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A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
J Inherit Metab Dis. 2021 Mar;44(2):388-400. doi: 10.1002/jimd.12248. Epub 2020 Jun 24.
J Inherit Metab Dis. 2021.
PMID: 32383294
Free PMC article.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S.
Gunning AC, et al. Among authors: strucinska k.
Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30.
Am J Hum Genet. 2020.
PMID: 32004445
Free PMC article.
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Neuronal mitochondrial morphology is significantly affected by both fixative and oxygen level during perfusion.
Kim SY, Strucinska K, Osei B, Han K, Kwon SK, Lewis TL Jr.
Kim SY, et al. Among authors: strucinska k.
Front Mol Neurosci. 2022 Nov 2;15:1042616. doi: 10.3389/fnmol.2022.1042616. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 36407767
Free PMC article.
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STIM Protein-NMDA2 Receptor Interaction Decreases NMDA-Dependent Calcium Levels in Cortical Neurons.
Gruszczynska-Biegala J, Strucinska K, Maciag F, Majewski L, Sladowska M, Kuznicki J.
Gruszczynska-Biegala J, et al. Among authors: strucinska k.
Cells. 2020 Jan 9;9(1):160. doi: 10.3390/cells9010160.
Cells. 2020.
PMID: 31936514
Free PMC article.
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