Redowicz MJ - Search Results

1

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ. Jarmula A, et al. Among authors: redowicz mj. Sci Rep. 2019 Aug 8;9(1):11533. doi: 10.1038/s41598-019-47849-3. Sci Rep. 2019. PMID: 31395899 Free PMC article.

2

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

Kierdaszuk B, Berdynski M, Karolczak J, Redowicz MJ, Zekanowski C, Kaminska AM. Kierdaszuk B, et al. Among authors: redowicz mj. Neuromuscul Disord. 2013 Mar;23(3):219-28. doi: 10.1016/j.nmd.2012.12.007. Epub 2013 Jan 30. Neuromuscul Disord. 2013. PMID: 23374900

3

Myosin VI localization and expression in striated muscle pathology.

Karolczak J, Weis S, Ehler E, Kierdaszuk B, Berdyński M, Zekanowski C, Kamińska AM, Rędowicz MJ. Karolczak J, et al. Among authors: redowicz mj. Anat Rec (Hoboken). 2014 Sep;297(9):1706-13. doi: 10.1002/ar.22967. Anat Rec (Hoboken). 2014. PMID: 25125183 Free article.

4

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C. Fichna JP, et al. Among authors: redowicz mj. PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014. PLoS One. 2014. PMID: 25541946 Free PMC article.

5

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

Kostera-Pruszczyk A, Suszek M, Płoski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kamińska AM, Rędowicz MJ. Kostera-Pruszczyk A, et al. Among authors: redowicz mj. J Muscle Res Cell Motil. 2015 Dec;36(6):423-32. doi: 10.1007/s10974-015-9431-3. Epub 2015 Nov 6. J Muscle Res Cell Motil. 2015. PMID: 26545904 Free PMC article.

6

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

Fichna JP, Potulska-Chromik A, Miszta P, Redowicz MJ, Kaminska AM, Zekanowski C, Filipek S. Fichna JP, et al. Among authors: redowicz mj. BBA Clin. 2016 Nov 11;7:1-7. doi: 10.1016/j.bbacli.2016.11.004. eCollection 2017 Jun. BBA Clin. 2016. PMID: 27904835 Free PMC article.

7

Liprin-α-1 is a novel component of the murine neuromuscular junction and is involved in the organization of the postsynaptic machinery.

Bernadzki KM, Gawor M, Pęziński M, Mazurek P, Niewiadomski P, Rędowicz MJ, Prószyński TJ. Bernadzki KM, et al. Among authors: redowicz mj. Sci Rep. 2017 Aug 22;7(1):9116. doi: 10.1038/s41598-017-09590-7. Sci Rep. 2017. PMID: 28831123 Free PMC article.

8

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C. Fichna JP, et al. Among authors: redowicz mj. Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1. Hum Genomics. 2018. PMID: 29970176 Free PMC article.

9

Formation of Aberrant Myotubes by Myoblasts Lacking Myosin VI Is Associated with Alterations in the Cytoskeleton Organization, Myoblast Adhesion and Fusion.

Lehka L, Topolewska M, Wojton D, Karatsai O, Alvarez-Suarez P, Pomorski P, Rędowicz MJ. Lehka L, et al. Among authors: redowicz mj. Cells. 2020 Jul 11;9(7):1673. doi: 10.3390/cells9071673. Cells. 2020. PMID: 32664530 Free PMC article.

10

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.

Macias A, Fichna JP, Topolewska M, Rȩdowicz MJ, Kaminska AM, Kostera-Pruszczyk A. Macias A, et al. Among authors: redowicz mj. Front Neurosci. 2021 Oct 14;15:692482. doi: 10.3389/fnins.2021.692482. eCollection 2021. Front Neurosci. 2021. PMID: 34720847 Free PMC article.

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