Showing 1 - 18 results of 18 for search 'Cezary Żekanowski', query time: 0.05s Refine Results
  1. 1
    Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency

    Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency by Katarzyna Gaweda-Walerych, Dawid Walerych, Mariusz Berdyński, Emanuele Buratti, Cezary Zekanowski

    Published 2021-05-01
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  2. 2
    Accumulation of Polyphenols and Associated Gene Expression in Hairy Roots of <i>Salvia viridis</i> Exposed to Methyl Jasmonate

    Accumulation of Polyphenols and Associated Gene Expression in Hairy Roots of <i>Salvia viridis</i> Exposed to Methyl Jasmonate by Izabela Grzegorczyk-Karolak, Marta Krzemińska, Renata Grąbkowska, Jan Gomulski, Cezary Żekanowski, Katarzyna Gaweda-Walerych

    Published 2024-01-01
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  3. 3
    Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome

    Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome by Natalia Szejko, Natalia Szejko, Jakub Piotr Fichna, Krzysztof Safranow, Tomasz Dziuba, Cezary Żekanowski, Piotr Janik

    Published 2020-03-01
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  4. 4
    Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer’s Disease Case

    Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer’s Diseas... by Michalina Wężyk, Mariusz Berdyński, Adam Figarski, Magdalena Skrzypczak, Krzysztof Ginalski, Marzena Zboch, Izabela Winkel, Cezary Żekanowski

    Published 2023-11-01
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  5. 5
    Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

    Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients by Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski

    Published 2018-07-01
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  6. 6
    Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population

    Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population by Jakub P. Fichna, Kinga Humińska-Lisowska, Krzysztof Safranow, Jakub G. Adamczyk, Paweł Cięszczyk, Cezary Żekanowski, Mariusz Berdyński

    Published 2021-06-01
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  7. 7
    Common <i>ALDH3A1</i> Gene Variant Associated with Keratoconus Risk in the Polish Population

    Common <i>ALDH3A1</i> Gene Variant Associated with Keratoconus Risk in the Polish Population by Mariusz Berdyński, Piotr Krawczyk, Krzysztof Safranow, Beata Borzemska, Jacek P. Szaflik, Karolina Nowakowska-Żawrocka, Cezary Żekanowski, Joanna Giebułtowicz

    Published 2021-12-01
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  8. 8
    SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

    SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity by Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski, Magdalena Kuźma-Kozakiewicz

    Published 2022-01-01
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  9. 9
    Mitochondrial Genome Variation in Polish Elite Athletes

    Mitochondrial Genome Variation in Polish Elite Athletes by Agnieszka Piotrowska-Nowak, Krzysztof Safranow, Jakub G. Adamczyk, Ireneusz Sołtyszewski, Paweł Cięszczyk, Katarzyna Tońska, Cezary Żekanowski, Beata Borzemska

    Published 2023-08-01
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  10. 10
    Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?

    Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes—Do They Contribute to Semantic Dementia Clinical Phenotype? by Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski

    Published 2021-11-01
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  11. 11
    Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients

    Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients by Anna Potulska-Chromik, Maria Jędrzejowska, Monika Gos, Edyta Rosiak, Biruta Kierdaszuk, Aleksandra Maruszak, Andrzej Opuchlik, Cezary Zekanowski, Jakub P. Fichna

    Published 2021-02-01
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  12. 12
    A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in <i>ATP7B</i>, <i>SETX</i>, <i>SORL1</i>, and <i>FOXP1</i> Genes

    A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in <i>ATP7B</i>, <i>SETX</i>, <i>SORL1</i>, and <i>FOXP1</i> Genes by Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Michał Schinwelski, Mariusz Siemiński, Jarosław Sławek, Cezary Zekanowski

    Published 2022-12-01
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  13. 13
    A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function.

    A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function. by Abhinaya Iyer, Nichole E Lapointe, Krzysztof Zielke, Mariusz Berdynski, Elmer Guzman, Anna Barczak, Małgorzata Chodakowska-Żebrowska, Maria Barcikowska, Stuart Feinstein, Cezary Zekanowski

    Published 2013-01-01
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  14. 14
    Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

    Two desmin gene mutations associated with myofibrillar myopathies in Polish families. by Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski

    Published 2014-01-01
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  15. 15
    Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

    Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports by Beata Pepłońska, Agata Piestrzynska-Kajtoch, Kinga Humińska-Lisowska, Jakub Grzegorz Adamczyk, Marcin Siewierski, Artur Gurgul, Agnieszka Fornal, Monika Michałowska-Sawczyn, Cezary Żekanowski, Paweł Cięszczyk, Mariusz Berdyński

    Published 2021-02-01
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  16. 16
    A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

    A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. by Emilia J Sitek, Ewa Narożańska, Beata Pepłońska, Sławomir Filipek, Anna Barczak, Maria Styczyńska, Krzysztof Mlynarczyk, Bogna Brockhuis, Erik Portelius, Dorota Religa, Maria Barcikowska, Jarosław Sławek, Cezary Żekanowski

    Published 2013-01-01
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  17. 17
    Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

    Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation by Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou

    Published 2023-11-01
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  18. 18
    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

    Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome by Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou

    Published 2023-02-01
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