Inherited Metabolic Disease|2013Cited by 27
Novel c.<scp>191C</scp>>G (p.<scp>Pro64Arg</scp>) <i><scp>MPV17</scp></i> mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathyDorota Piekutowska‐Abramczuk, Ewa Pronicka, Maciej Pronicki et al.|Clinical Genetics|2013Cited by 7
of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathiesSylwia Szymańska, Maciej Pronicki, Elżbieta Ciara et al.|Folia Neuropathologica|2014Cited by 6