review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Dominic Thyagarajan | |
Edward Byrne | |||
P2860 | cites work | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome | Q22008460 |
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | Q22008476 | ||
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder | Q22008732 | ||
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
A unifying concept: the history of cell theory | Q22122311 | ||
Role of adenine nucleotide translocator 1 in mtDNA maintenance | Q22254737 | ||
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency | Q24308632 | ||
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease | Q24309083 | ||
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit | Q24309157 | ||
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness | Q24311730 | ||
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia | Q24540317 | ||
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study | Q24601956 | ||
INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. I. FIXATION AND ELECTRON STAINING REACTIONS | Q24683004 | ||
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease | Q27860459 | ||
Sequence and organization of the human mitochondrial genome | Q27860659 | ||
Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): evaluation by noninvasive tissue oximetry | Q74579034 | ||
RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS | Q76607062 | ||
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations | Q77740217 | ||
The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy | Q78059462 | ||
Mitochondria in the etiology and pathogenesis of parkinson's disease | Q104005597 | ||
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects | Q28143420 | ||
A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults. The Dichloroacetate-Lactic Acidosis Study Group | Q28202643 | ||
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? | Q28239999 | ||
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria | Q28245199 | ||
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder | Q28252466 | ||
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
An autosomal locus predisposing to deletions of mitochondrial DNA | Q28300006 | ||
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin | Q28301883 | ||
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome | Q28307882 | ||
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy | Q28322496 | ||
Exogenous coenzyme Q (coq) fails to increase coq in skeletal muscle of two patients with mitochondrial myopathies | Q28335432 | ||
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation | Q29614475 | ||
Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block | Q30053138 | ||
Origin and functional consequences of the complex I defect in Parkinson's disease | Q30469425 | ||
Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia | Q33540916 | ||
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder | Q33600939 | ||
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration | Q33629847 | ||
Coenzyme Q10 in health and disease | Q33771684 | ||
Recent advances and future developments in PGD. | Q33830561 | ||
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects | Q33832717 | ||
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects | Q33838022 | ||
Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation | Q33843176 | ||
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. | Q33864258 | ||
Recent advances in the molecular pathogenesis of Friedreich ataxia | Q33892619 | ||
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency | Q34388122 | ||
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 | Q34390017 | ||
Determinants of plasma coenzyme Q10 in humans | Q34756772 | ||
Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy | Q35115281 | ||
The fate of human sperm-derived mtDNA in somatic cells | Q35249690 | ||
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes | Q35250357 | ||
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene | Q35266591 | ||
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder | Q35575222 | ||
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy | Q35575407 | ||
Inhibition by valproic acid of pyruvate uptake by brain mitochondria | Q48955321 | ||
Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. | Q48958167 | ||
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy | Q48984980 | ||
Leigh syndrome: clinical features and biochemical and DNA abnormalities. | Q49107059 | ||
A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. | Q50513667 | ||
Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion. | Q50528281 | ||
Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. | Q50643739 | ||
In vivo assessment of human skeletal muscle mitochondria respiration in health and disease. | Q50932730 | ||
Genetic heterogeneity in Leigh syndrome. | Q51025660 | ||
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. | Q51413404 | ||
Reversal of a mitochondrial DNA defect in human skeletal muscle. | Q51540428 | ||
Inhalation anaesthesia and the Kearns-Sayre syndrome. | Q51624745 | ||
Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. | Q52003324 | ||
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. | Q54088093 | ||
Gene shifting: a novel therapy for mitochondrial myopathy. | Q54095861 | ||
Dichloroacetate in the treatment of lactic acidosis. | Q54128966 | ||
Short-term aerobic training response in chronic myopathies | Q57042649 | ||
Effects of aerobic training in patients with mitochondrial myopathies | Q57042769 | ||
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders | Q57043166 | ||
Late-onset mitochondrial myopathy | Q57043262 | ||
Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease | Q57043469 | ||
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency | Q57251902 | ||
Oxidative phosphorylation defect associated with primary adrenal insufficiency | Q57306600 | ||
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region | Q57588514 | ||
Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA | Q57848253 | ||
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies | Q59055292 | ||
Maternal inheritance of mammalian mitochondrial DNA | Q59078573 | ||
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency | Q60746562 | ||
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS | Q61797346 | ||
DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING | Q61874684 | ||
Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease | Q64796856 | ||
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion | Q67482157 | ||
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach | Q67912811 | ||
A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy | Q68030833 | ||
31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies | Q68150271 | ||
Mitochondrial dysfunction in multiple symmetrical lipomatosis | Q68246672 | ||
Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10 | Q68352956 | ||
Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies | Q68694871 | ||
Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR study | Q69335917 | ||
Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome | Q69498447 | ||
Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone | Q69640505 | ||
Mitochondrial myopathy and cardiomyopathy in siblings | Q69647475 | ||
Clinical improvement after administration of coenzyme Q10 in a patient with mitochondrial encephalomyopathy | Q69755914 | ||
Prolonged aerobic exercise: physiological studies in rat gastrocnemius with additional observations on the effects of acute mitochondrial blockade | Q69788381 | ||
Mitochondrial myopathies | Q69812514 | ||
Familial mitochondrial myopathy associated with peripheral neuropathy: partial deficiencies of complex I and complex IV | Q69848277 | ||
Treatment of Kearns-Sayre syndrome with coenzyme Q10 | Q69991702 | ||
Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study | Q70143531 | ||
The effects of valproate on intermediary metabolism in isolated rat hepatocytes and intact rats | Q70444106 | ||
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia | Q35603406 | ||
The Petite Mutation in Yeast | Q36005039 | ||
Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). | Q36189741 | ||
Peripheral neuropathy associated with mitochondrial myopathy | Q36425631 | ||
Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy | Q36852771 | ||
Mitochondrial toxicity of antiviral drugs | Q40429889 | ||
Mitochondrial DNA mutations in human degenerative diseases and aging | Q40437251 | ||
Mitochondrial diseases of muscle. | Q40558696 | ||
Treatment of mitochondrial disease | Q40898218 | ||
Peptide nucleic acid delivery to human mitochondria | Q40905811 | ||
Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease | Q41015571 | ||
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids | Q41131488 | ||
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome | Q41777128 | ||
Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol | Q41985182 | ||
Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium | Q42005317 | ||
Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus | Q42197214 | ||
Mitochondrial encephalomyopathy with corticosteroid dependence | Q42198296 | ||
Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine | Q42261338 | ||
Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case | Q42449142 | ||
HUMAN MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA. | Q42449412 | ||
Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q. | Q42638811 | ||
MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission | Q43447740 | ||
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome | Q43540511 | ||
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency | Q43569625 | ||
Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome | Q44097276 | ||
MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin | Q44244041 | ||
Mitochondrial DNA deletions in inherited recurrent myoglobinuria | Q44492514 | ||
Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction | Q44579221 | ||
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? | Q44622536 | ||
Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS. | Q44946882 | ||
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia | Q45031181 | ||
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness | Q46157086 | ||
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome | Q46963412 | ||
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome | Q47622391 | ||
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy | Q47979553 | ||
Improved brain and muscle mitochondrial respiration with CoQ. An in vivo study by 31P-MR spectroscopy in patients with mitochondrial cytopathies | Q48155006 | ||
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions | Q48161404 | ||
Molecular genetic characterization of an X-linked form of Leigh's syndrome | Q48270904 | ||
The clinical features of mitochondrial myopathy | Q48291336 | ||
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. | Q48351874 | ||
Respiratory chain failure in adult muscle fibres: relationship with ageing and possible implications for the neuronal pool | Q48439827 | ||
Magnetic resonance spectroscopy: use in monitoring MELAS treatment | Q48449766 | ||
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia | Q48451534 | ||
Effects of dichloroacetate in three patients with MELAS. | Q48522315 | ||
A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain | Q48599385 | ||
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome | Q48647985 | ||
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene | Q48649113 | ||
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. | Q48697072 | ||
Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies | Q70456967 | ||
Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy | Q70552833 | ||
Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy | Q70746780 | ||
Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome | Q70818901 | ||
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease | Q70894644 | ||
Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA | Q71023958 | ||
Inhibitory effects of sodium valproate on oxidative phosphorylation | Q71579315 | ||
Carnitine deficiency and hyperammonemia associated with valproic acid therapy | Q71624874 | ||
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis | Q71656694 | ||
Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) | Q71657315 | ||
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion | Q71761168 | ||
Mitochondrial inheritance in a mitochondrially mediated disease | Q71773887 | ||
The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study | Q71843071 | ||
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome | Q71925303 | ||
Contrasting histochemical features of various mitochondrial syndromes | Q71932421 | ||
Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features | Q71939979 | ||
Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy | Q72006057 | ||
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis | Q72044484 | ||
Nuclear expression of mitochondrial genes implicated in human encephalomyopathies | Q72114392 | ||
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy | Q72372563 | ||
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA | Q72437008 | ||
Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity | Q72489217 | ||
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin | Q72560397 | ||
Treatment of complex I deficiency with riboflavin | Q72576684 | ||
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome | Q72632067 | ||
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene | Q72856847 | ||
Rapid and noninvasive screening of patients with mitochondrial myopathy | Q72860652 | ||
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency | Q72863474 | ||
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA | Q73031929 | ||
Peripheral neuropathy in mitochondrial encephalomyopathies | Q73127089 | ||
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation | Q73187402 | ||
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA | Q73254846 | ||
Correction of pancreatic beta-cell dysfunction with coenzyme Q(10) in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome and diabetes mellitus | Q73281188 | ||
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes | Q73443115 | ||
Pearson marrow pancreas syndrome: a molecular study and clinical management | Q73486537 | ||
Mitochondrial DNA point mutation T9176C in Leigh syndrome | Q73488510 | ||
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease | Q73508536 | ||
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications | Q73558959 | ||
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA | Q73624602 | ||
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2 | Q73775066 | ||
Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome | Q73785209 | ||
A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies | Q73925198 | ||
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families | Q73998370 | ||
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses | Q74093688 | ||
Successful treatment by direct hemoperfusion of coma possibly resulting from mitochondrial dysfunction in acute valproate intoxication | Q74526036 | ||
P304 | page(s) | 93-144 | |
P577 | publication date | 2002-01-01 | |
P1433 | published in | International Review of Neurobiology | Q15754273 |
P1476 | title | Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features | |
P478 | volume | 53 |
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