Search Results - Dagmara Kabzińska

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  1. 1
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes by M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova

    Published 2011
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  2. 2
    Genetic spectrum of hereditary neuropathies with onset in the first year of life

    Genetic spectrum of hereditary neuropathies with onset in the first year of life by Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

    Published 2011
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  3. 3
    Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

    Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation by Danique Beijer, Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven C. Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets

    Published 2021
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  4. 4
    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 by Ellen Cottenie, Andrzej Kochański, Albena Jordanova, Boglárka Bánsági, M. Zimoń, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milić Rašić, Jonathan Baets, Marina Bartsakoulia, Rafał Płoski, Paweł Teterycz, Miloš Nikolić, Rosaline C. M. Quinlivan, Matilde Laurá, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceição Bettencourt, E Chabrol, André Franke, Katja von Au, Markus B. Schilhabel, Dagmara Kabzińska, I Hausmanowa-Pétrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung‐Ok Choi, Rita Horváth, Ki-Wha Chung, Stephan Züchner, Davide Pareyson, Matthew B. Harms, Mary M. Reilly, Henry Houlden

    Published 2014
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