| 1 | LHON, MELAS, MERRF, NARP
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| Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
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| Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V.
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| Biochim Biophys Acta iochim Biophys Acta. 2008 Oct 15. [Epub ahead of print]
2008
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| 2 | MERRF, MT-TS1
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| A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
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| Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.
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| Eur J Hum Genet 16(10):1265-74. Epub 2008 Apr 9. 2008
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| 3 | MERRF
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| MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
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| Mancuso M, Petrozzi L, Filosto M, Nesti C, Rocchi A, Choub A, Pistolesi S, Massetani R, Fontanini G, Siciliano G.
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| Biochem Biophys Res Commun 354(4):1058-60. Epub 2007 Jan 26. 2007
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| 4 | MERRF
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| A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA.
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| Nagashima T, Kato H, Maguchi S, Chuma T, Mano Y, Goto Y, Nonaka I, Nagashima K.
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| Neuromuscul Disord 11(5):470-6. Review. 2001
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| 5 | MERRF
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| A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.
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| Arenas J, et al.
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| Neurology 52(2):377-82. 1999
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| 6 | MERRF
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| A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
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| Tiranti V, et al.
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| Neuromuscul Disord 9(2):66-71. 1999
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| 7 | MERRF
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| A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.
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| Shtilbans A, El-Schahawi M, Malkin E, Shanske S, Musumeci O, DiMauro S.
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| J Child Neurol 14(9):610-3 1999
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| 8 | MERRF
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| Myoclonus epilepsy associated with ragged-red fibers : A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families.
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| Ozawa M, et al.
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| Muscle Nerve 20 : 271-278. 1997
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| 9 | MERRF
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| Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease.
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| Howell N, et al.
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| Neurology 46 : 219-222. 1996
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| 10 | MERRF
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| A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.
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| Verma A, et al.
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| Neurology 46 : 1334-1336. 1996
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| 11 | MERRF, MELAS
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| A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome.
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| Nakamura M, et al.
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| Biochem Biophys Res Commun 214 : 86-93. 1995
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| 12 | MELAS, MERRF
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| Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.
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| Shoffner JM, et al.
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| Neurology 45 : 286-292. 1995
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| 13 | MERRF
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| MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination.
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| Enriquez JA, et al.
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| Nat Genet 10 : 47-55. 1995
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| 14 | MERRF, MT-TN
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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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| Moraes CT, et al.
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| J Clin Invest 92 : 2906-2915. 1993
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| 15 | MERRF
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| Multiple symmetric lipomas with high levels of mtDNA with the tRNALys A-G(8344) mutation as the only manifestation of disease in a carrier of myoclonous epilepsy and ragged-red fibers (MERRF) syndrome.
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| Holme E, et al.
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| Am J Hum Genet 52 : 551-556. 1993
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| 16 | MERRF
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| Myoclonus epilepsy and ragged-red fibers : blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.
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| Piccolo G, et al.
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| Acta Neurol Scand 88 : 406-409. 1993
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| 17 | MERRF
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| The point mutation of mitochondrial DNA characteristic for MERRF.
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| MŸnscher C, et al.
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| FEBS Lett 317 : 27-30. 1993
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| 18 | MERRF
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| X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.
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| de Vries DD, et al.
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| Hum Genet 91 : 51-54. 1993
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| 19 | MERRF
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| Clinical features associated with the A-G transition at nucleotide 8344 of mtDNA (MERRF mutation).
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| Silvestri G, et al.
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| Neurology 43 : 1200-1206. 1993
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| 20 | MERRF
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| A new mtDNA mutation in the tRNA-Lys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
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| Silvestri G, et al.
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| Am J Hum Genet 51 : 1213-1217. 1992
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| 21 | MERRF
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| Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.
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| Penisson-Besnier I, et al.
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| J Neurol Sci 110 : 144-148. 1992
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| 22 | MERRF
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| Segregation and manifestations of the mtDNA tRNALys A-G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
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| Larsson NG, et al.
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| Am J Hum Genet 51 : 1201-1212. 1992
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| 23 | MERRF
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| Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease.
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| Shih KD, et al.
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| Biochem Biophys Res Commun 174 : 1109-1116. 1991
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| 24 | MERRF
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| A tRNA-Lys mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
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| Noer AS, et al.
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| Am J Hum Genet 49 : 715-722. 1991
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| 25 | MERRF
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| Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).
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| Seibel P, et al.
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| J Neurol Sci 105 : 217-224. 1991
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| 26 | MERRF
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| Quantitation of mitochondrial DNA Carrying tRNA-Lys mutation in MERRF patients.
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| Tanno Y, et al.
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| Biochem Biophys Res Commun 179 : 880-885. 1991
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| 27 | MERRF
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| Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonous epilepsy and ragged-red fibers (MERRF).
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| Zeviani M, et al.
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| Am J Hum Genet 48 : 203-211. 1991
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| 28 | MERRF
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| A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
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| Yoneda M, et al.
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| Biochem Int 21 : 789-796. 1990
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| 29 | MERRF
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| Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA-Lys mutation.
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| Shoffner JM, et al.
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| Cell 61 : 931-937. 1990
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| 30 | MERRF
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| Identification of point mutations by mispairing PCR as exemplified in Merrf disease.
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| Seibel P, et al.
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| Biochem Biophys Res Commun 173 : 561-565. 1990
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| 31 | MERRF
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| Myoclonic epilepsy and ragged-red fiber disease (MERRF) is caused by a mitochondrial DNA tRNA-Lys mutation and responds to coenzyme Q (CoQ) therapy.
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| Wallace DC, et al.
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| Am J Hum Genet 47 : A240. 1990
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| 32 | MERRF
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| Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease.
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| Wallace DCX, et al.
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| Cell 55 : 601-610. 1988
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