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Publications by Elżbieta Ciara

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy

American Journal of Human Genetics
Genetics
2018English

New Perspective in Diagnostics of Mitochondrial Disorders: Two Years’ Experience With Whole-Exome Sequencing at a National Paediatric Centre

Journal of Translational Medicine
BiochemistryMedicineGeneticsMolecular Biology
2016English

A Scoring System Predicting the Clinical Course of CLPB Defect Based on the Foetal and Neonatal Presentation of 31 Patients

Journal of Inherited Metabolic Disease
Genetics
2017English

Mild Phenotype of Glutaric Aciduria Type 1 in Polish Patients – Novel Data From a Group of 13 Cases

Metabolic Brain Disease
BiochemistryMolecular NeuroscienceNeurologyCellular
2018English

Neuropathological Characteristics of the Brain in Two Patients With SLC19A3 Mutations Related to the Biotin-Thiamine-Responsive Basal Ganglia Disease

Folia Neuropathologica
Forensic MedicinePathologyNeurology
2017English

Bilateral Striatal Necrosis Caused by ADAR Mutations in Two Siblings With Dystonia and Freckles-Like Skin Changes That Should Be Differentiated From Leigh Syndrome

Folia Neuropathologica
Forensic MedicinePathologyNeurology
2016English

No Evidence for Association of SCO2 Heterozygosity With High-Grade Myopia or Other Diseases With Possible Mitochondrial Dysfunction

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

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