Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

por Rzepnikowska, Weronika, Kaminska, Joanna, Kabzińska, Dagmara, Kochański, Andrzej
Publicado 2020

The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?

por Kabzińska, Dagmara, Chabros, Katarzyna, Kamińska, Joanna, Kochański, Andrzej
Publicado 2022

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

por KOTRUCHOW, KATARZYNA, KABZIŃSKA, DAGMARA, HAUSMANOWA-PETRUSEWICZ, IRENA, KOCHAŃSKI, ANDRZEJ
Publicado 2013

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

por Rzepnikowska, Weronika, Kaminska, Joanna, Kabzińska, Dagmara, Binięda, Katarzyna, Kochański, Andrzej
Publicado 2020

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

por Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej
Publicado 2016

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

por Binięda, Katarzyna, Rzepnikowska, Weronika, Kolakowski, Damian, Kaminska, Joanna, Szczepankiewicz, Andrzej Antoni, Nieznańska, Hanna, Kochański, Andrzej, Kabzińska, Dagmara
Publicado 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

por Beręsewicz, Małgorzata, Boratyńska-Jasińska, Anna, Charzewski, Łukasz, Kawalec, Maria, Kabzińska, Dagmara, Kochański, Andrzej, Krzyśko, Krystiana A., Zabłocka, Barbara
Publicado 2017

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

por Sinkiewicz-Darol, Elena, Lacerda, Andressa Ferreira, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig R., Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Publicado 2014

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

por 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
Publicado 2021

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

por 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
Publicado 2011

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

por Beijer, Danique, Kim, Hong Joo, Guo, Lin, O’Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M., Drake, Lauren E., Ford, Alice F., Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Bonner, Devon, Sampson, Jacinda B., Wheeler, Matthew T., Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J. Paul, Baets, Jonathan
Publicado 2021