Výsledky vyhledávání - "Tamara Szymanska-Debinska"

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

Autor: Janusz Książyk, Ewa Pronicka, Agnieszka Karkucinska-Wieckowska, Tamara Szymanska-Debinska, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Wolfgang Sperl, Maria Gizewska, Joanna Trubicka, Rafał Płoski, Johannes A. Mayr, Małgorzata Krajewska-Walasek, Elżbieta Ciara, Magdalena Pajdowska, M. Dudzińska, Maciej Pronicki, Paulina Halat

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 70-76 (2016)
Molecular Genetics and Metabolism Reports

Pyruvate dehydrogenase complex (PDHc) defect is a well-known cause of mitochondrial disorders (MD) with at least six responsible genes (PDHA1, PDHB, DLAT, DLD, PDHX, PDP1). The aim of this work was to assess the diagnostic value of biochemical method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047268bb947fb7cb65fec677d0bc5ab7

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Leigh disease due toSCO2mutations revealed at extended autopsy

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

Publikováno v: Journal of Clinical Pathology. 68:397-399

The purpose of this letter is to present the extended autopsy protocol that allowed for recognition of cytochrome oxidase (COX) deficiency post mortem and subsequent identification of SCO2 mutations in an infant who died without established cause. Mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8382ca8863edded704dc3b1fd3ecf95
https://doi.org/10.1136/jclinpath-2014-202606

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Novel c.191C>G (p.Pro64Arg)MPV17mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Autor: Mariusz R. Wieckowski, Rafał Płoski, Katarzyna Strawa, Tamara Szymanska-Debinska, A. Fidziańska, Elżbieta Ciara, Agnieszka Karkucinska-Wieckowska, Irena Jankowska, Jolanta Sykut-Cegielska, Małgorzata Krajewska-Walasek, Dorota Jurkiewicz, Ewa Pronicka, Maciej Pronicki, Dorota Piekutowska-Abramczuk

Publikováno v: Clinical Genetics. 85:573-577

This study reports clinical, biochemical and histopathological findings associated with a novel homozygous MPV17 mutation in four patients with mitochondrial depletion syndrome. The severe course of the disease, which started in the first weeks of li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8aeaf509217806bb5d7d6e54903e71e8
https://doi.org/10.1111/cge.12228

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

Autor: Maciej Pronicki, Agnieszka Pawlak, Katarzyna Gil, N Lagwinski, Agnieszka Karkucinska-Wieckowska, Robert J. Gil, Elżbieta Czarnowska, Tomasz Kulawik, Tamara Szymanska-Debinska

Publikováno v: Journal of Internal Medicine. 272:287-297

Pawlak A, Gil RJ, Kulawik T, Pronicki M, Karkucinska-Wieckowska A, Szymanska-Debinska T, Gil K, Lagwinski N, Czarnowska E (Central Clinical Hospital of Ministry of Internal Affairs and Administration, Warsaw; Mossakowski Medical Research Centre, Acad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef78209a6d95c845fe03a5e05b932a31
https://doi.org/10.1111/j.1365-2796.2012.02524.x

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

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

Publikováno v: European Journal of Paediatric Neurology. 14:253-260

Infants with deficiency of cytochrome c oxidase (COX) due to SCO2 mutations observed so far usually demonstrated early cardiomyopathy, encephalopathy and lactic acidosis. Milder spinal muscular atrophy-like (SMA-like) phenotype was also rarely report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6104f854ec62ff1d95c7ad01488833
https://doi.org/10.1016/j.ejpn.2009.09.008

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SURF1missense mutations promote a mild Leigh phenotype

Autor: Elzbieta Karczmarewicz, Tamara Szymanska-Debinska, Maciej Pronicki, Ewa Popowska, Małgorzata Krajewska-Walasek, Liliana Bielecka, Jolanta Sykut-Cegielska, Jiri Zeman, Dorota Piekutowska-Abramczuk, K Vesela, Ewa Pronicka, Elżbieta Jurkiewicz, Martin Magner, Tomasz Kmieć

Publikováno v: Clinical Genetics. 76:195-204

SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc6d515daa08cedea566d23a5976e8c
https://doi.org/10.1111/j.1399-0004.2009.01195.x

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

Autor: Ewa Matyja, Wiesława Grajkowska, Tomasz Kmieć, Jolanta Sykut-Cegielska, Elzbieta Karczmarewicz, Tamara Szymanska-Debinska, Agnieszka Karkucinska-Wieckowska, Ewa Popowska, Dorota Piekutowska-Abramczuk, Maciej Pronicki

Publikováno v: Journal of Clinical Pathology

Aims:Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity.SURF1gene mutations are among the most frequent causes of LS. Although deficiency of cytochromecoxidase (COX) is a typical feature o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d269bf8b999649b2669bdf93aa38b6
http://europepmc.org/articles/PMC2571978

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

Autor: Maciej Pronicki, Tamara Szymanska-Debinska, Dariusz Rokicki, Wiesława Grajkowska, Agnieszka Karkucinska-Wieckowska, Rafał Płoski, Sylwia Szymańska, Elżbieta Ciara

Publikováno v: Folia neuropathologica. 52(4)

Dysferlinopathies are rare disorders of muscle that present two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness. They are caused by mutations in the

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https://pubmed.ncbi.nlm.nih.gov/25574751

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

Autor: Tamara Szymanska-Debinska, Ewa Jamroz, Paweł Kowalski, Liliana Bielecka, Agnieszka Karkucinska-Wieckowska, Sylwia Łuczak, Jolanta Wierzba, Ewa Pronicka, Jolanta Sykut-Cegielska, Marek Migdał, Jolanta Kubalska, Janusz Zimowski, Małgorzata Krajewska-Walasek, Jacek Zaremba, Maciej Pronicki, Dorota Piekutowska-Abramczuk

Publikováno v: Mitochondrion. 13(6)

The aim of this study was to assess the natural history of the SCO2 deficiency in relation to the genotype in a cohort of 62 patients with SCO2 mutations (36 this study, 26 previous reports). A novel, milder phenotype (disease onset delayed until one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb1a16c34bc6e895df1186b7c7eb09b1
https://pubmed.ncbi.nlm.nih.gov/23719228

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