| Go | Date | Title |
 | Sep
2003 | MELAS: clinical phenotype and morphological brain abnormalities. |
| Aug
2003 | [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome]
|
| Aug
2003 | The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation.
|
| Aug
2003 | Pelvic lymphocyst infection associated with maternally inherited diabetes mellitus.
|
| Jul
2003 | Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
|
| May
2003 | Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.
|
| May
2003 | A review of cochlear implantation in mitochondrial sensorineural hearing loss. |
| May
2003 | Towards understanding human mitochondrial leucine aminoacylation identity. |
| Apr
2003 | Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.
|
| Apr
2003 | [Dichloroacetate treatment for adult patients with mitochondrial disease]
|
| Apr
2003 | A study of mitochondrial DNA mutations in peripheral lymphocytes in an aging cohort.
|
| Mar
2003 | Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.
|
| Mar
2003 | Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease.
|
| Mar
2003 | Search for difference in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu (UUR).
|
| Mar
2003 | The mitochondrial DNA A3243G mutation in Werner's syndrome.
|
| Feb
2003 | Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells.
|
| Feb
2003 | The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
|
| Jan
2003 | Increased metabolic muscle fatigue is caused by some but not all mitochondrial mutations.
|
| Jan
2003 | [Cardiomyopathy showing progression from diffuse left ventricular hypertrophy to dilated phase associated with mitochondrial DNA point mutation A3243G: A case report]
|
| Jan
2003 | The yeast counterparts of human MELAS mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu.
|
| Jan
2003 | Comparative bioavailability of two novel coenzyme Q10 preparations in humans. |
| Dec
2002 | [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications]
|
| Dec
2002 | 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.
|
| Nov
2002 | Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).
|
| Oct
2002 | Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA.
|
| Sep
2002 | Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.
|
| Sep
2002 | Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.
|
| Aug
2002 | Can mitochondrial DNA mutations cause sperm dysfunction?
|
| Aug
2002 | Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.
|
| Aug
2002 | Dimerization of a pathogenic human mitochondrial tRNA.
|
| Jul
2002 | Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. |
| Jul
2002 | Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.
|
| Jul
2002 | A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness.
|
| Jun
2002 | Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography.
|
| Jun
2002 | Study on the relationship between mitochondrial gene mutation and latent autoimmune diabetes mellitus in adults. |
| May
2002 | Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
|
| May
2002 | Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
|
| May
2002 | External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
|
| May
2002 | Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis.
|
| May
2002 | Progressive cardiomyopathy as manifestation of mitochondrial disease.
|
| Apr
2002 | Respiratory insufficiency in a Chinese adult with mitochondrial myopathy. |
| Apr
2002 | Modulating heteroplasmy. |
| Mar
2002 |
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
|
| Mar
2002 | Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. |
| Mar
2002 | [Intestinal pseudoobstructions and gastric necrosis in mitochondrial myopathy]
|
| Feb
2002 | Maternal transmission of diabetes. |
| Feb
2002 | Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. |
| Dec
2001 | Mitochondrial 3243 BP mutation: a case report. |
| Dec
2001 | The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. |
| Dec
2001 | Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes. |
| Dec
2001 | Molecular analysis of diabetes mellitus-associated A3243G mitochondrial DNA mutation in Taiwanese cases. |
| Nov
2001 | [The research progress of the association of mitochondrial DNA mutation with cardiomyopathy]
|
| Nov
2001 | Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. |
| Nov
2001 | mtDNA disease in the primary care setting. |
| Sep
2001 | Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. |
| Sep
2001 | Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. |
| Aug
2001 | Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
|
| Aug
2001 | [A case of MELAS presenting complex partial status epilepticus] |
| Jul
2001 | An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. |
| Jul
2001 | A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
|
| Jul
2001 | 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.
|
| Jun
2001 | [From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)] |
| Jun
2001 | Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation. |
| May
2001 | Insulin secretion and insulin sensitivity are normal in non-diabetic subjects from maternal inheritance diabetes and deafness families.
|
| May
2001 | Maternally inherited diabetes and deafness: a multicenter study. |
| May
2001 | An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.
|
| May
2001 | Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. |
| Apr
2001 | Lack of apoptosis in mitochondrial encephalomyopathies.
|
| Apr
2001 | Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
|
| Apr
2001 | Familial early-onset type 2 diabetes in Chinese patients: obesity and genetics have more significant roles than autoimmunity. |
| Apr
2001 | Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.
|
| Apr
2001 | No correlation between muscle A3243G mutation load and mitochondrial function in vivo.
|
| Mar
2001 | [Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients]
|
| Mar
2001 | Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
|
| Mar
2001 | Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus. |
| Mar
2001 | Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
|
| Feb
2001 | [Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics]
|
| Feb
2001 | De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring.
|
| Feb
2001 | Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
|
| Jan
2001 | Molecular and clinical aspects of mitochondrial diabetes mellitus. |
| Jan
2001 | Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
|
| Jan
2001 | Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus.
|
| Jan
2001 | Nail-patella syndrome associated with respiratory chain disorder.
|
| Jan
2001 | Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. |
| Jan
2001 | Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
|
| Jan
2001 | Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. |
| Dec
2000 | HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness. |
| Dec
2000 | [MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data]
|
| Dec
2000 | Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.
|
| Nov
2000 | [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA]
|
| Nov
2000 | Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, Bedrossian J, Caillat-Zucman S, Cahen-Varsaux J, Bariety J.
|
| Nov
2000 | Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome.
|
| Sep
2000 | Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.
|
| Aug
2000 | Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes).
|
| Aug
2000 | The epidemiology of pathogenic mitochondrial DNA mutations. |
| Jul
2000 | Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance.
|
| Jul
2000 | Mitochondrial myopathy and familial thiamine deficiency. |
| Jul
2000 | Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss.
|
| Jun
2000 | [Molecular studies in Cuban patients with progressive external ophthalmoplegia]
|
| Jun
2000 | 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 ribosomes.
|
| May
2000 | Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. |
| May
2000 | Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese.
|
| Mar
2000 | The np 3243 MELAS mutation: damned if you aminoacylate, damned if you dont. |
| Mar
2000 | Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo.
|
| Mar
2000 | Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
|
| Mar
2000 | Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. |
| Feb
2000 | Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
|
| Feb
2000 | Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
|
| Feb
2000 | mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine. |
| Jan
2000 | The spectrum of hearing loss due to mitochondrial DNA defects. |
| Jan
2000 | Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. |
| Jan
2000 | Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family.
|
| Jan
2000 | MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study.
|
| Jan
2000 | Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
|
| Oct
1999 | The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.
|
| Sep
1999 | Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. |
| Sep
1999 | High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. |
| Sep
1999 | Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.
|
| Aug
1999 | Nonrandom tissue distribution of mutant mtDNA. |
| Aug
1999 | Flow cytometric evaluation of defects of the mitochondrial respiratory chain.
|
| Aug
1999 | Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
|
| Jul
1999 | Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. |
| Jul
1999 | Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.
|
| Jun
1999 | Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. |
| Jun
1999 | Infantile encephalopathy associated with the MELAS A3243G mutation. |
| May
1999 | Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
|
| Apr
1999 | 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. |
| Mar
1999 | The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.
|
| Feb
1999 | Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. |
| Feb
1999 | Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). |
| Jan
1999 | [Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case] |
| Dec
1998 | Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). |
| Dec
1998 | A False-Positive Diagnosis for the Common MELAS (A3243G) Mutation Caused by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA. |
| Nov
1998 | Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy? |
| Nov
1998 | Mitochondrial DNA in idiopathic cardiomyopathy. |
| Nov
1998 | Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. |
| Oct
1998 | Detection and quantification of the A3243G mutation of mitochondrial DNA by ligation detection reaction. |
| Oct
1998 | 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. |
| Oct
1998 | Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood. |
| Oct
1998 | MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
|
| Oct
1998 | Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene. |
| Aug
1998 | Sensorineural hearing loss in MELAS syndrome--case report. |
| Aug
1998 | Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome. |
| Aug
1998 | Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. |
| Aug
1998 | Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
|
| Jul
1998 | [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA] |
| May
1998 | Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. |
| May
1998 | The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.
|
| Apr
1998 | A tRNA suppressor mutation in human mitochondria.
|
| Apr
1998 | Mitochondrial DNA mutations and oxidative damage in aging and diseases: an emerging paradigm of gerontology and medicine. |
| Mar
1998 | Cochlear origin of hearing loss in MELAS syndrome. |
| Mar
1998 | Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation. |
| Mar
1998 | [Molecular diagnosis of mitochondrial disorders] |
| Jan
1998 | Follow-up in carriers of the 'MELAS' mutation without strokes. |
| Jan
1998 | Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. |
| Jan
1998 | [A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)] |
| Jan
1998 | Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients. |
| Jan
1998 | Maternally-inherited diabetes and deafness: report of two affected German families with the A3243G mitochondrial DNA mutation. |
| Dec
1997 | A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. |
| Nov
1997 | Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. |
| Nov
1997 | The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. |
| Oct
1997 | Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
|
| Sep
1997 | 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. |
| Aug
1997 | Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. |
| Jul
1997 | Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. |
| Jul
1997 | The mitochondrial A3243G mutation presenting as severe cardiomyopathy. |
| Jun
1997 | Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. |
| Jun
1997 | Advanced telomere shortening in respiratory chain disorders. |
| Jun
1997 | Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. |
| Jun
1997 | [Clinical characterizations of familial diabetes mellitus associated with mitochondrial gene mutation] |
| Apr
1997 | [A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA] |
| Apr
1997 | Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. |
| Apr
1997 | Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA. |
| Feb
1997 | Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. |
| Jan
1997 | Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA. |
| Jan
1997 | Diabetes mellitus associated with 3243 mitochondrial tRNA(Leu(UUR)) mutation: clinical features and coenzyme Q10 treatment.
|
| Oct
1996 | Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
|
| Oct
1996 | Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. |
| Aug
1996 | [A sensitive fluorescent assay for the detection and quantification of mitochondrial 3243 mutation]
|
| Aug
1996 | Mitochondrial DNA and RNA processing in MELAS. |
| Jul
1996 | The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. |
| Jul
1996 | Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. |
| Jul
1996 | Diabetes with the 3243 mitochondrial tRNALeu(UUR) mutation. Characteristic neuroimaging findings. |
| Jun
1996 | MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy.
|
| Jun
1996 | MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA.
|
| Apr
1996 | The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. |
| Apr
1996 | Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. |
| Apr
1996 | VACTERL with the mitochondrial np 3243 point mutation. |
| Feb
1996 | Random mitotic segregation of mitochondrial DNA in MELAS syndrome. |
| Jan
1996 | Fundus changes in patients with the mitochondrial DNA point mutation at position 3243. |
| Jan
1996 | MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. |
| Jan
1996 | Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.
|
| Dec
1995 | [Mitochondrial encephalomyopathies: 3243 mutation as a central matter]
|
| Nov
1995 | Mitochondrial gene mutations in familial non-insulin-dependent diabetes mellitus in Taiwan. |
| Sep
1995 | Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. |
| Aug
1995 | Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
|
| Aug
1995 | MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan.
|
| Jul
1995 | [Detection of a mutation in mitochondrial DNA in a family with sensorineural deafness and diabetes mellitus as the predominant clinical features]
|
| Jul
1995 | Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene.
|
| Jun
1995 | The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. |
| May
1995 | Inheritance and expression of mitochondrial DNA point mutations.
|
| May
1995 | Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.
|
| May
1995 | Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
|
| Apr
1995 | A case of diabetic amyotrophy associated with 3243 mitochondrial tRNA(leu; UUR) mutation and successful therapy with coenzyme Q10.
|
| Apr
1995 | Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene.
|
| Jan
1995 | Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. |
| Jan
1995 | Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA.
|
| Jan
1995 | Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. |
| Jun
1994 | Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. |
| Jun
1994 | 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. |
| Apr
1994 | A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. |
| Mar
1994 | 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.
|
| Jan
1994 | Rapid and noninvasive screening of patients with mitochondrial myopathy.
|
| Jan
1994 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. |
| Jan
1994 | Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
|
| Dec
1993 | Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies.
|
| May
1993 | Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS.
|
| May
1993 | Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
|
| Mar
1993 | Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). |
| Mar
1993 | The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. |
| Dec
1992 | Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. |
| Dec
1992 | Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. |
| Oct
1992 | Mitochondrial diseases. |
| Aug
1992 | Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. |
| Apr
1992 | MELAS: clinical features, biochemistry, and molecular genetics.
|
| Jan
1992 | Melas: an original case and clinical criteria for diagnosis. |
| Dec
1991 | A specific point mutation in the mitochondrial genome of Caucasians with MELAS. |
| Oct
1991 | A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). |
| Sep
1991 | 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). |
| Dec
1990 | A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
|
| Dec
1990 | A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
|
| Oct
1984 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. |
| Apr
1981 | Sequence and organization of the human mitochondrial genome. |
233 Abstracts were listed.
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