Výsledky vyhledávání - "Walentyna Szirkowiec"

High relative frequency of SCA1 in Poland reflecting a potential founder effect

Autor: Jacek Zaremba, Walentyna Szirkowiec, Wioletta Krysa, Maria Rakowicz, Anna Sulek

Publikováno v: Neurological Sciences

Spinocerebellar ataxias (SCAs) have irregular distributions worldwide. SCA1 is the most frequent in Poland, and no cases of SCA3 of Polish origin has yet been identified. In view of such patterns of SCAs occurrence, the relative frequency, geographic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1840110302c8c8e6a86c75aa904c71b
https://doi.org/10.1007/s10072-016-2594-x

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WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Autor: Anna Sulek, Anna Lusakowska, Wioletta Krysa, Marta Rajkiewicz, Anna Kaminska, Monika Nojszewska, Anna Kostera-Pruszczyk, Elzbieta Zdzienicka, Jolanta Kubalska, Maria Rakowicz, Walentyna Szirkowiec, Hubert Kwiecinski, Jacek Zaremba

Publikováno v: Neurologia i neurochirurgia polska.

The Publisher regrets that this article is an accidental duplication of an article that has already been published, 10.1016/j.pjnns.2018.02.008. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b840cb49431d5bdf7c5e63702a62c7f
https://pubmed.ncbi.nlm.nih.gov/29880430

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Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

Autor: Jacek Zaremba, Magdalena Pawelec, Walentyna Szirkowiec, Joanna K. Purzycka, Janusz Zimowski

Publikováno v: Journal of human genetics. 62(10)

Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5481d5edd43418d93054913531e73db
https://pubmed.ncbi.nlm.nih.gov/28680110

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Hereditary form of prion disease in Poland

Autor: Szpak Gm, Walentyna Szirkowiec, Wioletta Krysa, Jerzy Kulczycki, Janusz Zimowski, Jacek Zaremba, Wanda Łojkowska, Anna Limon-Sztencel

Publikováno v: Neurologia i Neurochirurgia Polska. 46:509-518

Background and purpose The aim of the study was to perform molecular analysis in a group of patients affected with prion disease. Diagnosis was based on results of clinical and/or histopathological examination of the brain. This is the largest invest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f625b471a43c69c6f2c80a1af9c7df1
https://doi.org/10.5114/ninp.2012.32353

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The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

Autor: Maria Rakowicz, Walentyna Szirkowiec, Jacek Zaremba, Elzbieta Zdzienicka, Wioletta Krysa, Marta Rajkiewicz, Anna Sułek-Piątkowska

Publikováno v: Neurologia i Neurochirurgia Polska. 44:238-245

Background and purpose Autosomal dominant spinocerebellar ataxias (SCAs) belong to a group of neurodegenerative disorders usually of adult age at onset. Predominant clinical features are progressive ataxia, dysarthria, as well as pyramidal signs and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ac4638bf4dcec0739322705cb4c845
https://doi.org/10.1016/s0028-3843(14)60037-2

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Paraoxonase 1 activity and level of antibodies directed against oxidized low density lipoproteins in a group of an elderly population in Poland - PolSenior study

Autor: Małgorzata Bednarska-Makaruk, Danuta Ryglewicz, Małgorzata Mossakowska, Tomasz Zdrojewski, Walentyna Szirkowiec, Monika Puzianowska-Kuźnicka, Hanna Wehr, Anna Skalska, Maria Rodo

Publikováno v: Archives of gerontology and geriatrics. 60(1)

The aim of this study was to assess two factors influencing the amount of oxidized LDL-paraoxonase 1 (PON1) activity and the level of anti-oxidized LDL antibodies (anti-ox LDL) in a large group of elderly individuals in Poland. The effects of cogniti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e2d28a99ab9fbe0373e1bce344b347
https://pubmed.ncbi.nlm.nih.gov/25459919

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Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease

Autor: Walentyna Szirkowiec, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Jerzy Bal, Andrzej Friedman, Piotr Janik, Jarosław Sławek

Publikováno v: Parkinsonism & Related Disorders. 16:136-138

Objective Mutations in the PARK2 ( Parkin ) gene result in an early-onset autosomal recessive form of Parkinson Disease (EO-PD). Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reporte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b1dfea6fe129e1d77de7a2aa06dfb3
https://doi.org/10.1016/j.parkreldis.2009.06.010

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Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

Autor: Marta, Rajkiewicz, Anna, Sułek-Piatkowska, Wioletta, Krysa, Elzbieta, Zdzienicka, Walentyna, Szirkowiec, Jacek, Zaremba

Publikováno v: Neurologia i neurochirurgia polska. 42(6)

The aim of this study was to determine the molecular basis of the disorder in patients suspected of spinocerebellar ataxias (SCAs) and search for premutation in the FMR1 gene causing FXTAS among patients in whom 9 SCA types were previously excluded.D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e59bbce267744886f38dcd60adfe0994
https://pubmed.ncbi.nlm.nih.gov/19235102

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