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Journal Abstract Search

272 related items for PubMed ID: 11108511

  • 1. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
    Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S.
    J Child Neurol; 2000 Nov; 15(11):759-61. PubMed ID: 11108511
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  • 2. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
    Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP.
    J Neurol Sci; 2009 Jun 15; 281(1-2):85-92. PubMed ID: 19278689
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  • 5. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.
    Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R.
    Neurology; 1999 Jan 15; 52(2):377-82. PubMed ID: 9932960
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  • 7. The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
    Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE.
    Ann Neurol; 2003 Dec 15; 54(6):820-3. PubMed ID: 14681892
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  • 13. MERRF syndrome with overwhelming lactic acidosis.
    Sanger TD, Jain KD.
    Pediatr Neurol; 1996 Jan 15; 14(1):57-61. PubMed ID: 8652018
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  • 14. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
    Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.
    Neurology; 2004 Jun 08; 62(11):2119-21. PubMed ID: 15184630
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  • 17. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
    Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, Zeviani M, Berardinelli A, Lanzi G.
    J Child Neurol; 2006 Jan 08; 21(1):79-82. PubMed ID: 16551460
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  • 18. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.
    Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH.
    Muscle Nerve; 1994 Jan 08; 17(1):52-7. PubMed ID: 8264702
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  • 19. [MERRF (myoclonus epilepsy associated with ragged-red fibers)].
    Goto Y.
    Ryoikibetsu Shokogun Shirizu; 2001 Jan 08; (36):150-2. PubMed ID: 11596350
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  • 20. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.
    Graf WD, Sumi SM, Copass MK, Ojemann LM, Longstreth WT, Shanske S, Lombes A, DiMauro S.
    Ann Neurol; 1993 Jun 08; 33(6):640-5. PubMed ID: 8388680
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