Kabzińska D - Search Results

1

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

Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. Beijer D, et al. Among authors: kabzinska d. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363. JCI Insight. 2021. PMID: 34291734 Free PMC article.

2

Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.

Kotruchow K, Kabzińska D, Kochański A. Kotruchow K, et al. Among authors: kabzinska d. Acta Neurobiol Exp (Wars). 2015;75(3):264-78. doi: 10.55782/ane-2015-2033. Acta Neurobiol Exp (Wars). 2015. PMID: 26581383 Free article.

3

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.

Rzepnikowska W, Kaminska J, Kabzińska D, Kochański A. Rzepnikowska W, et al. Among authors: kabzinska d. Genes (Basel). 2020 Mar 14;11(3):310. doi: 10.3390/genes11030310. Genes (Basel). 2020. PMID: 32183277 Free PMC article.

4

Molecular genetic analysis of the GJB1 gene: a study of six mutations.

Kochański A, Kabzińska D. Kochański A, et al. Among authors: kabzinska d. J Appl Genet. 2004;45(1):95-100. J Appl Genet. 2004. PMID: 14960772

5

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.

Kabzińska D, Kotruchow K, Ryniewicz B, Kochański A. Kabzińska D, et al. Acta Biochim Pol. 2011;58(3):359-63. Epub 2011 Sep 14. Acta Biochim Pol. 2011. PMID: 21918739

6

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.

Mroczek M, Kabzińska D, Kochański A. Mroczek M, et al. Among authors: kabzinska d. Acta Neurobiol Exp (Wars). 2015;75(2):126-43. doi: 10.55782/ane-2015-2023. Acta Neurobiol Exp (Wars). 2015. PMID: 26232991 Free article. Review.

7

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Moszyńka I, Kabzińska D, Kochański A. Moszyńka I, et al. Among authors: kabzinska d. Acta Myol. 2009 Oct;28(2):72-5. Acta Myol. 2009. PMID: 20128140 Free PMC article.

8

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.

Kochański A, Kabzińska D. Kochański A, et al. Among authors: kabzinska d. Acta Biochim Pol. 2004;51(4):1047-50. Acta Biochim Pol. 2004. PMID: 15625576

9

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

Moszyńska I, Kabzińska D, Sinkiewicz-Darol E, Kochański A. Moszyńska I, et al. Among authors: kabzinska d. Acta Biochim Pol. 2009;56(4):627-30. Epub 2009 Oct 15. Acta Biochim Pol. 2009. PMID: 19830275

10

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.

Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, Jordanova A, Hausmanowa-Petrusewicz I, Kochański A. Kabzińska D, et al. Neurogenetics. 2010 Jul;11(3):357-66. doi: 10.1007/s10048-010-0237-6. Epub 2010 Mar 16. Neurogenetics. 2010. PMID: 20232219

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