Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

by Rzepnikowska, Weronika, Kaminska, Joanna, Kabzińska, Dagmara, Kochański, Andrzej
Published in Genes (Basel) (2020)

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

by KOTRUCHOW, KATARZYNA, KABZIŃSKA, DAGMARA, HAUSMANOWA-PETRUSEWICZ, IRENA, KOCHAŃSKI, ANDRZEJ
Published 2013

A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

by Rzepnikowska, Weronika, Kaminska, Joanna, Kabzińska, Dagmara, Binięda, Katarzyna, Kochański, Andrzej
Published in Int J Mol Sci (2020)

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

by Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej
Published in J Appl Genet (2016)

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network

by Binięda, Katarzyna, Rzepnikowska, Weronika, Kolakowski, Damian, Kaminska, Joanna, Szczepankiewicz, Andrzej Antoni, Nieznańska, Hanna, Kochański, Andrzej, Kabzińska, Dagmara
Published in Int J Mol Sci (2021)

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

by Beręsewicz, Małgorzata, Boratyńska-Jasińska, Anna, Charzewski, Łukasz, Kawalec, Maria, Kabzińska, Dagmara, Kochański, Andrzej, Krzyśko, Krystiana A., Zabłocka, Barbara
Published in PLoS One (2017)

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

by Sinkiewicz-Darol, Elena, Lacerda, Andressa Ferreira, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig R., Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Published in Neurogenetics (2014)

Phylogenetic Relatedness within the Internally Brooding Sea Anemones from the Arctic-Boreal Region

by Kaliszewicz, Anita, Panteleeva, Ninel, Żmuda-Baranowska, Magdalena, Szawaryn, Karol, Olejniczak, Izabella, Boniecki, Paweł, Grebelnyi, Sergey D., Kabzińska, Dagmara, Romanowski, Jerzy, Maciaszek, Rafał, Górska, Ewa B., Zawadzka-Sieradzka, Joanna
Published in Biology (Basel) (2021)

Genetic spectrum of hereditary neuropathies with onset in the first year of life

by Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimoń, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzińska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter
Published 2011

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

by Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry
Published in Am J Hum Genet (2014)

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

by Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela
Published in Neurology (2020)