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

Authors: Danique Beijer, Hong Joo Kim, Lin Guo, Kevin 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 Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets

Source: JCI Insight, Vol 6, Iss 14 (2021)

Subject Terms: Genetics, Neuroscience, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/47cf72fa59a4478a90634b78aa5718fd

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy

Authors: Dagmara Kabzińska, Hanna Mierzewska, Jan Senderek, Andrzej Kochański

Source: Folia Neuropathologica, Vol 54, Iss 3, Pp 273-281 (2016)

Subject Terms: Warburg syndrome, whole-exome sequencing, RAB3GAP1, Medicine

File Description: electronic resource

Relation: https://www.termedia.pl/Warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy,20,28390,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X

Access URL: https://doaj.org/article/3ad6252d3be74703a32931313006b46b

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

Authors: Anita Kaliszewicz, Ninel Panteleeva, Magdalena Żmuda-Baranowska, Karol Szawaryn, Izabella Olejniczak, Paweł Boniecki, Sergey D. Grebelnyi, Dagmara Kabzińska, Jerzy Romanowski, Rafał Maciaszek, Ewa B. Górska, Joanna Zawadzka-Sieradzka

Source: Biology, Vol 10, Iss 2, p 81 (2021)

Subject Terms: internal brooding, Urticina, Cribrinopsis, Arctic-boreal species, phylogenetic relationships, phylogeny, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2079-7737/10/2/81; https://doaj.org/toc/2079-7737

Access URL: https://doaj.org/article/5d896de72a2944538ddf1bb41da25e96

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

Authors: Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka

Source: PLoS ONE, Vol 12, Iss 1, p e0169999 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5226824?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/cfaefa1212b744a1b83eca09b8429cd1

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Analysis of the 5’ upstream regulatory sequence of the PMP22 gene in a group of Charcot-Marie-Tooth type 1A(CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) affected patients

Authors: Elena, Sinkiewicz-Darol, Dagmara, Kabzińska, Andrzej, Kochański

Source: In Pharmacological Reports November-December 2009 61(6):1250-1250

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