mutation (13)
xanthomatosis, cerebrotendinous (12)
gtp phosphohydrolases (6)
optic atrophy, autosomal dominant (6)
cholestanetriol 26-monooxygenase (4)
gastrointestinal diseases (3)
genetic predisposition to disease (3)
lipid metabolism, inborn errors (3)
mitochondrial encephalomyopathies (3)
mutation, missense (3)
ophthalmoplegia, chronic progressive external (3)
central nervous system diseases (2)
deafness (2)
dna, mitochondrial (2)
dna-directed dna polymerase (2)
family health (2)
introns (2)
leukoencephalopathies (2)
mitochondrial diseases (2)
muscle, skeletal (2)
neurodegenerative diseases (2)
parkinsonian disorders (2)
point mutation (2)
rna, transfer, ser (2)
alopecia (1)
alu elements (1)
alzheimer disease (1)
apoptosis (1)
ataxia (1)
brain diseases (1)
cadasil (1)
cardiomyopathy, hypertrophic (1)
cerebellar diseases (1)
cerebellum (1)
cerebral infarction (1)
cerebral small vessel diseases (1)
chenodeoxycholic acid (1)
cholecalciferol (1)
cholesterol (1)
cocaine (1)
codon, nonsense (1)
disease susceptibility (1)
dna helicases (1)
electroconvulsive therapy (1)
electron transport complex i (1)
evoked potentials, motor (1)
fluorodeoxyglucose f18 (1)
gene frequency (1)
hearing loss (1)
hearing loss, central (1)