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American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.Hepatology Communications|May 15, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in childrenJames E Squires, Alexander G Miethke, C Alexander Valencia, et al.Hepatology Communications|January 5, 2024
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseasesJohan L K Van Hove, Marisa W Friederich, Dana K Strode, et al.Brain : a Journal of Neurology|December 17, 2013
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Peter R Baker, Marisa W Friederich, Michael A Swanson, et al.Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.EMBO Molecular Medicine|August 26, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.Pageof 5