| Go | Date | Title |
 | Aug
2003 | The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation.
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| Jul
2003 | Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
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| 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.
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| Sep
2002 | Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.
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| Aug
2002 | Can mitochondrial DNA mutations cause sperm dysfunction?
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| Jul
2002 | Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. |
| May
2002 | External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
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| May
2002 | Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
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| May
2002 | Progressive cardiomyopathy as manifestation of mitochondrial disease.
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| Sep
2001 | Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. |
| Jul
2001 | A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
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| 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.
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| May
2001 | Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. |
| May
2001 | Insulin secretion and insulin sensitivity are normal in non-diabetic subjects from maternal inheritance diabetes and deafness families.
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| Apr
2001 | Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.
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| Apr
2001 | Familial early-onset type 2 diabetes in Chinese patients: obesity and genetics have more significant roles than autoimmunity. |
| Apr
2001 | Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
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| Mar
2001 | Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
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| Mar
2001 | Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus. |
| Feb
2001 | Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
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| Feb
2001 | De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring.
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| Jan
2001 | Nail-patella syndrome associated with respiratory chain disorder.
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| Jan
2001 | Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
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| 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]
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| Dec
2000 | Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.
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| 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.
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| Sep
2000 | Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.
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| 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).
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| Jul
2000 | Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss.
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| Jul
2000 | Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance.
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| 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.
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| May
2000 | Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese.
|
| May
2000 | Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. |
| Mar
2000 | Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
|
| Mar
2000 | The np 3243 MELAS mutation: damned if you aminoacylate, damned if you dont. |
| Feb
2000 | Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
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| Jan
2000 | The spectrum of hearing loss due to mitochondrial DNA defects. |
| Jan
2000 | MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study.
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| 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.
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| Sep
1999 | Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.
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| Aug
1999 | Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
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| Aug
1999 | Nonrandom tissue distribution of mutant mtDNA. |
| Feb
1999 | Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). |
| Oct
1998 | MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
|
| 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. |
| Aug
1998 | Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. |
| Oct
1997 | Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
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| 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. |
| Jun
1997 | Advanced telomere shortening in respiratory chain disorders. |
| Dec
1992 | Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. |
50 Abstracts were listed.
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