| 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 | 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 . |
| 70 | 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 . |
| 71 | 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 . |
| 72 | 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 . |
| 73 | 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 . |
| 74 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 75 | 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 . |
| 76 | 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 . |
| 77 | 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 . |
| 78 | 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 . |
| 79 | 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 . |
| 80 | 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 . |
| 81 | 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 . |
| 82 | 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 . |
| 83 | 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 . |
| 84 | 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 . |
| 85 | 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 . |
| 86 | 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 . |
| 87 | 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 . |
| 88 | 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 . |
| 89 | 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 . |
| 90 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
| 91 | 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 . |
| 92 | 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 . |
| 93 | 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 . |
| 94 | 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 . |
| 95 | 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 . |
| 96 | 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 . |
| 97 | 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 . |
| 98 | 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 . |
| 99 | 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 . |
| 100 | 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 . |
| 101 | 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 . |
| 102 | 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 . |
| 103 | 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 . |
| 104 | 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 . |
| 105 | 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 . |
| 106 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
| 107 | 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 . |
| 108 | 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 . |
| 109 | 23257519 | 2012 | Rikimaru, M., Ohsawa, Y., Wolf, A. M., Nishimaki, K., Ichimiya, H., Kamimura, N., Nishimatsu, S., Ohta, S., Sunada, Y. (2012) Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS Internal Medicine . 51 (24): 3351-3357 . |
| 110 | 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 . |
| 111 | 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 . |
| 112 | 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 . |
| 113 | 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 . |
| 114 | 23635963 | 2013 | Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Caldarazzo Ienco, E., Filosto, M., Lamperti, C., Martinelli, D., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Spinazzi, M., Valentino, M. L., Vercelli, L., Zeviani, M., Siciliano, G. (2013) Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation Neurology . 80 (22): 2049-2054 . |
| 115 | 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 . |
| 116 | 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 . |
| 117 | 24931247 | 2014 | Liu, Y., Xue, J., Zhao, D., Chen, L., Yuan, Y., Wang, Z. (2014) Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies Chinese Medical Journal (English) . 127 (12): 2304-2309 . |
| 118 | 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 . |
| 119 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
| 120 | 25559684 | 2015 | Catteruccia, M., Sauchelli, D., Della Marca, G., Primiano, G., Cuccagna, C., Bernardo, D., Leo, M., Camporeale, A., Sanna, T., Cianfoni, A., Servidei, S. (2015) Myo-cardiomyopathy is commonly associated with the A8344G "MERRF" mutation Journal of Neurology . 262 (3): 701-710 . |
| 121 | 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 . |
| 122 | 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 . |
| 123 | 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 . |
| 124 | 28716227 | 2017 | Lu, Y., Zhao, D., Yao, S., Wu, S., Hong, D., Wang, Q., Liu, J., Smeitink, J. A. M., Yuan, Y., Wang, Z. (2017) Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy Journal of the Neurological Sciences . 379 (): 137-143 . |
| 125 | 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 . |
| 126 | 28754700 | 2018 | Vachin, P., Adda-Herzog, E., Chalouhi, G., Elie, C., Rio, M., Rondeau, S., Gigarel, N., Jabot Hanin, F., Monnot, S., Borghese, R., Bengoa, J., Ville, Y., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2018) Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders Journal of Medical Genetics . 55 (2): 131-136 . |
| 127 | 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 . |
| 128 | 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 . |
| 129 | 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 . |
| 130 | 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 . |
| 131 | 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 . |
| 132 | 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 . |
| 133 | 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 . |
| 134 | 31178476 | 2019 | Finsterer, J. (2019) Exercise-induced falls Attributed to the variant m.8344A>G Internal Medicine . 58 (18): 2751 . |
| 135 | 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 . |
| 136 | 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 . |
| 137 | 31665838 | 2019 | Han, X. D., Fang, F., Li, H., Liu, Z. M., Shi, Y. Q., Wang, J. L., Ren, X. T., Ding, C. H., Chen, C. H., Li, J. W., Zhang, W. H., Deng, J. (2019) [Clinical and genetic characteristics of 62 children with mitochondrial epilepsy] Chinese Journal of Pediatrics [Zhonghua Er Ke Za Zhi] . 57 (11): 844-851 . |
| 138 | 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 . |
| 139 | 32504279 | 2020 | Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 . |
| 140 | 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 . |
| 141 | 35922766 | 2022 | Capristo, M., Del Dotto, V., Tropeano, C. V., Fiorini, C., Caporali, L., La Morgia, C., Valentino, M. L., Montopoli, M., Carelli, V., Maresca, A. (2022) Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys Molecular Medicine . 28 (1): 90 . |
| 142 | 36675808 | 2023 | Ripolone, M., Zanotti, S., Napoli, L., Ronchi, D., Ciscato, P., Comi, G. P., Moggio, M., Sciacco, M. (2023) MERRF mutation A8344G in a four-generation family without central nervous system involvement: clinical and molecular characterization Journal of Personalized Medicine . 13 (1): 147 . |
| 143 | 36744444 | 2023 | Giege, R., Eriani, G. (2023) The tRNA identity landscape for aminoacylation and beyond Nucleic Acids Research . 51 (4): 1528-1570 . |
| 144 | 36928678 | 2023 | Tomoda, E., Nagao, A., Shirai, Y., Asano, K., Suzuki, T., Battersby, B. J., Suzuki, T. (2023) Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases Nucleic Acids Research . 51 (14): 7563-7569 . |
| 145 | 37038312 | 2023 | Ardissone, A., Ferrera, G., Lamperti, C., Tiranti, V., Ghezzi, D., Moroni, I., Lamantea, E. (2023) Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients European Journal of Neurology . 30 (7): 2079-2091 . |
| 146 | 37439868 | 2023 | Ji, D., Zhang, N., Zou, W., Zhang, Z., Marley, J. L., Liu, Z., Liang, C., Shen, L., Liu, Y., Liang, D., Su, T., Du, Y., Cao, Y. (2023) Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success Journal of Assisted Reproduction and Genetics . 40 (9): 2185-2196 . |
| 147 | 37737178 | 2023 | Chen, C., Guan, M. X. (2023) Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations Journal of Biomedical Science . 30 (1): 82 . |
| 148 | NA | 2024 | Franco, P., Patrocinio, M., Riquetto, A., Santomauro, A., Gomes, L., Teles, M. (2024) Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA Archives of Endocrinology and Metabolism . 68 (): e230084 . |
| 149 | 37988592 | 2024 | Cannon, S. J., Hall, T., Hawkes, G., Colclough, K., Boggan, R. M., Wright, C. F., Pickett, S. J., Hattersley, A. T., Weedon, M. N., Patel, K. A. (2024) Penetrance and expressivity of mitochondrial variants in a large clinically unselected population Human Molecular Genetics . 33 (5): 465-474 . |
| 150 | 38465286 | 2024 | Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 . |