Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.
İpek R et al.
Neurogenetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
Serial cryoFIB/SEM Reveals Cytoarchitectural Disruptions in Leigh Syndrome Patient Cells.
Zhu Y et al.
Structure (london, England : 1993), 2021
Glucose-Induced Expression of DAPIT in Pancreatic β-Cells.
Leguina-Ruzzi A et al.
Biomolecules, 2020
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E et al.
Human Molecular Genetics, 2018
Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography.
Siegmund SE et al.
Iscience, 2018
Select a paper to view details