Kabzińska D - Search Results

1

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A. Kabzińska D, et al. Acta Biochim Pol. 2014;61(4):739-44. Epub 2014 Oct 22. Acta Biochim Pol. 2014. PMID: 25337607

2

Somatic mosaicism in Charcot-Marie-Tooth type X disease.

Kochanski A, Nowakowski A, Kawulak M, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. Neurology. 2004 Jan 27;62(2):336-7. doi: 10.1212/01.wnl.0000103441.52563.02. Neurology. 2004. PMID: 14745088 No abstract available.

3

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. Neuromuscul Disord. 2004 Mar;14(3):229-32. doi: 10.1016/j.nmd.2003.12.001. Neuromuscul Disord. 2004. PMID: 15036333

4

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.

Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I. Kabzińska D, et al. Neuropediatrics. 2005 Jun;36(3):206-9. doi: 10.1055/s-2005-865606. Neuropediatrics. 2005. PMID: 15944907

5

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Neurology. 2006 Mar 14;66(5):745-7. doi: 10.1212/01.wnl.0000201269.46071.35. Neurology. 2006. PMID: 16534116

6

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Acta Myol. 2006 Jun;25(1):34-7. Acta Myol. 2006. PMID: 17039978

7

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.

Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Kabzinska D, et al. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. doi: 10.5414/npp27001. Clin Neuropathol. 2008. PMID: 18257469 Review.

8

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

Kabzińska D, Saifi GM, Drac H, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I, Kochański A, Lupski JR. Kabzińska D, et al. Acta Myol. 2007 Oct;26(2):108-11. Acta Myol. 2007. PMID: 18421898 Free PMC article.

9

Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).

Kabzinska D, Pierscinska J, Kochanski A. Kabzinska D, et al. J Appl Genet. 2009;50(3):283-8. doi: 10.1007/BF03195684. J Appl Genet. 2009. PMID: 19638685

10

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.

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