Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation (Q37092297)

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scientific article published on 18 February 2008

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English	Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation	scientific article published on 18 February 2008

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scholarly article

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Europe PubMed Central

PubMed publication ID

18 August 2017

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Europe PubMed Central

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation (English)

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Europe PubMed Central

PubMed publication ID

18 August 2017

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based on heuristic

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author name string

R Murphy

1

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Europe PubMed Central

PubMed publication ID

18 August 2017

D M Turnbull

2

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Europe PubMed Central

PubMed publication ID

18 August 2017

M Walker

3

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Europe PubMed Central

PubMed publication ID

18 August 2017

A T Hattersley

4

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Europe PubMed Central

PubMed publication ID

18 August 2017

publication date

18 February 2008

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Europe PubMed Central

PubMed publication ID

18 August 2017

Diabetic Medicine

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Europe PubMed Central

PubMed publication ID

18 August 2017

25

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Europe PubMed Central

PubMed publication ID

18 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

383-399

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Europe PubMed Central

PubMed publication ID

18 August 2017

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Clinical features of A3243G mitochondrial tRNA mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

1 reference

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External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation

1 reference

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21 January 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Molecular mechanisms of mitochondrial diabetes (MIDD).

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21 January 2018

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

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21 January 2018

Maternally inherited diabetes and deafness: a multicenter study

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21 January 2018

Mitochondrial diabetes: molecular mechanisms and clinical presentation

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21 January 2018

GAD antibody in mitochondrial diabetes associated with tRNA(UUR) mutation at position 3271.

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21 January 2018

Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNA(Leu(UUR)) mutation.

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21 January 2018

Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells

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21 January 2018

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

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21 January 2018

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

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21 January 2018

Clinical and laboratory characteristics in the families with diabetes and a mitochondrial tRNA(LEU(UUR)) gene mutation

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21 January 2018

Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients

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21 January 2018

Dietary composition, body weight, and NIDDM. Comparison of high-fiber, high-carbohydrate, and modified-fat diets

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21 January 2018

Insulin resistance in mitochondrial gene mutation.

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21 January 2018

Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.

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https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Insulin resistance associated with maternally inherited diabetes and deafness

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21 January 2018

Mitochondrial DNA mutation and depletion increase the susceptibility of human cells to apoptosis

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21 January 2018

The spectrum of hearing loss due to mitochondrial DNA defects

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21 January 2018

Cochlear origin of hearing loss in MELAS syndrome

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21 January 2018

Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene

1 reference

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21 January 2018

Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation

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21 January 2018

Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression

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21 January 2018

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation

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A genetic approach to understanding auditory function

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21 January 2018

Mitochondrial diabetes mellitus: a review

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21 January 2018

MIDD and MELAS: a clinical spectrum.

1 reference

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21 January 2018

Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications

1 reference

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21 January 2018

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

1 reference

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21 January 2018

Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.

1 reference

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21 January 2018

Mental disorders in diabetic patients with mitochondrial transfer RNALeu (UUR) mutation at position 3243

1 reference

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21 January 2018

Depressive disorder due to mitochondrial transfer RNALeu(UUR) mutation

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21 January 2018

Macular Pattern Retinal Dystrophy, Adult-onset Diabetes, and Deafness: A Family Study of A3243G Mitochondrial Heteroplasmy

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21 January 2018

Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness

1 reference

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21 January 2018

Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.

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21 January 2018

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

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Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

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Progression of cardiac dysfunction in a case of mitochondrial diabetes: a case report

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Myocardial dysfunction in maternally inherited diabetes and deafness.

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21 January 2018

Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

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21 January 2018

Progressive cardiomyopathy as manifestation of mitochondrial disease

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21 January 2018

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

1 reference

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Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

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Decreased heart rate variability and its association with increased mortality after acute myocardial infarction

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Melas: an original case and clinical criteria for diagnosis

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Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation

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A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation

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Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene

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Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation

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A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy.

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Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene

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21 January 2018

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

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21 January 2018

Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA.

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Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

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Intestinal pseudo-obstruction in a diabetic man: role of the mitochondrial A3243G mutation

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Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

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Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family

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Gastric dysmotility associated with accumulation of mitochondrial A3243G mutation in the stomach

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LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient

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Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

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21 January 2018

Pelvic lymphocyst infection associated with maternally inherited diabetes mellitus

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Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

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Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

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21 January 2018

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 Mutation1

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21 January 2018

Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation

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Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

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The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method

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High-sensitivity detection of the A3243G mutation of mitochondrial DNA by a combination of allele-specific PCR and peptide nucleic acid-directed PCR clamping

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Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patients

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Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patients.

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A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

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The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

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The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.

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Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNALeu(UUR) region

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Mitochondrial Deoxyribonucleic Acid 3256C-T Mutation in a Japanese Family with Noninsulin-Dependent Diabetes Mellitus1

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Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing

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Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation

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Mitochondrial tRNA(Leu(UUR)) mutation at position 3243 and symptomatic polyneuropathy in type 2 diabetes.

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A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA Leu(UUR) 3254C-to-G

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Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation

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Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review

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Phenotypic Expression of Diabetes Secondary to a T14709C Mutation of Mitochondrial DNA: Comparison with MIDD syndrome (A3243G mutation): a case report

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Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome

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Mutation in the mitochondrial tRNA(leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies.

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Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes

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Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation

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Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A-->G transition) occur in the mother of a proband of a Japanese MELAS pedigree?

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21 January 2018

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation

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Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene

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21 January 2018

Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation

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A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy

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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

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Mitochondrial role in hair cell survival after injury

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The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection

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The MELAS syndrome. Review of the literature: the role of the otologist

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Cochlear implantation in a profoundly deaf patient with MELAS syndrome

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A review of cochlear implantation in mitochondrial sensorineural hearing loss

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Effects of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors on mitochondrial respiration in ischaemic dog hearts

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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

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The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation

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21 January 2018

Diabetes mellitus associated with 3243 mitochondrial tRNALeu(UUR) mutation: Clinical features and coenzyme Q10 treatment

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Coenzyme Q10 in patients with end-stage heart failure awaiting cardiac transplantation: a randomized, placebo-controlled study.

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Treatment of congestive heart failure with coenzyme Q10 Illuminated by meta-analyses of clinical trials

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Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

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Follow-Up in Carriers of the ‘MELAS’ Mutation without Strokes

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21 January 2018

Mitochondrial diabetes mellitus

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MELAS: clinical features, biochemistry, and molecular genetics

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

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21 January 2018

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

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21 January 2018

Infantile encephalopathy associated with the MELAS A3243G mutation

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21 January 2018

UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients

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21 January 2018

A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Low prevalence of the substitution of adenine to guanine at the 3243 nucleotide position of mitochondrial DNA (MtDNA) among Indonesian diabetic subjects

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Screening for mtDNA diabetes mutations in Pima Indians with NIDDM.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

A Case of a De Novo A3243G Mutation in Mitochondrial DNA in a Patient with Diabetes and Deafness

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Nuclear genetic control of mitochondrial DNA segregation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medica

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2008.02359.X

21 January 2018

Identifiers

10.1111/J.1464-5491.2008.02359.X

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

ResearchGate publication ID

0 references

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