Milewski M - Search Results

1

Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.

Szczaluba K, Jurek M, Milewski M, Friedman A, Kadziolka B, Szolna A, Bal J, Mazurczak T. Szczaluba K, et al. Among authors: milewski m. Eur J Neurol. 2007 Jun;14(6):659-62. doi: 10.1111/j.1468-1331.2007.01811.x. Eur J Neurol. 2007. PMID: 17539945

2

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Szczałuba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J, Mazurczak T. Szczałuba K, et al. Among authors: milewski m. Pediatr Neurol. 2009 Aug;41(2):135-8. doi: 10.1016/j.pediatrneurol.2009.02.013. Pediatr Neurol. 2009. PMID: 19589464

3

The mutation responsible for torsion dystonia type 1 shows the ability to stimulate intracellular aggregation of mutant huntingtin.

Jurek M, Obersztyn E, Milewski M. Jurek M, et al. Among authors: milewski m. Dev Period Med. 2018;22(1):33-38. doi: 10.34763/devperiodmed.20182201.3338. Dev Period Med. 2018. PMID: 29641419 Free PMC article.

4

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

Mazurczak T, Bocian E, Milewski M, Obersztyn E, Stańczak H, Bal J, Szamotulska K, Karwacki MW. Mazurczak T, et al. Among authors: milewski m. Am J Med Genet. 1996 Jul 12;64(1):184-6. doi: 10.1002/(SICI)1096-8628(19960712)64:1<184::AID-AJMG32>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826472

5

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

Milewski M, Zygulska M, Bal J, Deelen WH, Obersztyn E, Bocian E, Halley DJ, Horst J, Mazurczak T. Milewski M, et al. Acta Biochim Pol. 1996;43(2):383-8. Acta Biochim Pol. 1996. PMID: 8862184

6

[Molecular pathogenesis of fragile X syndrome].

Sielska D, Milewski M, Bal J. Sielska D, et al. Among authors: milewski m. Med Wieku Rozwoj. 2002 Oct-Dec;6(4):295-308. Med Wieku Rozwoj. 2002. PMID: 12810982 Review. Polish.

7

[Torsin 1A and the pathomechanism of torsion dystonia type 1].

Jurek M, Milewski M. Jurek M, et al. Among authors: milewski m. Postepy Biochem. 2015;61(1):35-41. Postepy Biochem. 2015. PMID: 26281352 Review. Polish.

8

Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.

Milewski M, Gawliński P, Bąk D, Matysiak A, Bal J. Milewski M, et al. Eur J Cell Biol. 2015 May;94(5):179-89. doi: 10.1016/j.ejcb.2015.02.001. Epub 2015 Feb 20. Eur J Cell Biol. 2015. PMID: 25773959

9

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J. Rzońca SO, et al. Among authors: milewski m. Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059. Genes (Basel). 2016. PMID: 27598204 Free PMC article.

10

Unaffected patients with a homozygous absence of the SMN1 gene.

Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I. Jedrzejowska M, et al. Among authors: milewski m. Eur J Hum Genet. 2008 Aug;16(8):930-4. doi: 10.1038/ejhg.2008.41. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337729

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