Konstantina Fragaki
Nice, France
Last Updated: 09/26/2026
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Found 40 publications
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.
Journal: Mitochondrion
Published: June 23, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Journal: Annals of clinical and translational neurology
Published: February 26, 2024
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Journal: Mitochondrion
Published: July 10, 2022
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
Journal: European journal of medical genetics
Published: April 28, 2022
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Journal: Brain : a journal of neurology
Published: July 27, 2021
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.
Journal: Acta neuropathologica
Published: June 09, 2020
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.
Journal: Molecular genetics and metabolism reports
Published: September 09, 2019
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
Journal: Acta neuropathologica
Published: December 14, 2018
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Journal: Journal of human genetics
Published: October 14, 2018
GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors.
Journal: Cell metabolism
Published: September 21, 2018
Last Updated: 09/26/2026