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 | A3243G - A Brief History of Mitochondria | 4,308 |
| A3243G - Abstract -
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
| 88 |
| A3243G - Abstract - [A case of MELAS presenting complex partial status epilepticus] | 74 |
| A3243G - Abstract - [A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA] | 128 |
| A3243G - Abstract - [A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)] | 77 |
| A3243G - Abstract - [A sensitive fluorescent assay for the detection and quantification of mitochondrial 3243 mutation]
| 57 |
| A3243G - Abstract - [Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients]
| 63 |
| A3243G - Abstract - [Cardiomyopathy showing progression from diffuse left ventricular hypertrophy to dilated phase associated with mitochondrial DNA point mutation A3243G: A case report]
| 90 |
| A3243G - Abstract - [Clinical characterizations of familial diabetes mellitus associated with mitochondrial gene mutation] | 64 |
| A3243G - Abstract - [Detection of a mutation in mitochondrial DNA in a family with sensorineural deafness and diabetes mellitus as the predominant clinical features]
| 145 |
| A3243G - Abstract - [Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case] | 119 |
| A3243G - Abstract - [Dichloroacetate treatment for adult patients with mitochondrial disease]
| 241 |
| A3243G - Abstract - [Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics]
| 67 |
| A3243G - Abstract - [From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)] | 64 |
| A3243G - Abstract - [Intestinal pseudoobstructions and gastric necrosis in mitochondrial myopathy]
| 91 |
| A3243G - Abstract - [MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data]
| 76 |
| A3243G - Abstract - [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome]
| 209 |
| A3243G - Abstract - [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA]
| 79 |
| A3243G - Abstract - [Mitochondrial encephalomyopathies: 3243 mutation as a central matter]
| 127 |
| A3243G - Abstract - [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications]
| 95 |
| A3243G - Abstract - [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA] | 72 |
| A3243G - Abstract - [Molecular diagnosis of mitochondrial disorders] | 73 |
| A3243G - Abstract - [Molecular studies in Cuban patients with progressive external ophthalmoplegia]
| 58 |
| A3243G - Abstract - [The research progress of the association of mitochondrial DNA mutation with cardiomyopathy]
| 63 |
| A3243G - Abstract - A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness.
| 67 |
| A3243G - Abstract - A case of diabetic amyotrophy associated with 3243 mitochondrial tRNA(leu; UUR) mutation and successful therapy with coenzyme Q10.
| 138 |
| A3243G - Abstract - A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. | 157 |
| A3243G - Abstract - A False-Positive Diagnosis for the Common MELAS (A3243G) Mutation Caused by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA. | 115 |
| A3243G - Abstract - A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
| 179 |
| A3243G - Abstract - A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). | 76 |
| A3243G - Abstract - A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
| 71 |
| A3243G - Abstract - A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
| 75 |
| A3243G - Abstract - A review of cochlear implantation in mitochondrial sensorineural hearing loss. | 103 |
| A3243G - Abstract - A specific point mutation in the mitochondrial genome of Caucasians with MELAS. | 66 |
| A3243G - Abstract - A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort.
| 141 |
| A3243G - Abstract - A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. | 71 |
| A3243G - Abstract - A tRNA suppressor mutation in human mitochondria.
| 129 |
| A3243G - Abstract - Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. | 56 |
| A3243G - Abstract - Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
| 179 |
| A3243G - Abstract - Advanced telomere shortening in respiratory chain disorders. | 62 |
| A3243G - Abstract - An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.
| 57 |
| A3243G - Abstract - An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. | 63 |
| A3243G - Abstract - Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance.
| 62 |
| A3243G - Abstract - Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. | 59 |
| A3243G - Abstract - Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA. | 59 |
| A3243G - Abstract - Barth''s syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
| 95 |
| A3243G - Abstract - Can mitochondrial DNA mutations cause sperm dysfunction?
| 80 |
| A3243G - Abstract - Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.
| 72 |
| A3243G - Abstract - Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.
| 60 |
| A3243G - Abstract - Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.
| 92 |
| A3243G - Abstract - Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. | 61 |
| A3243G - Abstract - Cochlear origin of hearing loss in MELAS syndrome. | 80 |
| A3243G - Abstract - Comparative bioavailability of two novel coenzyme Q10 preparations in humans. | 210 |
| A3243G - Abstract - Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
| 107 |
| A3243G - Abstract - Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies.
| 59 |
| A3243G - Abstract - Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
| 62 |
| A3243G - Abstract - Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
| 73 |
| A3243G - Abstract - De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring.
| 66 |
| A3243G - Abstract - Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
| 67 |
| A3243G - Abstract - Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
| 74 |
| A3243G - Abstract - Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. | 81 |
| A3243G - Abstract - Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA.
| 86 |
| A3243G - Abstract - Detection and quantification of the A3243G mutation of mitochondrial DNA by ligation detection reaction. | 128 |
| A3243G - Abstract - Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.
| 77 |
| A3243G - Abstract - Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. | 133 |
| A3243G - Abstract - Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. | 69 |
| A3243G - Abstract - Diabetes mellitus associated with 3243 mitochondrial tRNA(Leu(UUR)) mutation: clinical features and coenzyme Q10 treatment.
| 104 |
| A3243G - Abstract - Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. | 76 |
| A3243G - Abstract - Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. | 85 |
| A3243G - Abstract - Diabetes with the 3243 mitochondrial tRNALeu(UUR) mutation. Characteristic neuroimaging findings. | 64 |
| A3243G - Abstract - Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood. | 154 |
| A3243G - Abstract - Dimerization of a pathogenic human mitochondrial tRNA.
| 52 |
| A3243G - Abstract - Diminished insulin secretory response to glucose but normal insulin and glucagon secretory responses to arginine in a family with maternally inherited diabetes and deafness caused by mitochondrial tRNA(LEU(UUR)) gene mutation.
| 81 |
| A3243G - Abstract - Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).
| 100 |
| A3243G - Abstract - Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy? | 72 |
| A3243G - Abstract - Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S, Cahen-Varsaux J, Bariety J.
| 53 |
| A3243G - Abstract - Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes. | 60 |
| A3243G - Abstract - Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
| 170 |
| A3243G - Abstract - Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
| 112 |
| A3243G - Abstract - Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.
| 143 |
| A3243G - Abstract - Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA.
| 79 |
| A3243G - Abstract - External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
| 89 |
| A3243G - Abstract - Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene.
| 62 |
| A3243G - Abstract - Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. | 71 |
| A3243G - Abstract - Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
| 57 |
| A3243G - Abstract - Familial early-onset type 2 diabetes in Chinese patients: obesity and genetics have more significant roles than autoimmunity. | 70 |
| A3243G - Abstract - Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). | 72 |
| A3243G - Abstract - Flow cytometric evaluation of defects of the mitochondrial respiratory chain.
| 69 |
| A3243G - Abstract - Follow-up in carriers of the ''MELAS'' mutation without strokes. | 67 |
| A3243G - Abstract - Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. | 179 |
| A3243G - Abstract - Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. | 152 |
| A3243G - Abstract - Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes).
| 59 |
| A3243G - Abstract - Fundus changes in patients with the mitochondrial DNA point mutation at position 3243. | 77 |
| A3243G - Abstract - Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.
| 118 |
| A3243G - Abstract - Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
| 74 |
| A3243G - Abstract - Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. | 170 |
| A3243G - Abstract - Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. | 64 |
| A3243G - Abstract - Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. | 59 |
| A3243G - Abstract - Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells.
| 73 |
| A3243G - Abstract - High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. | 56 |
| A3243G - Abstract - Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss.
| 63 |
| A3243G - Abstract - Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. | 129 |
| A3243G - Abstract - HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness. | 63 |
| A3243G - Abstract - Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations.
| 92 |
| A3243G - Abstract - Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). | 63 |
| A3243G - Abstract - Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.
| 61 |
| A3243G - Abstract - Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.
| 56 |
| A3243G - Abstract - Infantile encephalopathy associated with the MELAS A3243G mutation. | 162 |
| A3243G - Abstract - Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
| 64 |
| A3243G - Abstract - Inheritance and expression of mitochondrial DNA point mutations.
| 67 |
| A3243G - Abstract - Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.
| 133 |
| A3243G - Abstract - Insulin secretion and insulin sensitivity are normal in non-diabetic subjects from maternal inheritance diabetes and deafness families.
| 67 |
| A3243G - Abstract - Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. | 122 |
| A3243G - Abstract - Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease.
| 93 |
| A3243G - Abstract - Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. | 79 |
| A3243G - Abstract - Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
| 72 |
| A3243G - Abstract - Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.
| 171 |
| A3243G - Abstract - Lack of apoptosis in mitochondrial encephalomyopathies.
| 68 |
| A3243G - Abstract - Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. | 53 |
| A3243G - Abstract - Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. | 292 |
| A3243G - Abstract - Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. | 105 |
| A3243G - Abstract - Maternal transmission of diabetes. | 109 |
| A3243G - Abstract - Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. | 71 |
| A3243G - Abstract - Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family.
| 96 |
| A3243G - Abstract - Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. | 74 |
| A3243G - Abstract - Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. | 73 |
| A3243G - Abstract - Maternally inherited diabetes and deafness: a multicenter study. | 89 |
| A3243G - Abstract - Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. | 69 |
| A3243G - Abstract - Maternally-inherited diabetes and deafness: report of two affected German families with the A3243G mitochondrial DNA mutation. | 59 |
| A3243G - Abstract - MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy.
| 72 |
| A3243G - Abstract - MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
| 93 |
| A3243G - Abstract - MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA.
| 61 |
| A3243G - Abstract - MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan.
| 180 |
| A3243G - Abstract - MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study.
| 80 |
| A3243G - Abstract - Melas: an original case and clinical criteria for diagnosis. | 71 |
| A3243G - Abstract - MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. | 162 |
| A3243G - Abstract - MELAS: clinical features, biochemistry, and molecular genetics.
| 72 |
| A3243G - Abstract - MELAS: clinical phenotype and morphological brain abnormalities. | 367 |
| A3243G - Abstract - Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. | 173 |
| A3243G - Abstract - Mitochondrial 3243 BP mutation: a case report. | 171 |
| A3243G - Abstract - Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis.
| 513 |
| A3243G - Abstract - Mitochondrial diseases. | 134 |
| A3243G - Abstract - Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
| 74 |
| A3243G - Abstract - Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
| 62 |
| A3243G - Abstract - Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese.
| 64 |
| A3243G - Abstract - Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients. | 60 |
| A3243G - Abstract - Mitochondrial DNA and RNA processing in MELAS. | 65 |
| A3243G - Abstract - Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.
| 82 |
| A3243G - Abstract - Mitochondrial DNA in idiopathic cardiomyopathy. | 280 |
| A3243G - Abstract - Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.
| 75 |
| A3243G - Abstract - Mitochondrial DNA mutations and oxidative damage in aging and diseases: an emerging paradigm of gerontology and medicine. | 84 |
| A3243G - Abstract - Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. | 70 |
| A3243G - Abstract - Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome.
| 65 |
| A3243G - Abstract - Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
| 65 |
| A3243G - Abstract - Mitochondrial gene mutations in familial non-insulin-dependent diabetes mellitus in Taiwan. | 61 |
| A3243G - Abstract - Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. | 78 |
| A3243G - Abstract - Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.
| 62 |
| A3243G - Abstract - Mitochondrial myopathy and familial thiamine deficiency. | 92 |
| A3243G - Abstract - Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene. | 63 |
| A3243G - Abstract - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. | 140 |
| A3243G - Abstract - Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. | 66 |
| A3243G - Abstract - Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. | 195 |
| A3243G - Abstract - Modulating heteroplasmy. | 56 |
| A3243G - Abstract - Molecular analysis of diabetes mellitus-associated A3243G mitochondrial DNA mutation in Taiwanese cases. | 71 |
| A3243G - Abstract - Molecular and clinical aspects of mitochondrial diabetes mellitus. | 63 |
| A3243G - Abstract - Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
| 64 |
| A3243G - Abstract - Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
| 71 |
| A3243G - Abstract - mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine. | 117 |
| A3243G - Abstract - mtDNA disease in the primary care setting. | 114 |
| A3243G - Abstract - Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. | 70 |
| A3243G - Abstract - Nail-patella syndrome associated with respiratory chain disorder.
| 78 |
| A3243G - Abstract - Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. | 127 |
| A3243G - Abstract - Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. | 85 |
| A3243G - Abstract - New sensitive method for the detection of the A3243G mutation of human mitochondrial deoxyribonucleic acid in diabetes mellitus patients by ligation-mediated polymerase chain reaction. | 139 |
| A3243G - Abstract - No correlation between muscle A3243G mutation load and mitochondrial function in vivo.
| 55 |
| A3243G - Abstract - Nonrandom tissue distribution of mutant mtDNA. | 80 |
| A3243G - Abstract - Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. | 63 |
| A3243G - Abstract - Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
| 61 |
| A3243G - Abstract - Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation. | 119 |
| A3243G - Abstract - Pelvic lymphocyst infection associated with maternally inherited diabetes mellitus.
| 230 |
| A3243G - Abstract - Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.
| 64 |
| A3243G - Abstract - Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. | 62 |
| A3243G - Abstract - Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
| 58 |
| A3243G - Abstract - Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. | 138 |
| A3243G - Abstract - Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
| 175 |
| A3243G - Abstract - Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene.
| 65 |
| A3243G - Abstract - Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. | 396 |
| A3243G - Abstract - Progressive cardiomyopathy as manifestation of mitochondrial disease.
| 80 |
| A3243G - Abstract - Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation. | 85 |
| A3243G - Abstract - Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. | 86 |
| A3243G - Abstract - Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
| 66 |
| A3243G - Abstract - Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA. | 63 |
| A3243G - Abstract - Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
| 60 |
| A3243G - Abstract - Random mitotic segregation of mitochondrial DNA in MELAS syndrome. | 67 |
| A3243G - Abstract - Rapid and noninvasive screening of patients with mitochondrial myopathy.
| 59 |
| A3243G - Abstract - Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography.
| 73 |
| A3243G - Abstract - Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. | 62 |
| A3243G - Abstract - Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). | 69 |
| A3243G - Abstract - Respiratory insufficiency in a Chinese adult with mitochondrial myopathy. | 74 |
| A3243G - Abstract - Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. | 118 |
| A3243G - Abstract - Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. | 58 |
| A3243G - Abstract - Search for difference in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu (UUR).
| 64 |
| A3243G - Abstract - Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). | 165 |
| A3243G - Abstract - Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus. | 71 |
| A3243G - Abstract - Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus.
| 60 |
| A3243G - Abstract - Sensorineural hearing loss in MELAS syndrome--case report. | 108 |
| A3243G - Abstract - Sequence and organization of the human mitochondrial genome. | 127 |
| A3243G - Abstract - Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS.
| 61 |
| A3243G - Abstract - Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome. | 67 |
| A3243G - Abstract - Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
| 66 |
| A3243G - Abstract - Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.
| 71 |
| A3243G - Abstract - Study on the relationship between mitochondrial gene mutation and latent autoimmune diabetes mellitus in adults. | 134 |
| A3243G - Abstract - The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. | 161 |
| A3243G - Abstract - The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. | 77 |
| A3243G - Abstract - The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.
| 68 |
| A3243G - Abstract - The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.
| 217 |
| A3243G - Abstract - The epidemiology of pathogenic mitochondrial DNA mutations. | 62 |
| A3243G - Abstract - The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. | 66 |
| A3243G - Abstract - The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. | 59 |
| A3243G - Abstract - The mitochondrial A3243G mutation presenting as severe cardiomyopathy. | 98 |
| A3243G - Abstract - The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.
| 60 |
| A3243G - Abstract - The mitochondrial DNA A3243G mutation in Werner''s syndrome.
| 74 |
| A3243G - Abstract - The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. | 134 |
| A3243G - Abstract - The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with riboso | 77 |
| A3243G - Abstract - The np 3243 MELAS mutation: damned if you aminoacylate, damned if you dont. | 63 |
| A3243G - Abstract - The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
| 67 |
| A3243G - Abstract - The spectrum of hearing loss due to mitochondrial DNA defects. | 78 |
| A3243G - Abstract - The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation.
| 210 |
| A3243G - Abstract - The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. | 154 |
| A3243G - Abstract - The yeast counterparts of human MELAS mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.
| 119 |
| A3243G - Abstract - Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. | 78 |
| A3243G - Abstract - Towards understanding human mitochondrial leucine aminoacylation identity. | 80 |
| A3243G - Abstract - VACTERL with the mitochondrial np 3243 point mutation. | 236 |
| A3243G - Abstract - Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo.
| 62 |
| A3243G - Abstracts - Home | 1,378 |
| A3243G - Abstracts - Search Results. | 299 |
| A3243G - Andy Collinsons Journey. | 803 |
| A3243G - Book Review - Dr Bernstein''s Guide to achieving normal blood sugars. | 1,183 |
| A3243G - Book Review - Melas Angels | 410 |
| A3243G - Book Review - The Seven Daughters Of Eve. | 954 |
| A3243G - Books | 650 |
| A3243G - Contact Details | 502 |
| A3243G - Default Startup Page. | 22,074 |
| A3243G - English - Home | 104 |
| A3243G - Epidemiology of A3243G mtDNA | 287 |
| A3243G - Evidence mtDNA has bacterial origins | 598 |
| A3243G - Feedback - Form | 512 |
| A3243G - Forum - Because of a dear friend (female, 26 yo) which is | 196 |
| A3243G - Forum - Chris, I have just returned from Houston where tha | 176 |
| A3243G - Forum - Chris, Yes, MELAS is a terrible disease. My youger | 419 |
| A3243G - Forum - Disclaimer | 102 |
| A3243G - Forum - Hello
my nuroligist perscribed cq-10 but ive bee | 321 |
| A3243G - Forum - Hello Caroline...I would love to get together with | 216 |
| A3243G - Forum - Hello Chris,
I have an unmapped mito disease, but | 204 |
| A3243G - Forum - Hello Everyone.....I see that this board is not pa | 169 |
| A3243G - Forum - Hello:
i have so many quesstoins about this muta | 169 |
| A3243G - Forum - Here is my understanding of how Complexes I to V ( | 165 |
| A3243G - Forum - Hi Andy,
I am a coordinator of Mitolinks , an | 196 |
| A3243G - Forum - hope your brother is ok just thought you might lik | 168 |
| A3243G - Forum - I also receive CoQ10 from the RVI in Newcastle. H | 189 |
| A3243G - Forum - I am now receiving these free on prescription from | 165 |
| A3243G - Forum - I get mine prescribed by the neurologist at Newcas | 180 |
| A3243G - Forum - I have a girl-friend (29 years old with no symptom | 199 |
| A3243G - Forum - I have the same symptom, associated with cardiomyo | 217 |
| A3243G - Forum - I take CoQ10 @ 150 mg per day. I also take a Vitam | 203 |
| A3243G - Forum - I write from Venice Italy I am affected with a lig | 171 |
| A3243G - Forum - I,m in the same situation. I have a brother with M | 162 |
| A3243G - Forum - I'm sorry to hear about your brother. My friend, | 178 |
| A3243G - Forum - Instructions | 136 |
| A3243G - Forum - I've been looking for some insight into MELAS.
| 222 |
| A3243G - Forum - my brother is 7 years old, he has Melas syndrome, | 210 |
| A3243G - Forum - My son has been diagnosed with MELAS through a blo | 234 |
| A3243G - Forum - My son has MELAS. His doctor is prescribing L-arg | 335 |
| A3243G - Forum - People with diabetes have a wide choice of meidiat | 163 |
| A3243G - Forum - Table of Contents. | 1,714 |
| A3243G - Forum - The a3243g in a nutshell was an excellent primer f | 181 |
| A3243G - Forum - Try writing to the Chairman of the local health bo | 142 |
| A3243G - Forum - Welcome to the updated Forum.
I have copied ove | 160 |
| A3243G - French - Home | 115 |
| A3243G - Funding Details | 391 |
| A3243G - German - Home | 126 |
| A3243G - Home Page | 6,803 |
| A3243G - HONCode - Principles | 107 |
| A3243G - Human Mitochondrial DNA | 360 |
| A3243G - Image of ATP | 1,110 |
| A3243G - Image of Mitochondria | 23,825 |
| A3243G - Image of Ragged Red Fibres | 1,955 |
| A3243G - Image of the Mitochondrial Genome | 1,444 |
| A3243G - Image of tRNA(Leu) and its mutations. | 1,168 |
| A3243G - Image of use of Carnitine in fatty acid oxidation in mitochondria. | 3,213 |
| A3243G - Images - Home | 1,527 |
| A3243G - In a Nutshell, how the A3243G mtDNA mutation causes problems. | 797 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1981 | 135 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1984 | 138 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1990 | 124 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1991 | 122 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1992 | 130 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1993 | 114 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1994 | 118 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1995 | 129 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1996 | 134 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1997 | 126 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1998 | 154 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 1999 | 122 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 2000 | 159 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 2001 | 249 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 2002 | 174 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc, for 2003 | 374 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc. | 628 |
| A3243G - Index of Abstracts relating to A3243G, MELAS, MIDD, etc., with Full Free Text | 442 |
| A3243G - Information - Home | 1,950 |
| A3243G - Introduction to Mitochondria | 1,294 |
| A3243G - Italian - Home | 130 |
| A3243G - Jargon - A | 321 |
| A3243G - Jargon - A3243G | 1,212 |
| A3243G - Jargon - ADP | 225 |
| A3243G - Jargon - Amino Acids | 742 |
| A3243G - Jargon - Aminoacylation | 335 |
| A3243G - Jargon - Anticodon | 218 |
| A3243G - Jargon - Apoptosis | 168 |
| A3243G - Jargon - Asymptomatic | 190 |
| A3243G - Jargon - Ataxia | 154 |
| A3243G - Jargon - ATP | 864 |
| A3243G - Jargon - A-Z | 1,077 |
| A3243G - Jargon - B | 257 |
| A3243G - Jargon - Basal Ganglia | 184 |
| A3243G - Jargon - C | 279 |
| A3243G - Jargon - Carnitine | 326 |
| A3243G - Jargon - Codon | 214 |
| A3243G - Jargon - Complex I, (1). | 221 |
| A3243G - Jargon - Complex II, (2). | 148 |
| A3243G - Jargon - Complex III, (3). | 133 |
| A3243G - Jargon - Complex IV, (4). | 139 |
| A3243G - Jargon - Complex V, (5). | 172 |
| A3243G - Jargon - Complexes I to V, (1 to 5). | 242 |
| A3243G - Jargon - CoQ10 | 305 |
| A3243G - Jargon - COX | 205 |
| A3243G - Jargon - COX Negative | 180 |
| A3243G - Jargon - CPEO | 535 |
| A3243G - Jargon - Creatine | 205 |
| A3243G - Jargon - Cybrid Cells | 851 |
| A3243G - Jargon - D | 249 |
| A3243G - Jargon - Diabetes | 333 |
| A3243G - Jargon - DNA | 342 |
| A3243G - Jargon - E | 236 |
| A3243G - Jargon - Encephalomyopathy | 1,117 |
| A3243G - Jargon - Eukaryotic Cell | 358 |
| A3243G - Jargon - F | 223 |
| A3243G - Jargon - G | 241 |
| A3243G - Jargon - H | 237 |
| A3243G - Jargon - Haplotype | 210 |
| A3243G - Jargon - Heteroplasmy | 970 |
| A3243G - Jargon - Homoplasmy | 386 |
| A3243G - Jargon - Hypoparathyroidism | 254 |
| A3243G - Jargon - I | 211 |
| A3243G - Jargon - J | 207 |
| A3243G - Jargon - K | 205 |
| A3243G - Jargon - L | 219 |
| A3243G - Jargon - Lactate | 151 |
| A3243G - Jargon - Lactic Acid | 180 |
| A3243G - Jargon - leu - Leucine | 198 |
| A3243G - Jargon - M | 306 |
| A3243G - Jargon - Macular Pattern Dystrophy | 761 |
| A3243G - Jargon - MELAS | 1,142 |
| A3243G - Jargon - MERRF | 334 |
| A3243G - Jargon - MIDD | 1,002 |
| A3243G - Jargon - Mitochondria | 1,143 |
| A3243G - Jargon - Mitosis | 246 |
| A3243G - Jargon - Mitotic Tissues | 281 |
| A3243G - Jargon - mRNA | 159 |
| A3243G - Jargon - mtDNA | 1,470 |
| A3243G - Jargon - MTTL1 | 260 |
| A3243G - Jargon - Mutant | 216 |
| A3243G - Jargon - N | 207 |
| A3243G - Jargon - O | 197 |
| A3243G - Jargon - Oligosymptomatic | 373 |
| A3243G - Jargon - Oxidation | 130 |
| A3243G - Jargon - Oxidative Phosphorylation | 562 |
| A3243G - Jargon - OXPHOS | 283 |
| A3243G - Jargon - P | 235 |
| A3243G - Jargon - PCR | 164 |
| A3243G - Jargon - Post Mitotic Tissues | 1,182 |
| A3243G - Jargon - Prokaryotic Cells | 299 |
| A3243G - Jargon - Ptosis | 157 |
| A3243G - Jargon - Pyruvate | 132 |
| A3243G - Jargon - Q | 156 |
| A3243G - Jargon - R | 196 |
| A3243G - Jargon - Ragged Red Fibres | 1,716 |
| A3243G - Jargon - Reduction | 121 |
| A3243G - Jargon - Ribosome | 181 |
| A3243G - Jargon - rRNA | 165 |
| A3243G - Jargon - S | 205 |
| A3243G - Jargon - Southern Blot | 394 |
| A3243G - Jargon - Symptomatic | 155 |
| A3243G - Jargon - T | 189 |
| A3243G - Jargon - Threshold | 147 |
| A3243G - Jargon - Tinnitus | 386 |
| A3243G - Jargon - tRNA | 224 |
| A3243G - Jargon - tRNA(leu) | 221 |
| A3243G - Jargon - U | 166 |
| A3243G - Jargon - Ubiquinone | 201 |
| A3243G - Jargon - V | 158 |
| A3243G - Jargon - VACTERL | 349 |
| A3243G - Jargon - W | 167 |
| A3243G - Jargon - Wild Type | 253 |
| A3243G - Jargon - X | 167 |
| A3243G - Jargon - Y | 164 |
| A3243G - Jargon - Z | 178 |
| A3243G - Links | 716 |
| A3243G - Maternal Inheritance of mtDNA | 1,626 |
| A3243G - Media - Home | 513 |
| A3243G - Media - Howy Jacobs collects Descartes Prize. | 2,410 |
| A3243G - MELAS Introductory Level | 1,570 |
| A3243G - MIDD Introductory Level | 1,018 |
| A3243G - Mitochondrial DNA - An Introduction | 445 |
| A3243G - MitoMap - Map of Mitochondrial DNA (mtDNA) | 703 |
| A3243G - Newsletter | 715 |
| A3243G - Newsletter - Sign up | 401 |
| A3243G - Personal Journeys | 760 |
| A3243G - Privacy Policy | 301 |
| A3243G - Review - Mitochondrial Diabetes | 1,572 |
| A3243G - Reviews | 880 |
| A3243G - Site Map | 559 |
| A3243G - Spanish - Home | 100 |
| A3243G - Statistics - Home | 895 |
| A3243G - Statistics - List Hits | 1,316 |
| A3243G - Statistics - List Languages | 971 |
| A3243G - Support Group | 896 |
| A3243G - Terms | 290 |
| A3243G - Treatment - CoQ10 | 471 |
| A3243G - Treatment - Disclaimer | 121 |
| A3243G - Treatments - Contra Indicated | 597 |
| A3243G - Treatments - Home | 1,516 |
| A3243G - Treatments - Introduction. | 440 |
| A3243G - Variety of symptoms caused by the A3243G mtDNA point mutation. | 984 |
| A3243G - Whats New | 1,057 |
| | 172265 |
436 pages were listed.
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