Hausmanowa-Petrusewicz I - 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

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

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.

6

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

7

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

8

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

9

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.

Kabzińska D, Niemann A, Drac H, Huber N, Potulska-Chromik A, Hausmanowa-Petrusewicz I, Suter U, Kochański A. Kabzińska D, et al. Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2. Neurogenetics. 2011. PMID: 21365284

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

300 results

Search Page

Filters