Kostera-Pruszczyk A - Search Results

1

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Lipowska M, Drac H, Rowczenio D, Gilbertson J, Hawkins PN, Lasek-Bal A, Szewczuk J, Grzybowski J, Gawor M, Stępień-Wojno M, Franaszczyk M, Brydak-Godowska J, Śmierciak R, Ptasińska-Perkowska A, Chandoga J, Petrovic R, Kostera-Pruszczyk A. Lipowska M, et al. Neurol Neurochir Pol. 2020;54(6):552-560. doi: 10.5603/PJNNS.a2020.0100. Epub 2020 Dec 29. Neurol Neurochir Pol. 2020. PMID: 33373035 Free article.

2

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. Neurol Neurochir Pol. 2005 Mar-Apr;39(2):89-94. Neurol Neurochir Pol. 2005. PMID: 15871052

3

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Neurology. 2006 Mar 14;66(5):745-7. doi: 10.1212/01.wnl.0000201269.46071.35. Neurology. 2006. PMID: 16534116

4

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

Nadaj-Pakleza A, Richard P, Lusakowska A, Gajewska J, Jamrozik Z, Kostera-Pruszczyk A, Kwieciński H, Kamińska A. Nadaj-Pakleza A, et al. Neurol Neurochir Pol. 2009 Mar-Apr;43(2):113-20. Neurol Neurochir Pol. 2009. PMID: 19484687

5

A single-fibre electromyography study of neuromuscular transmission in patients with cluster headache.

Domitrz I, Gaweł M, Domitrz W, Kostera-Pruszczyk A, Kwieciński H. Domitrz I, et al. Neurol Neurochir Pol. 2012 Mar-Apr;46(2):140-4. doi: 10.5114/ninp.2012.28256. Neurol Neurochir Pol. 2012. PMID: 22581595 Clinical Trial.

6

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Potulska-Chromik A, Kabzińska D, Lipowska M, Kostera-Pruszczyk A, Kochański A. Potulska-Chromik A, et al. Acta Biochim Pol. 2012;59(3):413-5. Epub 2012 Aug 21. Acta Biochim Pol. 2012. PMID: 22910560 Free article.

7

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

Potulska-Chromik A, Sinkiewicz-Darol E, Kostera-Pruszczyk A, Drac H, Kabzińska D, Zakrzewska-Pniewska B, Gołębiowski M, Kochański A. Potulska-Chromik A, et al. Folia Neuropathol. 2012;50(4):369-74. doi: 10.5114/fn.2012.32366. Folia Neuropathol. 2012. PMID: 23319192 Free article.

8

Carpal tunnel syndrome in children.

Potulska-Chromik A, Lipowska M, Gawel M, Ryniewicz B, Maj E, Kostera-Pruszczyk A. Potulska-Chromik A, et al. J Child Neurol. 2014 Feb;29(2):227-31. doi: 10.1177/0883073813504458. Epub 2013 Oct 1. J Child Neurol. 2014. PMID: 24084629

9

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, Kostera-Pruszczyk A. Potulska-Chromik A, et al. Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250. Epub 2014 Oct 30. Muscle Nerve. 2014. PMID: 24668782

10

Antititin antibody in early- and late-onset myasthenia gravis.

Szczudlik P, Szyluk B, Lipowska M, Ryniewicz B, Kubiszewska J, Dutkiewicz M, Gilhus NE, Kostera-Pruszczyk A. Szczudlik P, et al. Acta Neurol Scand. 2014 Oct;130(4):229-33. doi: 10.1111/ane.12271. Epub 2014 Jun 20. Acta Neurol Scand. 2014. PMID: 24947881

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