Hausmanowa-Petrusewicz I - Search Results

1

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

Kabzińska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochański A. Kabzińska D, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2196-9. doi: 10.1002/ajmg.a.31908. Am J Med Genet A. 2007. PMID: 17663472 No abstract available.

2

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I. Kochański A, et al. Eur J Paediatr Neurol. 2004;8(4):221-4. doi: 10.1016/j.ejpn.2004.04.001. Eur J Paediatr Neurol. 2004. PMID: 15261887

3

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.

Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I. Kabzińska D, et al. J Neurol Sci. 2006 Feb 15;241(1-2):7-11. doi: 10.1016/j.jns.2005.10.002. Epub 2005 Dec 15. J Neurol Sci. 2006. PMID: 16343542

4

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK. Kabzińska D, et al. J Peripher Nerv Syst. 2006 Sep;11(3):225-31. doi: 10.1111/j.1529-8027.2006.00092.x. J Peripher Nerv Syst. 2006. PMID: 16930284

5

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).

Jedrzejowska M, Ryniewicz B, Kabzińska D, Drac H, Hausmanowa-Petrusewicz I, Kochański A. Jedrzejowska M, et al. Neuromuscul Disord. 2008 Apr;18(4):339-41. doi: 10.1016/j.nmd.2008.02.001. Epub 2008 Mar 11. Neuromuscul Disord. 2008. PMID: 18337101

6

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H, Kabzińska D, Moszyńska I, Strugalska-Cynowska H, Hausmanowa-Petrusewicz I, Kochański A. Drac H, et al. J Appl Genet. 2011 May;52(2):177-83. doi: 10.1007/s13353-010-0003-3. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107784

7

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.

Kotruchow K, Kabzińska D, Hausmanowa-Petrusewicz I, Kochański A. Kotruchow K, et al. Acta Myol. 2013 Dec;32(3):166-9. Acta Myol. 2013. PMID: 24803844 Free PMC article.

8

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 Free article.

9

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.

10

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Kochański A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I. Kochański A, et al. Eur J Neurol. 2003 Sep;10(5):547-9. doi: 10.1046/j.1468-1331.2003.00640.x. Eur J Neurol. 2003. PMID: 12940837

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