Pages that link to "Q72044484"
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The following pages link to A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis (Q72044484):
Displayed 50 items.
- Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 (Q24533603) (← links)
- Mitochondrial DNA disease-molecular insights and potential routes to a cure (Q27005350) (← links)
- Brain mechanisms of acoustic communication in humans and nonhuman primates: an evolutionary perspective (Q30010598) (← links)
- Thiamine transporter-2 deficiency: outcome and treatment monitoring (Q30832915) (← links)
- Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach. (Q31076462) (← links)
- Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype (Q33540911) (← links)
- Neonatal presentations of mitochondrial metabolic disorders (Q33637035) (← links)
- Dystonia: recent advances (Q33930959) (← links)
- Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase (Q33936361) (← links)
- Clinical mitochondrial genetics (Q33955376) (← links)
- Mitochondrial ATP synthase: architecture, function and pathology. (Q34211463) (← links)
- Human mitochondrial DNA diseases (Q34264417) (← links)
- Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan (Q34544668) (← links)
- Effect of structural modulation of polyphenolic compounds on the inhibition of Escherichia coli ATP synthase (Q35002406) (← links)
- Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features (Q35038630) (← links)
- The neurology of mitochondrial DNA disease. (Q35172406) (← links)
- Understanding structure, function, and mutations in the mitochondrial ATP synthase (Q35557164) (← links)
- Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations (Q35565985) (← links)
- Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system? (Q36317027) (← links)
- Mitochondrial disease--its impact, etiology, and pathology. (Q36707793) (← links)
- Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background (Q36957020) (← links)
- ATP synthase and the actions of inhibitors utilized to study its roles in human health, disease, and other scientific areas (Q36995302) (← links)
- Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. (Q37064168) (← links)
- Mitochondrial disease in pregnancy: a systematic review (Q37185909) (← links)
- Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography (Q39584736) (← links)
- Modification of spectral features by nonhuman primates (Q41152831) (← links)
- Mitochondrial DNA mutations and pathogenesis (Q41547371) (← links)
- Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy? (Q42360402) (← links)
- Mitochondrial DNA depletion in Leigh syndrome (Q42520192) (← links)
- A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome (Q43814298) (← links)
- Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects (Q45746327) (← links)
- A novel mtDNA C11777A mutation in Leigh syndrome (Q46667511) (← links)
- Mitochondrial encephalomyopathy in Drosophila. (Q47072041) (← links)
- Structural basis of proton translocation and force generation in mitochondrial ATP synthase (Q47133960) (← links)
- Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene (Q48183315) (← links)
- Infantile encephalopathy associated with the MELAS A3243G mutation (Q48194241) (← links)
- Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth (Q48209614) (← links)
- Phenotypic variability in a family with a mitochondrial DNA T8993C mutation (Q48341841) (← links)
- Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome (Q48446459) (← links)
- ATP Synthase Diseases of Mitochondrial Genetic Origin. (Q55355374) (← links)
- Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene (Q57588228) (← links)
- Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (Q57588450) (← links)
- The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli (Q60695086) (← links)
- Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias (Q64264933) (← links)
- Mitochondrial gene mutations (Q73563859) (← links)
- Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations (Q73912619) (← links)
- Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant (Q77779454) (← links)
- Mutation of the mitochrondrially encoded ATPase 6 gene modeled in the ATP synthase of Escherichia coli (Q77993742) (← links)
- Mitochondrial encephalomyopathies (Q82029875) (← links)
- Investigation of metabolic myopathies (Q82029889) (← links)