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Items: 1 to 50 of 300

1.

Correlating motor unit morphology with bioelectrical activity - A simulation study.

Zalewska E, Hausmanowa-Petrusewicz I.

Clin Neurophysiol. 2018 Jan;129(1):271-279. doi: 10.1016/j.clinph.2017.11.003. Epub 2017 Nov 16.

PMID:
29223824
2.

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Sokołowska B, Madej-Pilarczyk A, Marchel M, Hausmanowa-Petrusewicz I.

Folia Neuropathol. 2017;55(3):193-198. doi: 10.5114/fn.2017.70483.

3.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
4.

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

Madej-Pilarczyk A, Niezgoda A, Janus M, Wojnicz R, Marchel M, Fidziańska A, Grajek S, Hausmanowa-Petrusewicz I.

J Appl Genet. 2017 Feb;58(1):87-91. doi: 10.1007/s13353-016-0365-2. Epub 2016 Sep 1.

5.

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.

Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.

6.

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.

Steckiewicz R, Stolarz P, Świętoń E, Madej-Pilarczyk A, Grabowski M, Marchel M, Pieniak M, Filipiak KJ, Hausmanowa-Petrusewicz I, Opolski G.

Kardiol Pol. 2016;74(6):576-83. doi: 10.5603/KP.a2015.0218. Epub 2015 Nov 17.

7.

Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy.

Madej-Pilarczyk A, Marchel M, Fidziańska A, Opolski G, Hausmanowa-Petrusewicz I.

Kardiol Pol. 2015;73(10):942. doi: 10.5603/KP.2015.0187. No abstract available.

8.

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

Dorobek M, Ryniewicz B, Kabzińska D, Fidziańska A, Styczyńska M, Hausmanowa-Petrusewicz I.

Genet Test Mol Biomarkers. 2015 Nov;19(11):637-40. doi: 10.1089/gtmb.2015.0131. Epub 2015 Oct 20.

PMID:
26484845
9.

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

Madej-Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa-Petrusewicz I.

Folia Neuropathol. 2015;53(3):270-4. doi: 10.5114/fn.2015.54428.

10.

Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz IM, Sokołowska B, Madej-Pilarczyk A, Marchel M, Hausmanowa-Petrusewicz I.

Kardiol Pol. 2015;73(5):360-5. doi: 10.5603/KP.a2014.0243. Epub 2015 Jan 7.

11.

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.

Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.

12.

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Sinkiewicz-Darol E, Lacerda AF, Kostera-Pruszczyk A, Potulska-Chromik A, Sokołowska B, Kabzińska D, Brunetti CR, Hausmanowa-Petrusewicz I, Kochański A.

Neurogenetics. 2015 Jan;16(1):27-32. doi: 10.1007/s10048-014-0426-9. Epub 2014 Oct 24.

13.

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.

Acta Biochim Pol. 2014;61(4):739-44. Epub 2014 Oct 22.

14.

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

Jędrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2014 Jul;24(7):617-23. doi: 10.1016/j.nmd.2014.04.003. Epub 2014 Apr 24.

PMID:
24844453
15.

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.

Acta Myol. 2013 Dec;32(3):166-9.

16.

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

Dorobek M, van der Maarel SM, Lemmers RJ, Ryniewicz B, Kabzińska D, Frants RR, Gawel M, Walecki J, Hausmanowa-Petrusewicz I.

J Child Neurol. 2015 Apr;30(5):580-7. doi: 10.1177/0883073814528281. Epub 2014 Apr 9.

PMID:
24717985
17.

Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD).

Niebroj-Dobosz I, Sokołowska B, Madej-Pilarczyk A, Marchel M, Hausmanowa-Petrusewicz I.

Int J Cardiol. 2014 May 1;173(2):324-5. doi: 10.1016/j.ijcard.2014.03.058. Epub 2014 Mar 17. No abstract available.

PMID:
24681014
18.

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I.

Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15.

PMID:
24388491
19.

Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?

Fidzianska A, Madej-Pilarczyk A, Hausmanowa-Petrusewicz I.

Clin Neuropathol. 2014 Jan-Feb;33(1):61-4. doi: 10.5414/NP300657.

PMID:
23924754
20.

Advances in basic and clinical research in laminopathies.

Politano L, Carboni N, Madej-Pilarczyk A, Marchel M, Nigro G, Fidziaóska A, Opolski G, Hausmanowa-Petrusewicz I.

Acta Myol. 2013 May;32(1):18-22. Review.

21.

Amyotrophic lateral sclerosis: a dying motor unit?

Piotrkiewicz M, Hausmanowa-Petrusewicz I.

Front Aging Neurosci. 2013 Mar 26;5:7. doi: 10.3389/fnagi.2013.00007. eCollection 2013. No abstract available.

22.

Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy.

Dorobek M, Szmidt-Sałkowska E, Rowińska-Marcińska K, Gaweł M, Hausmanowa-Petrusewicz I.

Neurol Neurochir Pol. 2013 Jan-Feb;47(1):8-17.

PMID:
23487289
23.

Motor unit potentials with satellites in dystrophinopathies.

Zalewska E, Szmidt-Salkowska E, Rowinska-Marcinska K, Kaminska A, Hausmanowa-Petrusewicz I.

J Electromyogr Kinesiol. 2013 Jun;23(3):580-6. doi: 10.1016/j.jelekin.2012.11.002. Epub 2013 Jan 28.

PMID:
23369874
24.

Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy.

Nigro G, Russo V, Rago A, Papa AA, Carbone N, Marchel M, Palladino A, Hausmanowa-Petrusewicz I, Russo MG, Politano L.

Kardiol Pol. 2012;70(11):1154-9.

PMID:
23180524
25.

A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis.

Zalewska E, Nandedkar SD, Hausmanowa-Petrusewicz I.

Med Biol Eng Comput. 2012 Dec;50(12):1309-14. doi: 10.1007/s11517-012-0965-x. Epub 2012 Oct 5.

26.

Simulation studies on the motor unit potentials with satellite components in amyotrophic lateral sclerosis and spinal muscle atrophy.

Zalewska E, Rowinska-Marcinska K, Gawel M, Hausmanowa-Petrusewicz I.

Muscle Nerve. 2012 Apr;45(4):514-21. doi: 10.1002/mus.22344.

PMID:
22431084
27.

Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I.

Scand J Clin Lab Invest. 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272.

PMID:
22077867
28.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.

Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13.

29.

Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I.

Clin Chim Acta. 2011 Aug 17;412(17-18):1533-8. doi: 10.1016/j.cca.2011.04.033. Epub 2011 May 5.

PMID:
21596026
30.

Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis.

Piotrkiewicz M, Hausmanowa-Petrusewicz I.

J Physiol. 2011 Jun 1;589(Pt 11):2745-54. doi: 10.1113/jphysiol.2011.204891. Epub 2011 Mar 28.

31.

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.

Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2.

PMID:
21365284
32.

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.

J Appl Genet. 2011 May;52(2):177-83. doi: 10.1007/s13353-010-0003-3. Epub 2010 Nov 3.

PMID:
21107784
33.

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.

Drac H, Madej-Pilarczyk A, Gospodarczyk-Szot K, Gaweł M, Kwieciński H, Hausmanowa-Petrusewicz I.

Neurol Neurochir Pol. 2010 May-Jun;44(3):291-6.

PMID:
20625965
34.

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

Kabzińska D, Sinkiewicz-Darol E, Hausmanowa-Petrusewicz I, Kochański A.

J Appl Genet. 2010;51(2):203-9. doi: 10.1007/BF03195729.

PMID:
20453308
35.

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.

Neurogenetics. 2010 Jul;11(3):357-66. doi: 10.1007/s10048-010-0237-6. Epub 2010 Mar 16.

PMID:
20232219
36.

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

Jedrzejowska M, Milewski M, Zimowski J, Zagozdzon P, Kostera-Pruszczyk A, Borkowska J, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.

Neuroepidemiology. 2010;34(3):152-7. doi: 10.1159/000275492. Epub 2010 Jan 15.

PMID:
20090376
37.

Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.

Hausmanowa-Petrusewicz I, Madej-Pilarczyk A, Marchel M, Opolski G.

Neurol Neurochir Pol. 2009 Sep-Oct;43(5):415-20.

PMID:
20054742
38.

Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.

Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I.

Acta Biochim Pol. 2009;56(4):717-22. Epub 2009 Dec 8.

39.

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

Madej-Pilarczyk A, Rosińska-Borkowska D, Rekawek J, Marchel M, Szaluś E, Jabłońska S, Hausmanowa-Petrusewicz I.

Am J Med Genet A. 2009 Nov;149A(11):2387-92. doi: 10.1002/ajmg.a.33018.

PMID:
19842191
40.

[Detection of rare mutations in the dystrophin gene].

Zimowski JG, Holding M, Fidziańska E, Fidziańska A, Ryniewicz B, Dobosz I, Hausmanowa-Petrusewicz I, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Andrzejczyk A, Zaremba J.

Med Wieku Rozwoj. 2009 Apr-Jun;13(2):140-5. Polish.

PMID:
19837995
41.

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.

Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.

Acta Biochim Pol. 2009;56(1):103-8. Epub 2009 Mar 14.

42.

Between Prohibition and taboo: should there be limits to scientific inquisitiveness?

Hausmanowa-Petrusewicz I.

Neurol Neurochir Pol. 2008 Nov-Dec;42(6):491-5, 495-6. English, Polish. No abstract available.

PMID:
19235101
43.

Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Marchel M, Madej A, Sokolowska B, Hausmanowa-Petrusewicz I.

Acta Myol. 2008 Jul;27:1-6.

44.

Approximation of motor unit structure from the analysis of motor unit potential.

Zalewska E, Hausmanowa-Petrusewicz I.

Clin Neurophysiol. 2008 Nov;119(11):2501-6. doi: 10.1016/j.clinph.2008.07.225. Epub 2008 Sep 10.

PMID:
18786859
45.

Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy.

Niebroj-Dobosz I, Dorobek M, Marchel M, Hausmanowa-Petrusewicz I.

Acta Myol. 2006 Oct;25(2):68-72.

PMID:
18593007
46.

Analysis of double discharges in amyotrophic lateral sclerosis.

Piotrkiewicz M, Kudina L, Mierzejewska J, Hausmanowa-Petrusewicz I.

Muscle Nerve. 2008 Jul;38(1):845-54. doi: 10.1002/mus.20997.

PMID:
18508341
47.

Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.

Fidziańska A, Bilińska ZT, Tesson F, Wagner T, Walski M, Grzybowski J, Ruzyłło W, Hausmanowa-Petrusewicz I.

J Neurol Sci. 2008 Aug 15;271(1-2):91-6. doi: 10.1016/j.jns.2008.03.017. Epub 2008 May 27.

PMID:
18502446
48.

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.

Acta Myol. 2007 Oct;26(2):108-11.

49.

Looking for disease being a model of human aging.

Hausmanowa-Petrusewicz I, Madej-Pilarczyk A.

Acta Myol. 2007 Oct;26(2):101-4. Review.

50.

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

Madej-Pilarczyk A, Kmieć T, Fidziańska A, Rekawek J, Niebrój-Dobosz I, Turska-Kmieć A, Nestorowicz K, Jóźwiak S, Hausmanowa-Petrusewicz I.

Eur J Paediatr Neurol. 2008 Sep;12(5):427-30. doi: 10.1016/j.ejpn.2007.11.011. Epub 2008 Mar 12.

PMID:
18339564

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