Sort   by:  
 Page size 
UnknownCLN6-related continuum phenotype caused by aberrant splicing.
Not available
S-EPMC11803302 | biostudies-literature
UnknownInfantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Not available
S-EPMC1785320 | biostudies-literature
UnknownA De Novo <i>DNM1L</i> Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.
Not available
S-EPMC12467091 | biostudies-literature
UnknownAltered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Not available
S-EPMC3579397 | biostudies-literature
UnknownMitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
Not available
S-EPMC4356157 | biostudies-literature
UnknownBiallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Not available
S-EPMC5108486 | biostudies-literature
UnknownEthylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Not available
S-EPMC1181922 | biostudies-literature
UnknownNot only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Not available
S-EPMC5427524 | biostudies-literature
UnknownVariants in ATP5F1B are associated with dominantly inherited dystonia.
Not available
S-EPMC10316767 | biostudies-literature
UnknownBiallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
Not available
S-EPMC8946636 | biostudies-literature
Sort   by:  
 Page size