檢索結果 - M. Zimoń

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  1. 1
    Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

    Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy 由 Emil Ylikallio, Rosanna Pöyhönen, M. Zimoń, Els De Vriendt, Taru Hilander, Anders Paetau, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa

    出版 2013
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  2. 2
    Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

    Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance 由 Koen Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, M. Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanova

    出版 2013
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  3. 3
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

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

    出版 2011
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  4. 4
    Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

    Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies 由 M. Zimoń, Jonathan Baets, Michaela Auer‐Grumbach, José Berciano, Antonio Garcı́a, Eduardo López‐Laso, Luciano Merlini, David Hilton‐Jones, Meriel McEntagart, Andrew H. Crosby, Nina Barišić, Eugen Boltshauser, Christopher E. Shaw, Guida Landouré, Christy L. Ludlow, Rachelle Gaudet, Henry Houlden, Mary M. Reilly, Kenneth H. Fischbeck, Charlotte J. Sumner, Vincent Timmerman, Albena Jordanova, Peter De Jonghe

    出版 2010
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  5. 5
    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 由 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

    出版 2011
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  6. 6
    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 由 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

    出版 2014
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