| scholarly article | Q13442814 |
| P50 | author | Antonio Federico | Q56811275 |
| P2093 | author name string | G M Fabrizi | |
| A Malandrini | |||
| G Guazzi | |||
| M T Dotti | |||
| G S Grieco | |||
| T Cavallaro | |||
| E Cardaioli | |||
| L Manneschi | |||
| P2860 | cites work | MELAS: clinical features, biochemistry, and molecular genetics | Q48496312 |
| Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome | Q48691635 | ||
| The 3243 MELAS Mutation in a Pedigree with MERRF | Q53717317 | ||
| Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA | Q61943995 | ||
| The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study | Q71843071 | ||
| Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF | Q72084348 | ||
| Melas: an original case and clinical criteria for diagnosis | Q28201094 | ||
| Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome | Q28259574 | ||
| Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? | Q33910255 | ||
| Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
| Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature | Q34712806 | ||
| The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle | Q35195556 | ||
| A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF) | Q35196249 | ||
| A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene | Q48071183 | ||
| Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies | Q48274133 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | MERRF syndrome | Q1881388 |
| P304 | page(s) | 47-51 | |
| P577 | publication date | 1996-07-01 | |
| P1433 | published in | Journal of Neurology, Neurosurgery and Psychiatry | Q1599804 |
| P1476 | title | The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome | |
| P478 | volume | 61 |
| Q50518436 | Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation. |
| Q37185443 | Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA |
| 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. |
| Q35266591 | Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene |
| Q38533544 | MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options |
| Q78005682 | Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness |
| Q36581411 | Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck |
| Q31403503 | Mitochondrial myopathy and familial thiamine deficiency |
| Q51501560 | Mitochondrial respiratory chain disorders in the Old Order Amish population. |
| Q44051987 | Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation |
| Q41725491 | Recent developments in the molecular genetics of mitochondrial disorders |
| Q44647334 | Spontaneous event of mitochondrial DNA mutation, A3243G, found in a family of identical twins |
| Q37551852 | The identification of mitochondrial DNA variants in glioblastoma multiforme |
| Q36492305 | The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options |
| Q74744127 | mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl |
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