T. Szymańska-Dębińska

发表

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

M. Pronicki, R. Gil, E. Czarnowska, 2012, Journal of internal medicine.

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

E. Jamroz, M. Pronicki, J. Wierzba, 2013, Mitochondrion.

Respiratory chain complexes in healthy and cardiomyopathic hearts

J. Korewicki, M. Pronicki, E. Pronicka, 2009 .

Are μ-opioid receptors involved in the control of endothelin-1 release from the pituitary gland in normal and dehydrated rats?

B. Baranowska, A. Płonowski, B. Woźniewicz, 1997, Regulatory Peptides.

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

M. Pronicki, D. Piekutowska-Abramczuk, J. Sykut-Cegielska, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Secondary respiratory chain dysfunction mimicking mitochondrial disorders - the role of skeletal muscle pathology in multidisciplinary diagnostic workout

M. Pronicki, H. Mierzewska, J. Sykut-Cegielska, 2007 .

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

G. Węgrzyn, M. Pronicki, P. Socha, 2010, Journal of Applied Genetics.

Assessment of respiratory chain function in cultured fibroblasts using cytochemistry, immunocytochemistry and SDS-PAGE

M. Pronicki, M. Wieckowski, D. Piekutowska-Abramczuk, 2008 .

Muscle histopathology in children with Leigh syndrome clinical phenotype and mutations in SURF1 gene

M. Pronicki, D. Piekutowska-Abramczuk, J. Sykut-Cegielska, 2003 .

Progress in Molecular Diagnosis and Treatment of Genetic Based Pediatric Malignancies

I. Jankowska, J. Cielecka-Kuszyk, P. Czubkowski, 2006 .

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

R. Płoski, M. Pronicki, J. Książyk, 2016, Molecular genetics and metabolism reports.

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

P. Pinton, M. Pronicki, M. Wieckowski, 2011, Folia neuropathologica.

SURF1 missense mutations promote a mild Leigh phenotype

M. Pronicki, J. Zeman, E. Pronicka, 2009, Clinical genetics.

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

W. Grajkowska, M. Pronicki, T. Kmieć, 2007, Journal of Clinical Pathology.

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

R. Płoski, M. Pronicki, M. Wieckowski, 2014, Clinical genetics.

Leigh disease due to SCO2 mutations revealed at extended autopsy

M. Pronicki, D. Rokicki, E. Jurkiewicz, 2015, Journal of Clinical Pathology.

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

M. Pronicki, M. Wieckowski, E. Ciara, 2014, Clinical genetics.