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Page 1
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K. Kaliszewska M, et al. Among authors: kaminska a. Hum Genet. 2015 Sep;134(9):951-66. doi: 10.1007/s00439-015-1578-x. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077851 Free PMC article.
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: kaminska a. Mitochondrion. 2019 Jul;47:179-187. doi: 10.1016/j.mito.2018.11.004. Epub 2018 Nov 10. Mitochondrion. 2019. PMID: 30423451 Clinical Trial.
Mitochondrial encephalomyopathy: towards diagnosis. A case report.
Gaweł M, Kierdaszuk B, Tońska K, Kaliszewska M, Kubiszewska J, Jamrozik Z, Bartnik E, Kwieciński H, Kamińska AM. Gaweł M, et al. Neurol Neurochir Pol. 2014 Jan-Feb;48(1):76-80. doi: 10.1016/j.pjnns.2013.09.003. Epub 2014 Jan 23. Neurol Neurochir Pol. 2014. PMID: 24636775
Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J. Sulek A, et al. Among authors: kaminska a. Neurol Neurochir Pol. 2018 Nov-Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7. Neurol Neurochir Pol. 2018. PMID: 29588063
Screening for late-onset Pompe disease in Poland.
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A. Jastrzębska A, et al. Among authors: kaminska a. Acta Neurol Scand. 2019 Oct;140(4):239-243. doi: 10.1111/ane.13133. Epub 2019 Jun 18. Acta Neurol Scand. 2019. PMID: 31125121
Abnormal spontaneous activity in primary myopathic disorders.
Nojszewska M, Gawel M, Szmidt-Salkowska E, Kostera-Pruszczyk A, Potulska-Chromik A, Lusakowska A, Kierdaszuk B, Lipowska M, Macias A, Gawel D, Seroka A, Kaminska AM. Nojszewska M, et al. Among authors: kaminska am. Muscle Nerve. 2017 Sep;56(3):427-432. doi: 10.1002/mus.25521. Epub 2017 Jun 17. Muscle Nerve. 2017. PMID: 28000226
The needle EMG findings in myotonia congenita.
Nojszewska M, Lusakowska A, Gawel M, Sierdzinski J, Sulek A, Krysa W, Elert-Dobkowska E, Seroka A, Kaminska AM, Kostera-Pruszczyk A. Nojszewska M, et al. Among authors: kaminska am. J Electromyogr Kinesiol. 2019 Dec;49:102362. doi: 10.1016/j.jelekin.2019.102362. Epub 2019 Oct 3. J Electromyogr Kinesiol. 2019. PMID: 31610484 Free article.
549 results