Index | PMID | Date | Reference |
---|---|---|---|
1 | 3180221 | 1988 | Wallace, D.C., Zheng, X., Lott, M.T., Shoffner, J.M., Hodge, J.A., Kelley, R.I., Epstein, C.M., Hopkins, L.C. (1988) Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease Cell . 55 (4): 601-610 . |
2 | 2112427 | 1990 | Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W., Wallace, D. C. (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation Cell . 61 (6): 931-937 . |
3 | 2124116 | 1990 | Yoneda, M., Tanno, Y., Horai, S., Ozawa, T., Miyatake, T., Tsuji, S. (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers Biochemistry International . 21 (5): 789-796 . |
4 | 1661776 | 1991 | Seibel, P., Degoul, F., Bonne, G., Romero, N., Francois, D., Paturneau-Jouas, M., Ziegler, F., Eymard, B., Fardeau, M., Marsac, C., Kadenback, B. (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF) Journal of the Neurological Sciences . 105 (2): 217-224 . |
5 | 1674297 | 1991 | Hammans, S.R., Sweeney, M.G., Brockington, M., Morgan-Hughes, J.A., Harding, A.E. (1991) Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples Lancet . 337 (8753): 1311-1313 . |
6 | 1678125 | 1991 | Berkovic, S. F., Shoubridge, E. A., Andermann, F., Andermann, E., Carpenter, S., Karpati, G. (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344 Lancet . 338 (8764): 457 . |
7 | 1709275 | 1991 | Lauber, J., Marsac, C., Kadenbach, B., Seibel, P. (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases Nucleic Acids Research . 19 (7): 1393-1397 . |
8 | 1899320 | 1991 | Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A., DiDonato, S. (1991) Rapid detection of the A-G (8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF) American Journal of Human Genetics . 48 (2): 203-211 . |
9 | 1910259 | 1991 | Noer, A.S., Sudoya, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E., Marzuki, S. (1991) A tRNALys mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome American Journal of Human Genetics . 49 (4): 715-722 . |
10 | 1910341 | 1991 | Tanno, Y., Yondea, M., Nonaka, I., Tanaka, K., Miyatake, T., Tsuji, S. (1991) Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients Biochemical and Biophysical Research Communications . 179 (2): 880-885 . |
11 | 1962048 | 1991 | Shoffner, J. M., Lott, M. T., Wallace, D. C. (1991) MERRF: A model disease for understanding the principles of mitochondrial genetics Revue Neurologique (Paris) . 147 (40701): 431-435 . |
12 | 1324294 | 1992 | Penisson-Besnier, I., Degoul, F., Desnuelle, C., Dubas, F., Josi, K., Emile, J., Lestienne, P. (1992) Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins Journal of the Neurological Sciences . 110 (40545): 144-148 . |
13 | 1334369 | 1992 | Boulet, L., Karpati, G., Shoubridge, E. A. (1992) Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF) American Journal of Human Genetics . 51 (6): 1187-1200 . |
14 | 1431990 | 1992 | Suomalainen, A., Ciafaloni, E., Koga, Y., Peltonen, L., DiMauro, S., Shon, E. (1992) Use of single strand conformational polymorphisms analysis to detect point mutations in human mitochondrial DNA Journal of the Neurological Sciences . 111 (2): 222-226 . |
15 | 1463006 | 1992 | Larsson, N.G., Tulinius, M.H., Holme, E., Oldfors, A.,ersen, O., Wahlstrom, J., Aasly, J. (1992) Segregation and manifestations of the mtDNA tRNALys A-G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome American Journal of Human Genetics . 51 (6): 1201-1212 . |
16 | 1487239 | 1992 | Lertrit, P., Noer, A.S., Byrne, E., Marzuki, S. (1992) Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy Human Genetics . 90 (3): 251-254 . |
17 | 1606473 | 1992 | Hammans, S.R., Sweeney, M.G., Wicks, D.A., Morgan-Hughes, J.A., Harding, A.E. (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies Brain . 115 (Pt 2): 343-365 . |
18 | 8170567 | 1993 | Silvestri, G., Ciafaloni, E., Santorelli, F.M., Shanske, S., Servidei, S., Graf, W.D., Sumi, M., DiMauro, S. (1993) Clinical features associated with the A-G transition at nucleotide 8344 of mtDNA ('MERRF mutation') Neurology . 43 (6): 1200-1206 . |
19 | 8228033 | 1993 | Ohtsuka, Y., Amano, R., Oka, E., Ohtahara, S. (1993) Myoclonus epilepsy with ragged-red fibers: a clinical and electrophysiologic follow-up study on two sibling cases Journal of Child Neurology . 8 (4): 366-372 . |
20 | 8386419 | 1993 | Franceschetti, S., Antozzi, C., Binelli, S., Carrara, F., Nardocci, N., Zeviani, M., Avanzini, G. (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases Acta Neurologica Scandinavica . 87 (3): 219-223 . |
21 | 8388680 | 1993 | Graf, W.D., Sumi, S.M., Copass, M.K., Ojemann, L.M., Longstreth, W.T., Jr., Shanske, S., Lombes, A., DiMauro, S. (1993) Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA Annals of Neurology . 33 (6): 640-645 . |
22 | 8428629 | 1993 | Munscher, C., Rieger, T., Muller-Hocker, J., Kadenbach, B. (1993) The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages FEBS Letters . 317 (40545): 27-30 . |
23 | 8447321 | 1993 | Holme, E., N.G., L., Oldfors, A., Tulinius, M., Sahlin, P., Stenman, G. (1993) 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 myoclonus epilepsy and ragged-red fibers (MERRF) syndrome American Journal of Human Genetics . 52 (3): 551-556 . |
24 | 8454287 | 1993 | De Vries, D.D., De Wijs, I.J., Wolff, G., Ketelsen, U.P., Ropers, H.H., Van Oost, B.A. (1993) X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder Human Genetics . 91 (1): 51-54 . |
25 | 8492942 | 1993 | Matthews, P.M., Ford, B., Dandurand, R.J., Eidelman, D.H., O'Connor, D., Sherwin, A., Karpati, G.,ermann, F., Arnold, D.L. (1993) Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease Neurology . 43 (5): 884-890 . |
26 | 8513395 | 1993 | Hammans, S.R., Sweeney, M.G., Brockington, M., Lennox, G.G., Lawton, N.F., Kennedy, C.R., Morgan-Hughes, J.A., Harding, A.E. (1993) The mitochondrial DNA transfer RNALys A-G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA Brain . 116 (Pt 3): 617-632 . |
27 | 7837776 | 1994 | Campos, Y., Bautista, J., Gutierrez-Rivas, E., Llabres, J., Lorenzo, G., Arenas, J. (1994) Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA Journal of Inherited Metabolic Disease . 17 (5): 634-635 . |
28 | 7882812 | 1994 | Suzuki, S., Hinokio, Y., Hirai, S., Onoda, M., Matsumoto, M., Ohtomo, M., Kawasaki, H., Satoh, Y., Akai, H., Abe, K., Toyota, T. (1994) Diabetes with mitochondrial gene tRNALys mutation Diabetes Care . 17 (12): 1428-1432 . |
29 | 8006688 | 1994 | Thompson, P.D., Hammans, S.R., Harding, A.E. (1994) Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNALys(8344) (MERRF) mutation Journal of Neurology . 241 (5): 335-340 . |
30 | 8041403 | 1994 | Calabresi, P.A., Silvestri, G., DiMauro, S., Griggs, R.C. (1994) Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF Muscle and Nerve . 17 (8): 943-945 . |
31 | 8133313 | 1994 | Sweeney, M.G., Hammans, S.R., Duchen, L.W., Cooper, J.M., Schapira, A.H., Kennedy, C.R., Jacobs, J.M., Youl, B.D., Morgan-Hughes, J.A., Harding, A.E. (1994) Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy Journal of the Neurological Sciences . 121 (1): 57-65 . |
32 | 8139569 | 1994 | Yoneda, M., Miyatake, T., G., A. (1994) Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles Molecular and Cellular Biology . 14 (4): 2699-2712 . |
33 | 8198140 | 1994 | Chomyn, A., Lai, S.T., Shakeley, R., Bresolin, N., Scarlato, G., Attardi, G. (1994) Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers American Journal of Human Genetics . 54 (6): 966-974 . |
34 | 7565871 | 1995 | Kadenbach, B., Munscher, C., Frank, V., Muller-Hocker, J., Napiwotzki, J. (1995) Human aging is associated with stochastic somatic mutations of mitochondrial DNA Mutation Research . 338 (40549): 161-172 . |
35 | 7603509 | 1995 | Larsson, N.G., Tulinius, M.H., Holme, E., Oldfors, A. (1995) Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas Muscle and Nerve . 3 (6): S102-106 . |
36 | 7603535 | 1995 | Fukuhara, N. (1995) Clinicopathological features of MERRF Muscle and Nerve . 3 (4): S90-S94 . |
37 | 7603536 | 1995 | Yoneda, M., Miyatake, T., Attardi, G. (1995) Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants Muscle and Nerve . 3 (101): S95-101 . |
38 | 7647790 | 1995 | Enriquez, J. A., Chomyn, A., Attardi, G. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination Nature Genetics . 10 (1): 47-55 . |
39 | 7735877 | 1995 | Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A., Turnbull, D. M., Bindoff, L. A. (1995) Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients Brain . 118 (Pt 2): 339-57 . |
40 | 7739567 | 1995 | Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A., King, M. P. (1995) In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes Molecular and Cellular Biology . 15 (5): 2872-2881 . |
41 | 7850981 | 1995 | Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., Tanaka, H. (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation . 91 (4): 955-961 . |
42 | 8559379 | 1996 | Howell, N., Kubacka, I., Smith, R., Frerman, F., Parks, J. K., Parker, W. D., Jr. (1996) Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease Neurology . 46 (1): 219-222 . |
43 | 8602753 | 1996 | Rahman, S., Blok, R.B., Dahl, H.H., Danks, D.M., Kirby, D.M., Chow, C.W., Christodoulou, J., Thorburn, D.R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities Annals of Neurology . 39 (3): 343-351 . |
44 | 8622733 | 1996 | Chen, R. S., Huang, C. C., Chu, N. S., Chu, C. C., Shih, K. D., Pang, C. Y., Wei, Y. H. (1996) Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome Muscle and Nerve . 19 (4): 519-521 . |
45 | 8809026 | 1996 | James, A. M., Wei, Y. H., Pang, C. Y., Murphy, M. P. (1996) Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations Biochemical Journal . 318 (Pt 2): 401-407 . |
46 | 9365365 | 1997 | Chinnery, P.F., Howell, N., Lightowlers, R.N., Turnbull, D.M. (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes Brain . 120 (Pt 10): 1713-1721 . |
47 | 9384601 | 1998 | Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 . |
48 | 9541428 | 1998 | Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S., Osame, M. (1998) Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation Acta Ophthalmologica Scandinavica . 76 (1): 6-13 . |
49 | 9798744 | 1998 | Chinnery, P.F., Howell, N., Lightowlers, R.N., Turnbull, D.M. (1998) MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring Brain . 121 (Pt 10): 1889-1894 . |
50 | 9818878 | 1998 | Austin, S.A., Vriesendorp, F.J., Thandroyen, F.T., Hecht, J.T., Jones, O.T., Johns, D.R. (1998) Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation Neurology . 51 (5): 1447-1450 . |
51 | 9851442 | 1998 | Santorelli, F.M., Tanji, K., Shanske, S., Krishna, S., Schmidt, R.E., Greenwood, R.S., DiMauro, S., De Vivo, D.C. (1998) The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past Annals of Neurology . 44 (6): 962-964 . |
52 | 9883816 | 1999 | Wang, Y.L., Choi, H.K., Aul, C., Gattermann, N., Heinisch, J. (1999) The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia American Journal of Hematology . 60 (1): 83-84 . |
53 | 10426322 | 1999 | Brini, M., Pinton, P., King, M.P., Davidson, M., Schon, E.A., Rizzuto, R. (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency Nature Medicine . 5 (8): 951-954 . |
54 | 10611124 | 2000 | Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 . |
55 | 10699170 | 2000 | Borner, G. V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K. D., Lochmuller, H., Pongratz, D., Klopstock, T., Melberg, A., Holme, E., Paabo, S. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients Human Molecular Genetics . 9 (4): 467-475 . |
56 | 10716764 | 2000 | Munoz-Malaga, A., Bautista, J., Salazar, J. A., Aguilera, I., Garcia, R., Chinchon, I., Segura, M. D., Campos, Y., Arenas, J. (2000) Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Muscle and Nerve . 23 (4): 538-542 . |
57 | 10753928 | 2000 | Enriquez, J. A., Cabezas-Herrera, J., Bayona-Bafaluy, M. P., Attardi, G. (2000) Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells Journal of Biological Chemistry . 275 (15): 11207-11215 . |
58 | 10862082 | 2000 | Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 . |
59 | 10939569 | 2000 | Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology . 48 (2): 188-193 . |
60 | 10942580 | 2000 | Cavelier, L., Johannisson, A., Gyllensten, U. (2000) Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR Experimental Cell Research . 259 (1): 79-85 . |
61 | 11074292 | 2000 | Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 . |
62 | 11160915 | 2001 | Szuhai, K., Ouweland, J., Dirks, R., Lemaitre, M., Truffert, J., Janssen, G., Tanke, H., Holme, E., Maassen, J., Raap, A. (2001) Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR Nucleic Acids Research . 29 (3): E13 . |
63 | 11335700 | 2001 | Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 . |
64 | 16120315 | 2002 | Yasukawa, T., Suzuki, T., Ohta, S., Watanabe, K. (2002) Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations Mitochondrion . 2 (40545): 129-141 . |
65 | 12471464 | 2003 | Tanji, K., Gamez, J., Cervera, C., Mearin, F., Ortega, A., de la Torre, J., Montoya, J., Andreu, A. L., DiMauro, S., Bonilla, E. (2003) The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction Acta Neuropathologica . 105 (1): 69-75 . |
66 | 12661941 | 2003 | Tsao, C. Y., Herman, G., Boue, D. R., Prior, T. W., Lo, W. D., Atkin, J. F., Rusin, J. (2003) Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review Journal of Child Neurology . 18 (1): 62-64 . |
67 | 12876264 | 2003 | Remes, A. M., Karppa, M., Moilanen, J. S., Rusanen, H., Hassinen, I. E., Majamaa, K., Uimonen, S., Sorri, M., Salmela, P. I., Karvonen, S. L. (2003) Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome Journal of Neurology, Neurosurgery and Psychiatry . 74 (8): 1158-1159 . |
68 | 14639582 | 2003 | Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A., Arenas, J. (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients Muscle and Nerve . 28 (6): 690-695 . |
69 | 15100439 | 2004 | Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 . |
70 | 15164143 | 2004 | Vallance, H. D., Jeven, G., Wallace, D. C., Brown, M. D. (2004) A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation Pediatric Cardiology . 25 (5): 538-540 . |
71 | 15317755 | 2004 | Kolesnikova, O. A., Entelis, N. S., Jacquin-Becker, C., Goltzene, F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Martin, R. P., Tarassov, I. (2004) Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells Human Molecular Genetics . 13 (20): 2519-2534 . |
72 | 15466086 | 2004 | Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 . |
73 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
74 | 15619607 | 2005 | Mahata, B., Bhattacharyya, S. N., Mukherjee, S., Adhya, S. (2005) Correction of translational defects in patient-derived mutant mitochondria by complex-mediated import of a cytoplasmic tRNA Journal of Biological Chemistry . 280 (7): 5141-5144 . |
75 | 15683723 | 2005 | Canter, J. A., Eshaghian, A., Fessel, J., Summar, M. L., Roberts, L. J., Morrow, J. D., Sligh, J. E., Haines, J. L. (2005) Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation Free Radical Biology and Medicine . 38 (5): 678-683 . |
76 | 15893315 | 2005 | Yasukawa, T., Kirino, Y., Ishii, N., Holt, I. J., Jacobs, H. T., Makifuchi, T., Fukuhara, N., Ohta, S., Suzuki, T., Watanabe, K. (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases FEBS Letters . 579 (13): 2948-2952 . |
77 | 16326995 | 2006 | Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 . |
78 | 16483543 | 2006 | Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 . |
79 | 16815877 | 2006 | Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S., Vissing, J. (2006) Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy Brain . 129 (Pt 12): 3402-3412 . |
80 | 16947981 | 2006 | Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 . |
81 | 17053148 | 2006 | Mahata, B., Mukherjee, S., Mishra, S., Bandyopadhyay, A., Adhya, S. (2006) Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells Science . 314 (5798): 471-474 . |
82 | 17236134 | 2007 | Zsurka, G., Hampel, K. G., Kudina, T., Kornblum, C., Kraytsberg, Y., Elger, C. E., Khrapko, K., Kunz, W. S. (2007) Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis American Journal of Human Genetics . 80 (2): 298-305 . |
83 | 17275787 | 2007 | Mancuso, M., Petrozzi, L., Filosto, M., Nesti, C., Rocchi, A., Choub, A., Pistolesi, S., Massetani, R., Fontanini, G., Siciliano, G. (2007) MERRF syndrome without ragged-red fibers: the need for molecular diagnosis Biochemical and Biophysical Research Communications . 354 (4): 1058-1560 . |
84 | 17323145 | 2007 | Zhang, Y., Yang, Y. L., Sun, F., Cai, X., Qian, N., Yuan, Y., Wang, Z. X., Qi, Y., Xiao, J. X., Wang, X. Y., Zhang, Y. H., Jiang, Y. W., Qin, J., Wu, X. R. (2007) Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome Journal of Inherited Metabolic Disease . 30 (2): 265 . |
85 | 17653689 | 2007 | Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Prevalence and progression of diabetes in mitochondrial disease Diabetologia . 50 (10): 2085-2089 . |
86 | 17886296 | 2007 | Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 . |
87 | 17989367 | 2008 | Ito, S., Shirai, W., Asahina, M., Hattori, T. (2008) Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation AJNR American Journal of Neuroradiology . 29 (2): 392-395 . |
88 | 18319067 | 2008 | Fornuskova, D., Brantova, O., Tesarova, M., Stiburek, L., Honzik, T., Wenchich, L., Tietzeova, E., Hansikova, H., Zeman, J. (2008) The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues Biochimica et Biophysica Acta . 1782 (5): 317-325 . |
89 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
90 | 18674747 | 2008 | Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 . |
91 | 18848389 | 2009 | Perez, F., Anne, O., Debruxelles, S., Menegon, P., Lambrecq, V., Lacombe, D., Martin-Negrier, M. L., Brochet, B., Goizet, C. (2009) Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clinical Neurology and Neurosurgery . 111 (1): 83-86 . |
92 | 19266142 | 2009 | Molnar, M. J., Perenyi, J., Siska, E., Nemeth, G., Nagy, Z. (2009) The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders Journal of Neurology . 256 (2): 264-265 . |
93 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
94 | 19486129 | 2009 | Jeppesen, T. D., Duno, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F., Vissing, J. (2009) Short- and long-term effects of endurance training in patients with mitochondrial myopathy European Journal of Neurology . 16 (12): 1336-1339 . |
95 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
96 | NA | 2010 | Wahbi, K., Larue, S., Jardel, C., Meune, C., Stojkovic, T., Ziegler, F., Lombes, A., Eymard, B., Duboc, D., Laforet, P. (2010) Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA Neurology . 74 (8): 674-677 . |
97 | 19941338 | 2010 | Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 . |
98 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
99 | 20123042 | 2010 | Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 . |
100 | 20581069 | 2010 | Biancheri, R., Rossi, D., Cassandrini, D., Rossi, A., Bruno, C., Santorelli, F. M. (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation AJNR. American Journal of Neuroradiology . 31 (9): E78-79 . |
101 | 21935892 | 2010 | Yarham, J. W., Elson, J. L., Blakely, E. L., McFarland, R., Taylor, R. W. (2010) Mitochondrial tRNA mutations and disease Wiley Interdisciplinary Reviews. RNA . 1 (2): 304-324 . |
102 | 21473984 | 2011 | Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 . |
103 | 22249460 | 2012 | Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 . |
104 | 22411789 | 2012 | Wang, G., Shimada, E., Zhang, J., Hong, J. S., Smith, G. M., Teitell, M. A., Koehler, C. M. (2012) Correcting human mitochondrial mutations with targeted RNA import Proceedings of the National Academy of Sciences of the United States of America . 109 (13): 4850-4855 . |
105 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
106 | 22577219 | 2012 | Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 . |
107 | 22781547 | 2012 | Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 . |
108 | 23006856 | 2013 | Chang, J. C., Liu, K. H., Li, Y. C., Kou, S. J., Wei, Y. H., Chuang, C. S., Hsieh, M., Liu, C. S. (2013) Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery Neurosignals . 21 (3-4): 160-173 . |
109 | 23297368 | 2013 | Samuels, D. C., Wonnapinij, P., Chinnery, P. F. (2013) Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction (Oxford, England) . 28 (3): 554-559 . |
110 | 23376095 | 2013 | Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 . |
111 | 23390135 | 2013 | Monnot, S., Samuels, D. C., Hesters, L., Frydman, N., Gigarel, N., Burlet, P., Kerbrat, V., Lamazou, F., Frydman, R., Benachi, A., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2013) Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis Human Molecular Genetics . 22 (9): 1867-1872 . |
112 | 23838278 | 2013 | Jeppesen, T. D., Orngreen, M. C., Van Hall, G., Vissing, J. (2013) Lactate metabolism during exercise in patients with mitochondrial myopathy Neuromuscular Disorders . 23 (8): 629-636 . |
113 | 24642831 | 2014 | Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 . |
114 | 24961732 | 2014 | Han, J. Y., Sung, J. J., Park, H. K., Yoon, B. N., Lee, K. W. (2014) Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation Journal of Clinical Neuroscience . 21 (11): 2009-2011 . |
115 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
116 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |
117 | 26404827 | 2015 | Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 . |
118 | 26995359 | 2016 | Altmann, J., Buchner, B., Nadaj-Pakleza, A., Schafer, J., Jackson, S., Lehmann, D., Deschauer, M., Kopajtich, R., Lautenschlager, R., Kuhn, K. A., Karle, K., Schols, L., Schulz, J. B., Weis, J., Prokisch, H., Kornblum, C., Claeys, K. G., Klopstock, T. (2016) Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry Journal of Neurology . 263 (5): 961–972 . |
119 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
120 | 29139113 | 2018 | Kraya, T., Deschauer, M., Joshi, P. R., Zierz, S., Gaul, C. (2018) Prevalence of headache in patients with mitochondrial disease: a cross-sectional study Headache . 58 (1): 45-52. Erratum: Headache 58(2): 358 . |
121 | 29288969 | 2018 | Wu, Y. T., Hsu, Y. H., Huang, C. Y., Ho, M. C., Cheng, Y. C., Wen, C. H., Ko, H. W., Lu, H. E., Chen, Y. C., Tsai, C. L., Hsu, Y. C., Wei, Y. H., Hsieh, P. C. H. (2018) Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome Stem Cell Research . 27 (): 10-14 . |
122 | 29390138 | 2018 | Asano, K., Suzuki, T., Saito, A., Wei, F. Y., Ikeuchi, Y., Numata, T., Tanaka, R., Yamane, Y., Yamamoto, T., Goto, T., Kishita, Y., Murayama, K., Ohtake, A., Okazaki, Y., Tomizawa, K., Sakaguchi, Y., Suzuki, T. (2018) Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease Nucleic Acids Research . 46 (4): 1565-1583 . |
123 | 29650490 | 2018 | Dulovic, M., Schaffer, E., Leypoldt, F., Balck, A., Schaake, S., Hinrichs, F., Kirchner, H., Bruggemann, N., Berg, D., Lohmann, K. (2018) A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members Parkinsonism and Related Disorders . 54 (): 116-118 . |
124 | 30146801 | 2018 | Su, T., Grady, J. P., Afshar, S., McDonald, S. A., Taylor, R. W., Turnbull, D. M., Greaves, L. C. (2018) Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations The Journal of Pathology . 246 (4): 427-432 . |
125 | 30674338 | 2019 | Chang, J. C., Chang, H. S., Wu, Y. C., Cheng, W. L., Lin, T. T., Chang, H. J., Kuo, S. J., Chen, S. T., Liu, C. S. (2019) Mitochondrial transplantation regulates antitumour activity, chemoresistance and mitochondrial dynamics in breast cancer Journal of Experimental and Clinical Cancer Research . 38 (1): 30 . |
126 | 30797798 | 2019 | Villanueva-Paz, M., Povea-Cabello, S., Villalon-Garcia, I., Suarez-Rivero, J. M., Alvarez-Cordoba, M., de la Mata, M., Talaveron-Rey, M., Jackson, S., Sanchez-Alcazar, J. A. (2019) Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming Biochimica et Biophysica Acta. Molecular Cell Research . 1866 (5): 861-881 . |
127 | 31178476 | 2019 | Finsterer, J. (2019) Exercise-induced falls Attributed to the variant m.8344A>G Internal Medicine . 58 (18): 2751 . |
128 | 31178486 | 2019 | Miyaue, N., Yamanishi, Y., Tada, S., Ando, R., Nagai, M., Nomoto, M. (2019) Phenotypic diversity of myoclonus epilepsy associated with ragged-red ribers with an 8344A>G mtDNA mutation Internal Medicine . 58 (18): 2753 . |
129 | 31345444 | 2019 | Nikolaus, M., Tietze, A., Schweizer, L., Kaindl, A. M., Stenzel, W., Schuelke, M., Knierim, E. (2019) Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease Brain and Development . 41 (10): 901-904 . |
130 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
131 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |