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1

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

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

Journal:

Archives of Medical Science

Année:

2018

Langue:

english

Fichier:

PDF, 475 KB

english, 2018

2

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

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,

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 206 KB

english, 2011

3

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

Karkucinska-Wieckowska, Agnieszka, Trubicka, Joanna, Werner, Bozena, Kokoszynska, Katarzyna, Pajdowska, Magdalena, Pronicki, Maciej, Czarnowska, Elzbieta, Lebiedzinska, Magdalena, Sykut-Cegielska, Jol

Journal:

Journal of Inherited Metabolic Disease

Année:

2013

Langue:

english

Fichier:

PDF, 392 KB

english, 2013

4

A new look at the shoulder anterior capsuloligamentous complex complementing the insertion of the subscapularis tendon—Anatomical, histological and ultrasound studies of the lesser tuberosity enthesis

Kordasiewicz, B., Kiciński, M., Pronicki, M., Małachowski, K., Brzozowska, M., Pomianowski, S.

Journal:

Annals of Anatomy - Anatomischer Anzeiger

Année:

2016

Langue:

english

Fichier:

PDF, 529 KB

english, 2016

5

[Handbook of Clinical Neurology] Wilson Disease Volume 142 || Wilson disease – liver pathology

Pronicki, Maciej

Année:

2017

Langue:

english

Fichier:

PDF, 6.27 MB

english, 2017

6

Pathogenesis of chronic constipation in a Polish group of paediatric patients – an attempt to create the optimal histopathological diagnostic protocol

Szymańska, Sylwia, Markiewicz-Kijewska, Malgorzata, Pyzlak, Michal, Wieckowska-Karkucinska, Agnieszka, Kalicinski, Piotr, Grajkowska, Wiesława, Pronicki, Maciej

Journal:

Gastroenterology Review

Année:

2019

Langue:

english

Fichier:

PDF, 83 KB

english, 2019

7

Fat and Sugar—A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

Simoes,, Janikiewicz,, Bauer,, Karkucinska-Wieckowska,, Kalinowski,, Dobrzyń,, Wolski,, Pronicki,, Zieniewicz,, Dobrzyń,, Krawczyk,, Zischka,, Wieckowski,, Potes,

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 773 KB

english, 2019

8

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

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-A

Journal:

Journal of Applied Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 142 KB

english, 2011

9

SURF1 missense mutations promote a mild Leigh phenotype

D Piekutowska-Abramczuk, M Magner, E Popowska, M Pronicki, E Karczmarewicz, J Sykut-Cegielska, T Kmiec, E Jurkiewicz, T Szymanska-Debinska, L Bielecka, M Krajewska-Walasek, K Vesela, J Zeman, E Pronic

Journal:

Clinical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 637 KB

english, 2009

10

Epstein–Barr virus DNA load in peripheral blood mononuclear cells and whole blood from pediatric transplant recipients

B. Kasztelewicz, I. Jankowska, J. Pawłowska, J. Teisseyre, R. Grenda, M. Pronicki, K. Dzierżanowska-Fangrat

Journal:

Transplant Infectious Disease

Année:

2011

Langue:

english

Fichier:

PDF, 244 KB

english, 2011

11

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates

E. Pronicka, D.H. Piekutowska-Abramczuk, E. Popowska, M. Pronicki, E. Karczmarewicz, Y. Sykut-Cegielskâ, J. Taybert

Journal:

Journal of Inherited Metabolic Disease

Année:

2001

Langue:

english

Fichier:

PDF, 71 KB

english, 2001

12

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

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

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2010

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2010

13

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

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

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2010

Langue:

english

Fichier:

PDF, 52 KB

english, 2010

14

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

Dorota Piekutowska-Abramczuk, Ewa Popowska, Maciej Pronicki, Elzbieta Karczmarewicz, Dorota Tylek-Lemanska, Jolanta Sykut-Cegielska, Tamara Szymanska-Dembinska, Liliana Bielecka, Malgorzata Krajewska-

Journal:

European Journal of Paediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 498 KB

english, 2009

15

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

Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Joanna Taybert, Agnieszka Karkucinska-Wieckowska, Tamara Szymanska-Debinska, Elzbieta Karczmarewicz, Magdalena Pajdowska, Marek Migdal, B

Journal:

European Journal of Paediatric Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 769 KB

english, 2010

16

The role of pediatric pathologist and neuropathologist in diagnosis of respiratory chain disorders in children

M. Pronicki, W. Grajkowska

Journal:

European Journal of Paediatric Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 45 KB

english, 2008

17

Type of desmin expression in cardiomyocytes – a good marker of heart failure development in idiopathic dilated cardiomyopathy

A. Pawlak, R. J. Gil, T. Kulawik, M. Pronicki, A. Karkucińska-Więckowska, T. Szymańska-Dębińska, K. Gil, N. Lagwinski, E. Czarnowska

Journal:

Journal of Internal Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 779 KB

english, 2012

18

Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease

Magdalena Wasniewska, Elzbieta Karczmarewicz, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Krzysztof Zabłocki, Ewa Popowska, Ewa Pronicka, Jerzy Duszyński

Journal:

Biochemical and Biophysical Research Communications

Année:

2001

Langue:

english

Fichier:

PDF, 80 KB

english, 2001

19

Paper # 77: Histhopathologic Findings in Partial Achilles Tendon Ruptures

Urszula Ewa Zdanowicz, Robert Jacek Smigielski, Maciej Pronicki, Michal Drwiega, Grzegorz Doroszewski

Journal:

Arthroscopy: The Journal of Arthroscopic & Related Surgery

Année:

2011

Langue:

english

Fichier:

PDF, 48 KB

english, 2011

20

Prevention of de Novo Hepatitis B Virus Infection by Vaccination and High Hepatitis B Surface Antibodies Level in Children Receiving Hepatitis B Virus Core Antibody-Positive Living Related Donor Liver: Case Reports

I. Jankowska, J. Pawłowska, M. Teisseyre, P. Kaliciński, A. Kamiński, P. Czubkowski, J. Cielecka-Kuszyk, P. Kluge, M. Pronicki, J. Socha

Journal:

Transplantation Proceedings

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

21

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Anna Lorenc, Jarosław Bryk, Paweł Golik, Jolanta Kupryjańczyk, Jerzy Ostrowski, Maciej Pronicki, Andrzej Semczuk, Małgorzata Szołkowska, Ewa Bartnik

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 108 KB

english, 2003

22

Cardiac mitochondrial dysfunction during hyperglycemia—The role of oxidative stress and p66Shc signaling

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

Journal:

The International Journal of Biochemistry & Cell Biology

Année:

2013

Langue:

english

Fichier:

PDF, 561 KB

english, 2013

23

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Piekutowska-Abramczuk, D., Pronicki, M., Strawa, K., Karkucińska-Więckowska, A., Szymańska-Dębińska, T., Fidziańska, A., Więckowski, M.R., Jurkiewicz, D., Ciara, E., Jankowska, I., Sykut-Cegielska, J.

Journal:

Clinical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 653 KB

english, 2014

24

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

Jędrzejowska, Maria, Madej-Pilarczyk, Agnieszka, Fidziańska, Anna, Mierzewska, Hanna, Pronicka, Ewa, Obersztyn, Ewa, Gos, Monika, Pronicki, Maciej, Kmieć, Tomasz, Migdał, Marek, Mierzewska-Schmidt, Ma

Journal:

European Journal of Paediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2014

25

Miopatia nitkowata u niemowlęcia – opis przypadku

Lipka, Bożena, Milewska-Bobula, Bogumiła, Karkowska, Barbara, Pronicki, Maciej, Czarnowska, Elżbieta, Ryniewicz, Barbara, Szwałkiewicz-Warowicka, Ewa, Cichowicz-Kostrzyńska, Magdalena

Journal:

Pediatria Polska

Année:

2007

Langue:

polish

Fichier:

PDF, 677 KB

polish, 2007

26

Wiotkość mięśniowa u niemowląt – wyzwanie diagnostyczne dla pediatry

Lipka, Bożena, Milewska-Bobula, Bogumiła, Dunin-Wąsowicz, Dorota, Sykut-Cegielska, Jolanta, Pronicka, Ewa, Pronicki, Maciej, Czarnowska, Elżbieta

Journal:

Pediatria Polska

Année:

2008

Langue:

polish

Fichier:

PDF, 363 KB

polish, 2008

27

Activation of the p66Shc pathway in mitochondria-related pathologies

Wojtala, Aleksandra, Lebiedzinska, Magdalena, Karkucinska-Wieckowska, Agnieszka, Pronicki, Maciej, Duszynski, Jerzy, Wieckowski, Mariusz R.

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

28

Leigh disease due to SCO2 mutations revealed at extended autopsy

Szymanska-Debinska, T., Karkucinska-Wieckowska, A., Piekutowska-Abramczuk, D., Jurkiewicz, E., Iwanicka-Pronicka, K., Rokicki, D., Pronicki, M.

Journal:

Journal of Clinical Pathology

Année:

2015

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2015

29

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

Łastowska, Maria, Jurkiewicz, Elżbieta, Trubicka, Joanna, Daszkiewicz, Paweł, Drogosiewicz, Monika, Malczyk, Katarzyna, Grajkowska, Wiesława, Matyja, Ewa, Cukrowska, Bożena, Pronicki, Maciej, Perek-Po

Journal:

Journal of Neuro-Oncology

Année:

2015

Langue:

english

Fichier:

PDF, 915 KB

english, 2015

30

Potential Value of C4d Capillary Deposition in Myocardial Biopsies and NTproBNP, hs CRP in Serum as Markers of Prognosis in Patients After Heart Transplantation

Zielinski, T., Sobieszczanska- Malek, M., Komuda, K., Karczmarz, M., Browarek, A., Grajkowska, W., Kluge, P., Pronicki, M., Szymanska, S., Parulski, A., Bekta, P., Karcz, M., Wisniewska, J., Rozanski,

Journal:

The Journal of Heart and Lung Transplantation

Année:

2015

Langue:

english

Fichier:

PDF, 52 KB

english, 2015

31

p66Shc Aging Protein in Control of Fibroblasts Cell Fate

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

Journal:

International Journal of Molecular Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 584 KB

english, 2011

32

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Böhm, Marek, Pronicka, Ewa, Karczmarewicz, Elżbieta, Pronicki, Maciej, Piekutowska-Abramczuk, Dorota, Sykut-Cegielska, Jolanta, Mierzewska, Hanna, Hansikova, Hana, Vesela, Katerina, Tesarova, Marketa,

Journal:

Pediatric Research

Année:

2006

Langue:

english

Fichier:

PDF, 186 KB

english, 2006

33

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Pronicki, M, Matyja, E, Piekutowska-Abramczuk, D, Szymanska-Debinska, T, Karkucinska-Wieckowska, A, Karczmarewicz, E, Grajkowska, W, Kmiec, T, Popowska, E, Sykut-Cegielska, J

Journal:

Journal of Clinical Pathology

Année:

2008

Langue:

english

Fichier:

PDF, 882 KB

english, 2008

34

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Kraj

Journal:

Molecular Genetics and Metabolism Reports

Année:

2016

Langue:

english

Fichier:

PDF, 1010 KB

english, 2016

35

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

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

Journal:

Italian Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2015

36

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

Grenda, Ryszard, Jarmużek, Wioletta, Rubik, Jacek, Migdał, Marek, Pronicki, Maciej

Journal:

Pediatric Transplantation

Année:

2015

Langue:

english

Fichier:

PDF, 393 KB

english, 2015

37

Lack of Impact of Presence of Positive C4d Staining in Capillaries in Myocardial Biopsies on Long-term Survival of Heart Transplant Patients

Zieliński, T., Sobieszczańska-Małek, M., Karczmarz, M., Komuda, K., Grajkowska, W., Pronicki, M., Szymańska, S., Kluge, P., Browarek, A., Bekta, P., Karcz, M., Parulski, A., Wójcik, A., Klisiewicz, A.

Journal:

Transplantation Proceedings

Année:

2016

Langue:

english

Fichier:

PDF, 439 KB

english, 2016

38

A novelTPM2gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej

Journal:

Journal of Applied Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 694 KB

english, 2017

39

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

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

Journal:

Folia Neuropathologica

Année:

2014

Langue:

english

Fichier:

PDF, 194 KB

english, 2014

40

Analiza wskazań do biopsji wątroby u dzieci w doświadczeniu referencyjnego ośrodka hepatologii dziecięcej

Janowski, Kamil, Pronicki, Maciej, Grajkowska, Wiesława, Kaliciński, Piotr, Socha, Piotr

Journal:

Pediatria Polska

Année:

2017

Langue:

polish

Fichier:

PDF, 855 KB

polish, 2017

41

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

Rokicki, Dariusz, Pajdowska, Magdalena, Trubicka, Joanna, Thong, Meow-Keong, Ciara, Elżbieta, Piekutowska-Abramczuk, Dorota, Pronicki, Maciej, Sikora, Roman, Haidar, Rijad, Ołtarzewski, Mariusz, Jabło

Journal:

Clinica Chimica Acta

Année:

2017

Langue:

english

Fichier:

PDF, 346 KB

english, 2017

42

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

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

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.84 MB

english, 2017

43

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

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

Journal:

Pediatrics & Neonatology

Année:

2017

Langue:

english

Fichier:

PDF, 657 KB

english, 2017

44

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

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

Journal:

Gastroenterology Review

Année:

2017

Langue:

english

Fichier:

PDF, 95 KB

english, 2017

45

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

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

Journal:

Folia Neuropathologica

Année:

2016

Langue:

english

Fichier:

PDF, 133 KB

english, 2016

46

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

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

Journal:

Folia Neuropathologica

Année:

2017

Langue:

english

Fichier:

PDF, 3.62 MB

english, 2017

47

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

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

Journal:

Gastroenterology Review

Année:

2016

Langue:

english

Fichier:

PDF, 92 KB

english, 2016

48

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

Trubicka, Joanna, Rydzanicz, Malgorzata, Filipek, Iwona, Iwanowski, Piotr, Grajkowska, Wieslawa, Pronicki, Maciej, Ploski, Rafal, Dembowska-Baginska, Bozenna, Lastowska, Maria

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 117 KB

english, 2018

49

Pathologic diagnosis of antibody-mediated rejection in endomyocardial biopsy after heart transplantation based on renewed International Society for Heart and Lung Transplantation criteria

Szymańska, Sylwia, Grajkowska, Wiesława, Pronicki, Maciej

Journal:

Polish Journal of Pathology

Année:

2014

Langue:

english

Fichier:

PDF, 314 KB

english, 2014

50

APRI as an indicator of advanced liver fibrosis in children with α 1 -antitrypsin deficiency

Bakuła, Agnieszka, Dądalski, Maciej, Socha, Piotr, Pronicki, Maciej

Journal:

Gastroenterology Review

Année:

2012

Langue:

polish

Fichier:

PDF, 91 KB

polish, 2012