Potulska-Chromik A - Search Results

1

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczałuba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptáček LJ. Kostera-Pruszczyk A, et al. Muscle Nerve. 2015 Feb;51(2):192-6. doi: 10.1002/mus.24293. Epub 2014 Nov 19. Muscle Nerve. 2015. PMID: 24861851

2

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

3

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.

4

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

5

Long lasting dysautonomia due to botulinum toxin B poisoning: clinical-laboratory follow up and difficulties in initial diagnosis.

Potulska-Chromik A, Zakrzewska-Pniewska B, Szmidt-Sałkowska E, Lewandowski J, Siński M, Przyjałkowski W, Kostera-Pruszczyk A. Potulska-Chromik A, et al. BMC Res Notes. 2013 Oct 30;6:438. doi: 10.1186/1756-0500-6-438. BMC Res Notes. 2013. PMID: 24172031 Free PMC article.

6

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

7

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. Sinkiewicz-Darol E, et al. Neurogenetics. 2015 Jan;16(1):27-32. doi: 10.1007/s10048-014-0426-9. Epub 2014 Oct 24. Neurogenetics. 2015. PMID: 25342198 Free PMC article.

8

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R. Kostera-Pruszczyk A, et al. J Peripher Nerv Syst. 2014 Sep;19(3):242-5. doi: 10.1111/jns.12088. J Peripher Nerv Syst. 2014. PMID: 25403865

9

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C. Fichna JP, et al. PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014. PLoS One. 2014. PMID: 25541946 Free PMC article.

10

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

Kostera-Pruszczyk A, Suszek M, Płoski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kamińska AM, Rędowicz MJ. Kostera-Pruszczyk A, et al. J Muscle Res Cell Motil. 2015 Dec;36(6):423-32. doi: 10.1007/s10974-015-9431-3. Epub 2015 Nov 6. J Muscle Res Cell Motil. 2015. PMID: 26545904 Free PMC article.

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