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Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
- Published in:
- Cell Death & Disease, 2022, v. 13, n. 2, p. 1, doi. 10.1038/s41419-022-04626-x
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- Article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
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- Neurogenetics, 2021, v. 22, n. 4, p. 347, doi. 10.1007/s10048-021-00667-0
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- Article
Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5951, doi. 10.3390/ijms24065951
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- Article
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9707, doi. 10.3390/ijms21249707
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- Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079
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- Article
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
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- Pharmaceutics, 2023, v. 15, n. 1, p. 267, doi. 10.3390/pharmaceutics15010267
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- Article
PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.
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- Pharmaceutics, 2023, v. 15, n. 1, p. 202, doi. 10.3390/pharmaceutics15010202
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- Article