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Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders.
iScience. 2024 Feb 21;27(4):109293. doi: 10.1016/j.isci.2024.109293. eCollection 2024 Apr 19.
iScience. 2024.
PMID: 38495824
Free PMC article.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C.
Efthymiou S, et al. Among authors: ochenkowska k.
Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010.
Brain. 2024.
PMID: 38217872
Free PMC article.
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Zebrafish Is a Powerful Tool for Precision Medicine Approaches to Neurological Disorders.
Ochenkowska K, Herold A, Samarut É.
Ochenkowska K, et al.
Front Mol Neurosci. 2022 Jul 6;15:944693. doi: 10.3389/fnmol.2022.944693. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 35875659
Free PMC article.
Review.
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Assessment of the Preventive Effect of L-carnitine on Post-statin Muscle Damage in a Zebrafish Model.
Niedbalska-Tarnowska J, Ochenkowska K, Migocka-Patrzałek M, Dubińska-Magiera M.
Niedbalska-Tarnowska J, et al. Among authors: ochenkowska k.
Cells. 2022 Apr 11;11(8):1297. doi: 10.3390/cells11081297.
Cells. 2022.
PMID: 35455976
Free PMC article.
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