Publications by authors named "Ewa Pronicka"

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Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Joanna M Rusecka, Biruta Kierdaszuk, Iwona Stępniak, Małgorzata Rydzanicz, Piotr Stawiński, Ewa Pronicka

J Appl Genet· August 2025

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PIGN encephalopathy: Characterizing the epileptology.
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Ewa Pronicka

Epilepsia· April 2022

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Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Agnieszka Janiec, Paulina Halat-Wolska, Łukasz Obrycki, Elżbieta Ciara, Marek Wójcik, Ewa Pronicka

Nephrol Dial Transplant· July 2021

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Analysis of vitamin D metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
Ewa Kowalska, Rafał Rola, Marek Wójcik, Natalia Łaszcz, Paweł Płudowski, Ewa Pronicka

J Steroid Biochem Mol Biol· April 2021

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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Ewa Pronicka

Hum Mutat· March 2021

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The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Anna Sułek, Natalia Jurkowska, Mariusz Ołtarzewski, Ewa Pronicka

Mitochondrion· July 2019

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Leigh syndrome caused by mutations in is associated with a better prognosis.
Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Ewa Pronicka

Ann Clin Transl Neurol· March 2019

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Ewa Pronicka

Orphanet J Rare Dis· July 2018

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Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D Webb, Robert McFarland, Ewa Pronicka

Hum Mutat· April 2018

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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Elżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Ewa Pronicka

J Hum Genet· April 2018

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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G Feichtinger, Eliška Koňařiková, Katarzyna Iwanicka-Pronicka, Ewa Pronicka

Am J Hum Genet· March 2018

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Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Dorota Piekutowska-Abramczuk, Rafał Rutyna, Elżbieta Czyżyk, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Ewa Pronicka

Metab Brain Dis· February 2018

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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Ewa Pronicka

Ann Neurol· December 2017

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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, Magdalena Pajdowska, Markus Linke, Katarzyna Iwanicka-Pronicka

J Inherit Metab Dis· November 2017

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Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Ewa Pronicka

Am J Med Genet A· November 2017

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Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki

Neurol Neurochir Pol· August 2017

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Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik

J Appl Genet· August 2017

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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Ewa Pronicka

Clin Chim Acta· August 2017

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Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Ewa Pronicka

Folia Neuropathol· May 2017

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Hypocapnic hypothesis of Leigh disease.
Ewa Pronicka

Med Hypotheses· April 2017

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Ewa Pronicka

Am J Hum Genet· October 2016

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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Oláhová, Ewa Pronicka

Am J Hum Genet· July 2016

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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, Joanna Trubicka, Dariusz Rokicki

J Transl Med· June 2016

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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Aleksandra Jezela-Stanek, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Joanna Trubicka, Elżbieta Jurkiewicz, Ewa Pronicka

Eur J Paediatr Neurol· May 2016

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Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II.
Miroslaw Bik-Multanowski, Ewa Jamroz, Lukasz Kaluzny, Ewa Pronicka, Dariusz Rokicki

Mol Genet Metab Rep· March 2016

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