| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/0140-6736(91)92981-7 |
| P953 | full work available at URL | https://api.elsevier.com/content/article/PII:0140673691929817?httpAccept=text/plain |
| https://api.elsevier.com/content/article/PII:0140673691929817?httpAccept=text/xml | ||
| P698 | PubMed publication ID | 1674297 |
| P50 | author | Mary G. Sweeney | Q64857049 |
| John A. Morgan-Hughes | Q120718586 | ||
| P2093 | author name string | A. E. Harding | |
| S. R. Hammans | |||
| M. Brockington | |||
| P2860 | cites work | Sequence and organization of the human mitochondrial genome | Q27860659 |
| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
| Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study | Q30840538 | ||
| Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
| A new mitochondrial disease associated with mitochondrial DNA heteroplasmy | Q34627393 | ||
| Duplications of mitochondrial DNA in mitochondrial myopathy | Q44528735 | ||
| Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome | Q46963412 | ||
| A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies | Q48836050 | ||
| Classification of progressive myoclonus epilepsies and related disorders | Q58417281 | ||
| Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA | Q69414414 | ||
| P433 | issue | 8753 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1311-1313 | |
| P577 | publication date | 1991-06-01 | |
| P1433 | published in | The Lancet | Q939416 |
| P1476 | title | Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples | |
| P478 | volume | 337 |
| Q89241575 | A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient |
| Q53857387 | A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy. |
| Q72092524 | A mitochondrial tRNA anticodon swap associated with a muscle disease |
| Q48086669 | A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. |
| Q35196249 | A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF) |
| Q48745870 | Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA. |
| Q42547278 | Biochemical and genetic studies in a family with mitochondrial myopathy |
| Q36940979 | Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence |
| Q35260216 | Clinical and laboratory findings in referrals for mitochondrial DNA analysis |
| Q71852962 | Clinical features of melas and mitochondrial DNA mutations |
| Q37092297 | Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation |
| Q48623333 | Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients |
| Q48168271 | Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation |
| Q34043733 | Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study |
| Q42133322 | Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. |
| Q36811500 | Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes |
| Q35243825 | Defects of mitochondrial DNA |
| Q67581828 | Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts |
| Q77763581 | Detection of MELAS A3243G point mutation in muscle, blood and hair follicles |
| Q71859091 | Detection of mitochondrial DNA mutations in patients with diabetes mellitus |
| Q40849007 | Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis |
| Q35848671 | Diseases resulting from mitochondrial DNA point mutations |
| Q41180826 | Disorders of the electron transport chain |
| Q48276256 | EEG and evoked potential findings in mitochondrial myopathies |
| Q28201358 | Endocrine dysfunction in Kearns-Sayre syndrome |
| Q52016801 | Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. |
| Q61943995 | Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA |
| Q34264417 | Human mitochondrial DNA diseases |
| Q36551176 | In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. |
| Q33675684 | Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations |
| Q38617364 | Leigh syndrome: One disorder, more than 75 monogenic causes |
| Q33732462 | MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family |
| Q52226853 | Maternally inherited Leigh syndrome. |
| Q71509055 | Metabolic myopathies |
| Q72091685 | Mitochondrial DNA and Genetic Disease |
| Q87072205 | Mitochondrial DNA defects in cardiomyopathy |
| Q37322156 | Mitochondrial dysfunction in neurodegenerative diseases. |
| Q33540911 | Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype |
| Q70724206 | Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases |
| Q46361960 | Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient |
| Q72134564 | Mitochondrial gene defects in patients with NIDDM |
| Q33785697 | Mitochondrial myopathies and encephalomyopathies |
| Q72048508 | Myoclonic Epilepsy with Ragged‐red Fibers (MERRF): An Immunohistochemical Study of the Brain |
| Q36901269 | Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy |
| Q40807256 | Neuropathy associated with mitochondrial disorders |
| Q72877460 | Non-isotopic and sensitive method for diagnosis of maternally-inherited diabetes and deafness |
| Q55038470 | Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. |
| Q48690187 | Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation |
| Q36307369 | PCR in the analysis of mutations in mitochondrial DNA. |
| Q35199431 | Prenatal diagnosis of mitochondrial DNA8993 T----G disease |
| Q39670018 | Prevalence and progression of mitochondrial diseases: a study of 50 patients |
| Q73798802 | Progressive dystonia with optic atrophy in a Jewish-Iraqi family |
| Q36075070 | Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects |
| Q48183962 | Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome |
| Q47995917 | Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. |
| Q72679730 | Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing |
| Q72860652 | Rapid and noninvasive screening of patients with mitochondrial myopathy |
| Q30495790 | The DNA laboratory and neurological practice |
| Q59697232 | The investigation of mitochondrial respiratory chain disease |
| Q73182916 | The kidney in mitochondrial cytopathies |
| Q71061502 | Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome |
| Q33910255 | Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? |
| Q60695177 | Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy |
| Q26777744 | When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis? |
| Q38261972 | When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
| Q35059486 | mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences |
Search more.