Keyphrases
Leigh Syndrome
100%
Clinical Characteristics
100%
Steady State
40%
Phenotypic Spectrum
40%
Mitochondrial Translation
40%
Mitochondrial Respiratory Function
40%
First Month
20%
Mitochondrial Function
20%
Fibroblasts
20%
Compound Heterozygous mutation
20%
Dystonia
20%
Functional Consequences
20%
Protein Level
20%
Truncated Protein
20%
Frameshift
20%
Nystagmus
20%
Psychomotor Delay
20%
Human Disease
20%
Seizure
20%
Optic Atrophy
20%
Patient Fibroblasts
20%
RNA Sequencing (RNA-seq)
20%
Clinical Symptoms
20%
Neurologic
20%
Clinical Evidence
20%
Brain MRI
20%
Comprehensive Characterization
20%
Respiratory Insufficiency
20%
Feeding Difficulties
20%
Functional Complementation
20%
Neurological Abnormalities
20%
Thalamic
20%
High-resolution Respirometry
20%
Minigene Assay
20%
Optic Nerve Atrophy
20%
Mitochondrial Ribosome
20%
Pathogenic Effects
20%
Biochemistry, Genetics and Molecular Biology
Leigh's Disease
100%
Steady State
40%
Fibroblast
40%
Genetics
20%
Magnetic Resonance Imaging
20%
RNA Sequencing
20%
Wild Type
20%
Minigene
20%
RNA Processing
20%
Neuroscience
Leigh's Disease
100%
Fibroblast
40%
Dystonia
20%
Optic Nerve
20%
Mitochondrial Function
20%
Magnetic Resonance Imaging of Brain
20%
RNA-Seq
20%
Ribosome
20%
RNA Processing
20%