Zimowski J - Search Results

1

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: zimowski j. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.

2

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Zimowski JG, Massalska D, Holding M, Jadczak S, Fidziańska E, Lusakowska A, Kostera-Pruszczyk A, Kamińska A, Zaremba J. Zimowski JG, et al. Neurol Neurochir Pol. 2014;48(6):416-22. doi: 10.1016/j.pjnns.2014.10.004. Epub 2014 Oct 24. Neurol Neurochir Pol. 2014. PMID: 25482253

3

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.

Hausmanowa-Petrusewicz I, Zaremba J, Fidziańska A, Zimowski J, Bisko M, Badurska B, Fidziańska E, Lusakowska A, Borkowska J. Hausmanowa-Petrusewicz I, et al. Among authors: zimowski j. Acta Neurobiol Exp (Wars). 1993;53(1):297-303. Acta Neurobiol Exp (Wars). 1993. PMID: 8317263 Free article.

4

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. Jędrzejowska M, et al. Neuromuscul Disord. 2014 Jul;24(7):617-23. doi: 10.1016/j.nmd.2014.04.003. Epub 2014 Apr 24. Neuromuscul Disord. 2014. PMID: 24844453

5

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy.

Lusakowska A, Jedrzejowska M, Kaminska A, Janiszewska K, Grochowski P, Zimowski J, Sierdzinski J, Kostera-Pruszczyk A. Lusakowska A, et al. Among authors: zimowski j. Orphanet J Rare Dis. 2021 Mar 24;16(1):150. doi: 10.1186/s13023-021-01771-y. Orphanet J Rare Dis. 2021. PMID: 33761963 Free PMC article.

6

[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. Zimowski JG, et al. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):140-5. Med Wieku Rozwoj. 2009. PMID: 19837995 Polish.

7

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].

Zimowski JG, Bisko M, Fidziańska E, Hausmanowa-Petrusewicz I, Badurska B, Borkowska J, Lusakowska A, Fidziańska A, Jezuita J, Zaremba J. Zimowski JG, et al. Neurol Neurochir Pol. 1993 Jul-Aug;27(4):469-78. Neurol Neurochir Pol. 1993. PMID: 8247234 Polish.

8

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

Jedrzejowska M, Wiszniewski W, Zimowski J, Kostera-Pruszczyk A, Ryniewicz B, Bal J, Zaremba J, Mazurczak T, Hausmanowa-Petrusewicz I. Jedrzejowska M, et al. Among authors: zimowski j. Neurol Neurochir Pol. 2005 Mar-Apr;39(2):89-94. Neurol Neurochir Pol. 2005. PMID: 15871052

9

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. Jedrzejowska M, et al. Among authors: zimowski j. Neuroepidemiology. 2010;34(3):152-7. doi: 10.1159/000275492. Epub 2010 Jan 15. Neuroepidemiology. 2010. PMID: 20090376

10

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. Jedrzejowska M, et al. Among authors: zimowski j. Acta Biochim Pol. 2009;56(1):103-8. Epub 2009 Mar 14. Acta Biochim Pol. 2009. PMID: 19287802 Free article.

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