Kaminska A - Search Results

1

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Watts GD, et al. Among authors: kaminska a. Clin Genet. 2007 Nov;72(5):420-6. doi: 10.1111/j.1399-0004.2007.00887.x. Clin Genet. 2007. PMID: 17935506

2

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. Among authors: kaminska a. Neurol Neurochir Pol. 2009 Mar-Apr;43(2):113-20. Neurol Neurochir Pol. 2009. PMID: 19484687

3

Mitochondrial encephalomyopathy: towards diagnosis. A case report.

Gaweł M, Kierdaszuk B, Tońska K, Kaliszewska M, Kubiszewska J, Jamrozik Z, Bartnik E, Kwieciński H, Kamińska AM. Gaweł M, et al. Neurol Neurochir Pol. 2014 Jan-Feb;48(1):76-80. doi: 10.1016/j.pjnns.2013.09.003. Epub 2014 Jan 23. Neurol Neurochir Pol. 2014. PMID: 24636775

4

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.

5

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196

6

Mitochondrial cytopathies: clinical, morphological and genetic characteristics.

Kierdaszuk B, Jamrozik Z, Tońska K, Bartnik E, Kaliszewska M, Kamińska A, Kwieciński H. Kierdaszuk B, et al. Among authors: kaminska a. Neurol Neurochir Pol. 2009 May-Jun;43(3):216-27. Neurol Neurochir Pol. 2009. PMID: 19618304

7

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network; Nguyen HP. Metzger S, et al. PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013. PLoS One. 2013. PMID: 23894380 Free PMC article.

8

Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation.

Slawek J, Kierdaszuk B, Tonska K, Kodron A, Schinwelski M, Sitek EJ, Bartnik E, Kaminska A, Kwiecinski H. Slawek J, et al. Among authors: kaminska a. J Clin Pathol. 2012 Dec;65(12):1147-9. doi: 10.1136/jclinpath-2012-200778. Epub 2012 Aug 10. J Clin Pathol. 2012. PMID: 22888120 No abstract available.

9

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. Among authors: kaminska a. Folia Neuropathol. 2007;45(2):56-65. Folia Neuropathol. 2007. PMID: 17594595 Free article.

10

Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients.

Nadaj-Pakleza A, Lusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, Kamińska A. Nadaj-Pakleza A, et al. Among authors: kaminska a. Folia Morphol (Warsz). 2011 May;70(2):121-9. Folia Morphol (Warsz). 2011. PMID: 21630234

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

550 results

Search Page

Filters