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Biorxiv : the Preprint Server for Biology|February 23, 2026
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severityOwen S Skinner, Maria Miranda, Fangcong Dong, et al.
The EMBO Journal|October 12, 2017
Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer diseaseMarta Pera, Delfina Larrea, Cristina Guardia-Laguarta, et al.
JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.
Lancet (London, England)|August 18, 2004
Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery, Salvatore DiMauro, Sara Shanske, et al.
Nature Genetics|November 5, 1999
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneL C Papadopoulou, C M Sue, M M Davidson, et al.
Biorxiv : the Preprint Server for Biology|December 15, 2025
Upregulation of MAM by C99 disrupts ACSL4 activity and phospholipid homeostasis in Alzheimer's disease modelsJ Montesinos, T D Yun, I D Salomón-Cruz, et al.
Nature Medicine|January 12, 2016
Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in miceSuzanne M Cloonan, Kimberly Glass, Maria E Laucho-Contreras, et al.
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