Kostera-Pruszczyk A - Search Results

1

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K. Kaliszewska M, et al. Hum Genet. 2015 Sep;134(9):951-66. doi: 10.1007/s00439-015-1578-x. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077851 Free PMC article.

2

Transient global amnesia - hippocampal lesions in magnetic resonance imaging.

Golenia A, Ferens A, Kolasa A, Ignatiuk A, Kostera-Pruszczyk A. Golenia A, et al. J Stroke Cerebrovasc Dis. 2023 Mar;32(3):106951. doi: 10.1016/j.jstrokecerebrovasdis.2022.106951. Epub 2022 Dec 22. J Stroke Cerebrovasc Dis. 2023. PMID: 36565520

3

Sympathetic skin response (SSR) in multiple sclerosis.

Zakrzewska-Pniewska B, Kamińska A, Kostera-Pruszczyk A. Zakrzewska-Pniewska B, et al. Neurol Neurochir Pol. 1996;30 Suppl 3:121-8. Neurol Neurochir Pol. 1996. PMID: 9153018

4

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.

Kostera-Pruszczyk A, Opuchlik A, Lugowska A, Nadaj A, Bojakowski J, Tylki-Szymanska A, Kaminska A. Kostera-Pruszczyk A, et al. Neuromuscul Disord. 2006 Apr;16(4):282-5. doi: 10.1016/j.nmd.2006.02.001. Epub 2006 Mar 13. Neuromuscul Disord. 2006. PMID: 16531044

5

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A. Pruszczyk P, et al. Int J Cardiol. 2007 Apr 25;117(2):244-53. doi: 10.1016/j.ijcard.2006.05.019. Epub 2006 Aug 4. Int J Cardiol. 2007. PMID: 16890305

6

Multi-minicore myopathy: a clinical and histopathological study of 17 cases.

Nadaj-Pakleza A, Fidziańska A, Ryniewicz B, Kostera-Pruszczyk A, Ferreiro A, Kwieciński H, Kamińska A. Nadaj-Pakleza A, et al. Folia Neuropathol. 2007;45(2):56-65. Folia Neuropathol. 2007. PMID: 17594595 Free article.

7

Lambert-Eaton myasthenic syndrome in childhood.

Kostera-Pruszczyk A, Ryniewicz B, Rowinska-Marcinska K, Dutkiewicz M, Kamińska A. Kostera-Pruszczyk A, et al. Eur J Paediatr Neurol. 2009 Mar;13(2):194-6. doi: 10.1016/j.ejpn.2008.03.006. Epub 2008 Jun 30. Eur J Paediatr Neurol. 2009. PMID: 18585938

8

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

9

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

10

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

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