Leigh Syndrome
What's New
Last Posted: May 13, 2024
- Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC).
Roselle Gélinas, et al. Frontiers in genetics 2024 0 1375467 - De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Theresa Brunet, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 0 101013 - Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Pin-Shiuan Chen, et al. Movement disorders : official journal of the Movement Disorder Society 2023 0 - Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol Denis, et al. International journal of molecular sciences 2023 0 (2) - Mutations in Complex I of the Mitochondrial Electron-Transport Chain Sensitize the Fruit Fly (Drosophila melanogaster) to Ether and Non-Ether Volatile Anesthetics.
Borchardt Luke A, et al. International journal of molecular sciences 2023 0 (3) - Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
Sofou Kalliopi, et al. Journal of medical genetics 2017 0 (1) 21-27 - A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Lou Xiaoting, et al. Journal of human genetics 2018 0 (12) 1269-1272 - Only pathogenic variants in protein-coding mtDNA genes cause Leigh syndrome.
Finsterer Josef, et al. Journal of the neurological sciences 2019 0 116447 - Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations.
Lee Sunho, et al. Frontiers in neurology 2019 0 496 - Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Alves Cesar A P F, et al. Annals of neurology 2020 0 (2) 218-232
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- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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