MITOMAP References for RNA Mutation A8344G

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1 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 .
2 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 .
3 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 .
4 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 .
5 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 .
6 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 .
7 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 .
8 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 .
9 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 .
10 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 .
11 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 .
12 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 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 .
20 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 .
21 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 .
22 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 .
23 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 .
24 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 .
25 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 .
26 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 .
27 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 .
28 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 .
29 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 .
30 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 .
31 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 .
32 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 .
33 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 .
34 7603535 1995 Fukuhara, N. (1995) Clinicopathological features of MERRF Muscle and Nerve . 3 (4): S90-S94 .
35 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 .
36 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 .
37 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 .
38 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 .
39 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 .
40 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 .
41 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 .
42 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 .
43 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 .
44 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 .
45 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 .
46 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 .
47 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 .
48 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 .
49 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 .
50 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 .
51 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 .
52 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 .
53 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 .
54 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 .
55 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 .
56 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 .
57 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 .
58 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 .
59 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 .
60 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 .
61 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 .
62 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 .
63 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 .
64 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 .
65 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 .
66 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 .
67 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 .
68 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 .
69 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 .
70 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 .
71 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
72 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 .
73 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 .
74 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 .
75 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 .
76 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 .
77 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 .
78 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 .
79 34146515 2021 Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M. (2021) Mitochondrial disease in adults: recent advances and future promise [Review] Lancet Neurology . 20 (7): 573-584 .
80 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 .
81 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 .
82 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 .
83 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 .
84 14748908 2004 Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. (2004) Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001 Internal Medicine Journal . 34 (40545): 10-19 .
85 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 .
86 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
87 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 .
88 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 .
89 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 .
90 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 .
91 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 .
92 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 .
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