Keyphrases
Biallelic Variants
100%
Coenzyme Q10
100%
Distal Hereditary Motor Neuropathy (dHMN)
100%
COQ7
100%
Upper Motor Neuron Signs
100%
Fibroblasts
60%
Molecular Pathways
20%
Mitochondrial Dysfunction
20%
MET1
20%
Protein Instability
20%
Enzyme Function
20%
Founder Effect
20%
Clinical Outcomes
20%
Stem Cell-derived
20%
Biosynthetic Precursor
20%
Axonal Degeneration
20%
Mitochondrial Disease
20%
Potential Gains
20%
Mitochondrial Oxidative Phosphorylation
20%
Lipid Metabolism
20%
Mitochondrial Respiration
20%
Oxygen Consumption Rate
20%
Clinical Phenotype
20%
Cell Behavior
20%
Patient Fibroblasts
20%
Hydroxylase
20%
Primary Coenzyme Q10 Deficiency
20%
Brazil
20%
Motor Neuron
20%
Reactive Oxygen Species Homeostasis
20%
Multisystemic
20%
Protein Level
20%
Induced Pluripotent Stem Cells (iPSCs)
20%
High-performance Liquid Chromatography
20%
Neurofilament Light (NF-L)
20%
Mitochondria
20%
Disease Outcome
20%
Biochemistry, Genetics and Molecular Biology
Upper Motor Neuron
100%
Coenzyme Q10
100%
COQ7
100%
Fibroblast
80%
Anabolism
40%
Mitochondrial Disorder
40%
Mitochondrion
20%
Precursor
20%
Oxygen Consumption
20%
Induced Pluripotent Stem Cell
20%
Nerve Fiber Degeneration
20%
Homeostasis
20%
Oxygenase
20%
Founder Effect
20%
Enzyme
20%
High-Performance Liquid Chromatography
20%
Mitochondrial Respiration
20%
Cell Function
20%
Coenzyme Q10 Deficiency
20%
Motor Neuron
20%
Oxidative Phosphorylation
20%
Lipid Metabolism
20%
Neurofilament Light
20%