Maciej Pronicki

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076 Tübingen, Germany. Electronic address:

View Article and Find Full Text PDF

November 2018

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review.

Authors:

Katarzyna Pasternak-Pietrzak Constantine A Stratakis Elżbieta Moszczyńska Agnieszka Lecka-Ambroziak Michał Staniszewski Urszula Wątrobińska Charalampos Lyssikatos Monika Prokop-Piotrkowska Wiesława Grajkowska Maciej Pronicki Mieczysław Szalecki

Endokrynol Pol 2018 27;69(6):675-681. Epub 2018 Sep 27.

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

April 2019

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Authors:

Elżbieta Ciara Dariusz Rokicki Michal Lazniewski Hanna Mierzewska Elżbieta Jurkiewicz Monika Bekiesińska-Figatowska Dorota Piekutowska-Abramczuk Katarzyna Iwanicka-Pronicka Edyta Szymańska Piotr Stawiński Joanna Kosińska Agnieszka Pollak Maciej Pronicki Dariusz Plewczyński Rafał Płoski Ewa Pronicka

J Hum Genet 2018 Apr 6;63(4):473-485. Epub 2018 Feb 6.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

April 2018

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Authors:

Edyta Szymańska Sylwia Szymańska Grażyna Truszkowska Elżbieta Ciara Maciej Pronicki Yoon S Shin Teodor Podskarbi Alina Kępka Mateusz Śpiewak Rafał Płoski Zofia T Bilińska Dariusz Rokicki

Arch Med Sci 2018 Jan 19;14(1):237-247. Epub 2017 Dec 19.

Department of Pediatrics, Nutrition and Metabolic Disorders, the Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

January 2018

Heart Transplantation and Risk of Cardiac Vasculopathy Development: What Factors Are Important?

Authors:

Małgorzata Sobieszczańska-Małek Jerzy Korewicki Krzysztof Komuda Małgorzata Karczmarz Sylwia Szymańska Alicja Cicha-Mikołajczyk Paweł Bekta Adam Parulski Maciej Pronicki Wiesława Grajkowska Grzegorz Małek Przemysław Leszek Maria Kaczorowska Mariusz Kuśmierczyk Tomasz Zieliński

Ann Transplant 2017 Nov 17;22:682-688. Epub 2017 Nov 17.

Departament of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland.

View Article and Find Full Text PDF

November 2017

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

Authors:

Patryk Lipiński Irena Jankowska Agnieszka Ługowska Małgorzata Musielak Maciej Pronicki Anna Tylki-Szymańska

Pediatr Neonatol 2018 06 12;59(3):317-318. Epub 2017 Oct 12.

Department of Pediatrics, Nutritional and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

June 2018

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.

Authors:

Joanna Trubicka Iwona Filipek Piotr Iwanowski Małgorzata Rydzanicz Wiesława Grajkowska Dorota Piekutowska-Abramczuk Krystyna Chrzanowska Agnieszka Karkucińska-Więckowska Katarzyna Iwanicka-Pronicka Maciej Pronicki Maria Łastowska Rafał Płoski Bożenna Dembowska-Bagińska

Cancer Genet 2017 Oct 20;216-217:79-85. Epub 2017 Jul 20.

Department of Oncology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.

View Article and Find Full Text PDF

October 2017

Polish Experience with Liver Transplantation and Post-Transplant Outcomes in Children with Urea Cycle Disorders.

Authors:

Edyta Szymańska Piotr Kaliciński Joanna Pawłowska Sylwia Szymańska Maciej Pronicki Marek Stefanowicz Joanna Teisseyre Dorota Broniszczak Dariusz Rokicki

Ann Transplant 2017 Sep 15;22:555-562. Epub 2017 Sep 15.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

September 2017

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway.

Authors:

Aleksandra Wojtala Agnieszka Karkucinska-Wieckowska Vilma A Sardao Joanna Szczepanowska Pawel Kowalski Maciej Pronicki Jerzy Duszynski Mariusz R Wieckowski

Mitochondrion 2017 11 21;37:62-79. Epub 2017 Jul 21.

Department of Biochemistry, Nencki Institute of Experimental Biology, Warsaw, Poland. Electronic address:

View Article and Find Full Text PDF

November 2017

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.

Authors:

Maciej Pronicki Dorota Piekutowska-Abramczuk Elżbieta Jurkiewicz Dariusz Rokicki Elżbieta Ciara Joanna Trubicka Katarzyna Iwanicka-Pronicka Magdalena Pajdowska Marek Migdał Wieslawa A Grajkowska

Folia Neuropathol 2017 ;55(2):146-153

View Article and Find Full Text PDF

February 2018

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

View Article and Find Full Text PDF

August 2017

Wilson disease - liver pathology.

Authors:

Maciej Pronicki

Handb Clin Neurol 2017 ;142:71-75

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

View Article and Find Full Text PDF

March 2018

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients.

Authors:

Maria Łastowska Joanna Trubicka Magdalena Niemira Magdalena Paczkowska-Abdulsalam Agnieszka Karkucińska-Więckowska Magdalena Kaleta Monika Drogosiewicz Magdalena Tarasińska Marta Perek-Polnik Adam Krętowski Bożenna Dembowska-Bagińska Wiesława Grajkowska Maciej Pronicki Ewa Matyja

Am J Surg Pathol 2017 Jun;41(6):781-787

*Department of Pathology §Clinic of Oncology, The Children's Memorial Health Institute †Department of Experimental and Clinical Pathology, Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw ‡Clinical Research Centre ∥Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Białystok, Poland.

View Article and Find Full Text PDF

June 2017

Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn's disease.

Authors:

Edyta Szymanska Maciej Dadalski Wieslawa Grajkowska Sylwia Szymanska Maciej Pronicki Jaroslaw Kierkus

Prz Gastroenterol 2017 20;12(1):44-48. Epub 2016 Dec 20.

Department of Gastroenterology, Hepatology, and Feeding Disorders, Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

December 2016

Prevalence of the Quilty effect in endomyocardial biopsy of patients after heart transplantation - from cellular rejection to antibody-mediated rejection?

Authors:

Sylwia Szymanska Wieslawa Grajkowska Malgorzata Sobieszczanska-Malek Tomasz Zielinski Michal Pyzlak Maciej Pronicki

Pol J Pathol 2016;67(3):216-220

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

June 2017

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

Authors:

Dorota Piekutowska-Abramczuk Hanna Mierzewska Monika Bekiesińska-Figatowska Elżbieta Ciara Joanna Trubicka Maciej Pronicki Dariusz Rokicki Małgorzata Rydzanicz Rafał Płoski Ewa Pronicka

Folia Neuropathol 2016 ;54(4):405-409

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

May 2017

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

Authors:

Magdalena Mroczek Dagmara Kabzińska Krystyna H Chrzanowska Maciej Pronicki Andrzej Kochański

J Appl Genet 2017 May 10;58(2):199-203. Epub 2016 Oct 10.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawi ńskiego 5, 02-106, Warsaw, Poland.

View Article and Find Full Text PDF

May 2017

The impact of induction therapy with three doses of infliximab on deep histological healing in paediatric patients with active Crohn's disease.

Authors:

Edyta Szymanska Maciej Dadalski Sylwia Szymanska Wieslawa Grajkowska Maciej Pronicki Jaroslaw Kierkus

Prz Gastroenterol 2016 8;11(3):176-180. Epub 2016 Feb 8.

Department of Gastroenterology, Hepatology, and Feeding Disorders, Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

February 2016

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

Authors:

Ewa Pronicka Dorota Piekutowska-Abramczuk Elżbieta Ciara Joanna Trubicka Dariusz Rokicki Agnieszka Karkucińska-Więckowska Magdalena Pajdowska Elżbieta Jurkiewicz Paulina Halat Joanna Kosińska Agnieszka Pollak Małgorzata Rydzanicz Piotr Stawinski Maciej Pronicki Małgorzata Krajewska-Walasek Rafał Płoski

J Transl Med 2016 06 12;14(1):174. Epub 2016 Jun 12.

Department of Medical Genetics, Warsaw Medical University, Pawińskiego str, 02-106, Warsaw, Poland.

View Article and Find Full Text PDF

June 2016

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature.

Authors:

Agata Skórka Elżbieta Moszczyńska Karolina Kot Marcin Roszkowski Elżbieta Jurkiewicz Wiesława Grajkowska Maciej Pronicki Olgierd Pilecki Mieczysław Szalecki

Ital J Pediatr 2015 Sep 2;41:62. Epub 2015 Sep 2.

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20 04-730, Warsaw, Poland.

View Article and Find Full Text PDF

September 2015

Post-Transplant Lymphoproliferative Disorder (PTLD) Manifesting in the Oral Cavity of a 13-Year-Old Liver Transplant Recipient (LTx).

Authors:

Ewa Krasuska-Sławińska Izabela Minko-Chojnowska Joanna Pawłowska Bożenna Dembowska-Bagińska Maciej Pronicki Dorota Olczak-Kowalczyk

Ann Transplant 2015 Aug 18;20:478-82. Epub 2015 Aug 18.

Department of Paediatric Dentistry, Medical University of Warsaw Institute of Dentistry, Warsaw, Poland.

View Article and Find Full Text PDF

August 2015

Reclassification of C4d-Positive Endomyocardial Biopsy (EMB) According to New International Society for Heart and Lung Transplantation (ISHLT) 2013 Categories for Reporting Pathologic Antibody-Mediated Rejection (pAMR): Preliminary Data from a Polish Single-Center Study.

Authors:

Sylwia Szymańska Wiesława Grajkowska Małgorzata Sobieszczańska-Małek Tomasz Zieliński Maciej Pronicki

Ann Transplant 2015 Jun 23;20:351-6. Epub 2015 Jun 23.

Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

June 2015

Fatal rituximab-associated lung injury syndrome in a patient treated with rituximab for recurrence of post-transplant nephrotic syndrome.

Authors:

Ryszard Grenda Wioletta Jarmużek Jacek Rubik Marek Migdał Maciej Pronicki

Pediatr Transplant 2015 Aug 30;19(5):E115-20. Epub 2015 Apr 30.

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

August 2015

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours.

Authors:

Maria Łastowska Elżbieta Jurkiewicz Joanna Trubicka Paweł Daszkiewicz Monika Drogosiewicz Katarzyna Malczyk Wiesława Grajkowska Ewa Matyja Bożena Cukrowska Maciej Pronicki Marta Perek-Polnik Danuta Perek Bożenna Dembowska-Bagińska

J Neurooncol 2015 May 11;123(1):65-73. Epub 2015 Apr 11.

Department of Pathology, The Children's Memorial Health Institute, Av. Dzieci Polskich 20, 04-730, Warsaw, Poland,

View Article and Find Full Text PDF

May 2015

Leigh disease due to SCO2 mutations revealed at extended autopsy.

Authors:

Tamara Szymanska-Debinska Agnieszka Karkucinska-Wieckowska Dorota Piekutowska-Abramczuk Elżbieta Jurkiewicz Katarzyna Iwanicka-Pronicka Dariusz Rokicki Maciej Pronicki

J Clin Pathol 2015 May 26;68(5):397-9. Epub 2015 Feb 26.

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

May 2015

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Authors:

Sylwia Szymanska Dariusz Rokicki Agnieszka Karkucinska-Wieckowska Tamara Szymanska-Debinska Elzbieta Ciara Rafal Ploski Wieslawa Grajkowska Maciej Pronicki

Folia Neuropathol 2014 ;52(4):452-6

Maciej Pronicki, Department of Pathology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland, phone: +48 228151960, fax: +48 228151975, e-mail:

View Article and Find Full Text PDF

December 2015

Histoenzymatic methods for visualization of the activity of individual mitochondrial respiratory chain complexes in the muscle biopsies from patients with mitochondrial defects.

Authors:

Agnieszka Karkucinska-Wieckowska Maciej Pronicki Mariusz R Wieckowski

Methods Mol Biol 2015 ;1241:85-93

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

June 2015

[Cardiological manifestation of MELAS syndrome associated with mDNA mutation at position 3234].

Authors:

Agnieszka Pawlak Maciej Pronicki Katarzyna Iwanicka-Pronicka Jacek Kuśnierz Rafał Płoski Agnieszka Pollak Robert J Gil

Kardiol Pol 2014 ;72(1):83

Klinika Kardiologii Inwazyjnej, Centralny Szpital Kliniczny Ministerstwa Spraw Wewnętrznych, Warszawa.

View Article and Find Full Text PDF

July 2015

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Authors:

Maria Jędrzejowska Agnieszka Madej-Pilarczyk Anna Fidziańska Hanna Mierzewska Ewa Pronicka Ewa Obersztyn Monika Gos Maciej Pronicki Tomasz Kmieć Marek Migdał Magdalena Mierzewska-Schmidt Iwona Walczak-Wojtkowska Elżbieta Konopka Irena Hausmanowa-Petrusewicz

Eur J Paediatr Neurol 2014 Mar 15;18(2):183-92. Epub 2013 Dec 15.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

View Article and Find Full Text PDF

March 2014

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Authors:

Ewa Pronicka Dorota Piekutowska-Abramczuk Tamara Szymańska-Dębińska Liliana Bielecka Paweł Kowalski Sylwia Luczak Agnieszka Karkucińska-Więckowska Marek Migdał Jolanta Kubalska Janusz Zimowski Ewa Jamroz Jolanta Wierzba Jolanta Sykut-Cegielska Maciej Pronicki Jacek Zaremba Małgorzata Krajewska-Walasek

Mitochondrion 2013 Nov 26;13(6):810-6. Epub 2013 May 26.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

View Article and Find Full Text PDF

November 2013

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.

Authors:

Piotr Buda Anna Wieteska-Klimczak Janusz Ksiazyk Piotr Gietka Anna Smorczewska-Kiljan Maciej Pronicki Barbara Czartoryska Anna Tylki-Szymanska

JIMD Rep 2012 4;4:25-8. Epub 2011 Nov 4.

Department of Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

February 2013

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Authors:

Agnieszka Karkucinska-Wieckowska Joanna Trubicka Bozena Werner Katarzyna Kokoszynska Magdalena Pajdowska Maciej Pronicki Elzbieta Czarnowska Magdalena Lebiedzinska Jolanta Sykut-Cegielska Lidia Ziolkowska Weronika Jaron Anna Dobrzanska Elzbieta Ciara Mariusz R Wieckowski Ewa Pronicka

J Inherit Metab Dis 2013 Nov 30;36(6):929-37. Epub 2013 Jan 30.

Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

November 2013

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients.

Authors:

Magdalena Lebiedzinska Agnieszka Karkucinska-Wieckowska Aleksandra Wojtala Jan M Suski Gyorgy Szabadkai Grzegorz Wilczynski Jakub Wlodarczyk Catia V Diogo Paulo J Oliveira Jan Tauber Petr Ježek Maciej Pronicki Jerzy Duszynski Paolo Pinton Mariusz R Wieckowski

Int J Biochem Cell Biol 2013 Jan 31;45(1):141-50. Epub 2012 Jul 31.

Nencki Institute of Experimental Biology, Warsaw, Poland.

View Article and Find Full Text PDF

January 2013

Cardiac mitochondrial dysfunction during hyperglycemia--the role of oxidative stress and p66Shc signaling.

Authors:

Catia V Diogo Jan M Suski Magdalena Lebiedzinska Agnieszka Karkucinska-Wieckowska Aleksandra Wojtala Maciej Pronicki Jerzy Duszynski Paolo Pinton Piero Portincasa Paulo J Oliveira Mariusz R Wieckowski

Int J Biochem Cell Biol 2013 Jan 7;45(1):114-22. Epub 2012 Jul 7.

CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Portugal.

View Article and Find Full Text PDF

January 2013

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

Authors:

Dariusz M Lebensztejn Aldona Wierzbicka Piotr Socha Maciej Pronicki Elżbieta Skiba Irena Werpachowska Maciej Kaczmarski

Acta Biochim Pol 2011 3;58(4):563-6. Epub 2011 Dec 3.

Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Bialystok, Poland.

View Article and Find Full Text PDF

May 2012

p66Shc aging protein in control of fibroblasts cell fate.

Authors:

Jan M Suski Agnieszka Karkucinska-Wieckowska Magdalena Lebiedzinska Carlotta Giorgi Joanna Szczepanowska Gyorgy Szabadkai Jerzy Duszynski Maciej Pronicki Paolo Pinton Mariusz R Wieckowski

Int J Mol Sci 2011 22;12(8):5373-89. Epub 2011 Aug 22.

Department of Biochemistry, Nencki Institute of Experimental Biology, Warsaw 02-093, Poland; E-Mails: (J.M.S.); (M.L.); (J.S.); (J.D.).

View Article and Find Full Text PDF

January 2015

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

Authors:

Agnieszka Karkucinska-Wieckowska Magdalena Lebiedzinska Elżbieta Jurkiewicz Magdalena Pajdowska Joanna Trubicka Tamara Szymanska-Debinska Jan Suski Paolo Pinton Jerzy Duszynski Maciej Pronicki Mariusz R Wieckowski Ewa Pronicka

Folia Neuropathol 2011 ;49(1):56-63

Department of Pathology, Children’s Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

July 2011

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Authors:

Ewa Pronicka Anna Weglewska-Jurkiewicz Maciej Pronicki Jolanta Sykut-Cegielska Pawel Kowalski Magdalena Pajdowska Irena Jankowska Katarzyna Kotulska Piotr Kalicinski Joanna Jakobkiewicz-Banecka Grzegorz Wegrzyn

Med Sci Monit 2011 Apr;17(4):CR203-9

Department of Metabolic Diseases, Endocrinology and Diabetology, Children's Memorial Health Institute Warsaw, Poland.

View Article and Find Full Text PDF

April 2011

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

Authors:

Ewa Pronicka Anna Węglewska-Jurkiewicz Joanna Taybert Maciej Pronicki Tamara Szymańska-Dębińska Agnieszka Karkucińska-Więckowska Joanna Jakóbkiewicz-Banecka Paweł Kowalski Dorota Piekutowska-Abramczuk Magdalena Pajdowska Piotr Socha Jolanta Sykut-Cegielska Grzegorz Węgrzyn

J Appl Genet 2011 Feb 16;52(1):61-6. Epub 2010 Nov 16.

Department of Metabolic Diseases, Endocrinology and Diabetology, Children's Memorial Health Institute (CMHI), Aleja Dzieci Polskich 20, 04-730, Warsaw, Poland.

View Article and Find Full Text PDF

February 2011

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Authors:

Jolanta Sykut-Cegielska Wanda Gradowska Dorota Piekutowska-Abramczuk Brage S Andresen Rikke K J Olsen Mariusz Ołtarzewski Maciej Pronicki Magdalena Pajdowska Anna Bogdańska Ewa Jabłońska Barbara Radomyska Katarzyna Kuśmierska Małgorzata Krajewska-Walasek Niels Gregersen Ewa Pronicka

J Inherit Metab Dis 2011 Feb 20;34(1):185-95. Epub 2010 Nov 20.

Department of Metabolic Diseases, Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.

View Article and Find Full Text PDF

February 2011

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders.

Authors:

Magdalena Lebiedzinska Agnieszka Karkucinska-Wieckowska Carlotta Giorgi Elzbieta Karczmarewicz Ewa Pronicka Paolo Pinton Jerzy Duszynski Maciej Pronicki Mariusz R Wieckowski

Biochim Biophys Acta 2010 Jun-Jul;1797(6-7):952-60. Epub 2010 Mar 10.

Nencki Institute of Experimental Biology, Warsaw, Poland.

View Article and Find Full Text PDF

January 2011

Papillary ependymoma with unique superficial cortical location: immunohistochemical and ultrastructural studies. A case report.

Authors:

Wiesława Grajkowska Ewa Matyja Maciej Pronicki Paweł Daszkiewicz Marcin Roszkowski Danuta Perek Monika Drogosiewicz

Folia Neuropathol 2009 ;47(4):354-61

1Department of Pathology, The Children's Memorial Health Institute, Polish Academy of Sciences, 5 Pawinskiego Str., 02-106 Warsaw, Poland.

View Article and Find Full Text PDF

March 2010

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

Authors:

Maciej Pronicki Paweł Kowalski Dorota Piekutowska-Abramczuk Joanna Taybert Agnieszka Karkucinska-Wieckowska Tamara Szymanska-Debinska Elzbieta Karczmarewicz Magdalena Pajdowska Marek Migdal Bogumila Milewska-Bobula Jolanta Sykut-Cegielska Ewa Popowska

Eur J Paediatr Neurol 2010 May 29;14(3):253-60. Epub 2009 Oct 29.

Department of Pathology, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

View Article and Find Full Text PDF

May 2010

Ganglioglioma associated with alterations of NBN gene. A case report.

Authors:

Wiesława Grajkowska Dorota Piekutowska-Abramczuk Elzbieta Ciara Bozena Dembowska-Baginska Danuta Perek Marcin Roszkowski Pawel Daszkiewicz Ewa Matyja Maciej Pronicki Krystyna H Chrzanowska

Folia Neuropathol 2009 ;47(3):278-83

Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland.

View Article and Find Full Text PDF

November 2009

Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study.

Authors:

Ewa Matyja Maciej Pronicki Paweł Kowalski Elzbieta Czarnowska Joanna Taybert

Folia Neuropathol 2009 ;47(1):20-32

Department of Experimental and Clinical Neuropathology, M. Mossakowski Medical Research Centre, Polish Academy of Science, 5 Pawinskiego Str, 02-106 Warsaw, Poland.

View Article and Find Full Text PDF

May 2009