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

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Authors: Agnieszka Madej-Pilarczyk, Andrzej Kochański

Source: Folia Neuropathologica, Vol 54, Iss 1, Pp 1-8 (2016)

Subject Terms: Emery-Dreifuss muscular dystrophy, emerin, lamin A/C, laminopathy, LMNA gene, Medicine

File Description: electronic resource

Relation: https://www.termedia.pl/Emery-Dreifuss-muscular-dystrophy-the-most-recognizable-laminopathy,20,27225,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X

Access URL: https://doaj.org/article/4e73ed9fdb394bd8874ecc211a978dcb

The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders

Authors: Andrzej Kochański

Source: Family Medicine & Primary Care Review, Vol 17, Iss 4, Pp 319-322 (2015)

Subject Terms: Medicine

File Description: electronic resource

Relation: http://www.termedia.pl/The-impact-of-Professor-Irena-Hausmanowa-Petrusewicz-studies-r-non-the-development-of-genetics-of-neuromuscular-disorders,95,26243,1,1.html; https://doaj.org/toc/1734-3402; https://doaj.org/toc/2449-8580

Access URL: https://doaj.org/article/da1efe3a485945f6b10f794f3b412583

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

Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

Authors: Andrzej Kochański

Source: Studia Ecologiae et Bioethicae, Vol 12, Iss 1 (2014)

Subject Terms: poufność danych, determinizm genetyczny i kliniczny, dyskryminacja genetyczna, znaleziska przypadkowe, sekwencjonowanie eksomu, sekwencjonowanie genomu, Environmental sciences, GE1-350, Ecology, QH540-549.5, Philosophy (General), B1-5802

File Description: electronic resource

Relation: https://czasopisma.uksw.edu.pl/index.php/seb/article/view/3279; https://doaj.org/toc/1733-1218

Access URL: https://doaj.org/article/5985ce7191704d1fbcb0a773c2c2cdce

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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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