Index | PMID | Date | Reference |
---|---|---|---|
1 | 2903249 | 1988 | Poulton, J., Turnbull, D. M., Mehta, A. B., Wilson, J., Gardiner, R. M. (1988) Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy Journal of Medical Genetics . 25 (9): 600-605 . |
2 | 1670860 | 1990 | Ino, H., Tanaka, M., Ohno, K., Hattori, K., Ikebe, S., Sano, T., Ozawa, T., Ichiki, T., Kobayashi, M., Wada, Y. (1990) Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy Lancet . 337 (8735): 234-235 . |
3 | 2102678 | 1990 | Goto, Y., Nonaka, I., Horai, S. (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature . 348 (6302): 651-653 . |
4 | 2268345 | 1990 | Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y., Ohta, S. (1990) A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) Biochemical and Biophysical Research Communications . 173 (3): 816-822 . |
5 | 1673015 | 1991 | Johns, D. R., Hurko, O. (1991) Mitochondrial leucine tRNA mutation in neurological diseases Lancet . 337 (8746): 927-928 . |
6 | 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 . |
7 | 1684568 | 1991 | Enter, C., Muller-Hocker, J., Zierz, S., Kurlemann, G., Pongratz, D., Forster, C., Obermaier-Kusser, B., Gerbitz, K. D. (1991) A specific point mutation in the mitochondrial genome of Caucasians with MELAS Human Genetics . 88 (2): 233-266 . |
8 | 1713858 | 1991 | Obermaier-Kusser, B., Paetzke-Brunner, I., Enter, C., Muller-Hocker, J., Zierz, S., Ruitenbeek, W., Gerbitz, K.-D. (1991) Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome (tRNALeu(UUR)) FEBS Letters . 286 (40545): 67-70 . |
9 | 1715668 | 1991 | Kobayashi, Y., Momoi, M. Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y., Ohta, S. (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) American Journal of Human Genetics . 49 (3): 590-599 . |
10 | 1755869 | 1991 | Hess, J. F., Parisi, M. A., Bennett, J. L., Clayton, D. A. (1991) Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature . 351 (6323): 236-239 . |
11 | 1899574 | 1991 | Tanaka, M., Ino, H., Ohno, K., Ohbayashi, T., Ikebe, S., Sano, T., Ichiki, T., Kobayashi, M., Wada, Y., Ozawa, T. (1991) Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Biochemical and Biophysical Research Communications . 174 (2): 861-868 . |
12 | 1922812 | 1991 | Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A., DiMauro, S. (1991) Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome Neurology . 41 (10): 1663-1665 . |
13 | 1284550 | 1992 | van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., Maassen, J. A. (1992) Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness Nature Genetics . 1 (5): 368-371 . |
14 | 1315123 | 1992 | Moraes, C.T., Ricci, E., Bonilla, E., DiMauro, S., Schon, E.A. (1992) The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle American Journal of Human Genetics . 50 (5): 934-949 . |
15 | 1370535 | 1992 | Inui, K., Fukushima, H., Tsukamoto, H., Taniike, M., Midorikawa, M., Tanaka, J., Nishigaki, T., Okada, S. (1992) Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene Journal of Pediatrics . 120 (1): 62-66 . |
16 | 1378759 | 1992 | Schon, E.A., Koga, Y., Davidson, M., Moraes, C.T., King, M.P. (1992) The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis Biochimica et Biophysica Acta . 1101 (2): 206-209 . |
17 | 1405464 | 1992 | Inui, K., Tsukamoto, H., Fukushima, H., Taniike, M., Tanaka, J., Nishigaki, T., Okada, S. (1992) Detection of the A to G (3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalmyopathies Journal of Inherited Metabolic Disease . 15 (3): 311-314 . |
18 | 1433821 | 1992 | Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S., Ozawa, T. (1992) Mitochondrial DNA mutations in cardiomyopathy Japanese Circulation Journal . 56 (10): 1045-1053 . |
19 | 1434520 | 1992 | Miyabayashi, S., Hanamizu, H., Nakamura, R., Endo, H., Tada, K. (1992) Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts Journal of Inherited Metabolic Disease . 15 (5): 797-802 . |
20 | 1434521 | 1992 | Kobayashi, Y., Ichihashi, K., Ohta, S., Nihei, K., Kagawa, Y., Yanagisawa, M., Momoi, M.Y. (1992) The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations Journal of Inherited Metabolic Disease . 15 (5): 803-808 . |
21 | 1436526 | 1992 | Penn, A.M.W., Lee, J.W.K., Thuillier, P., Wagner, M., Maclure, K.M., Menard, M.R., Hall, L.D., Kennaway, N.G. (1992) MELAS syndrome with mitochondrial tRNALeu(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin Neurology . 42 (11): 2147-2152 . |
22 | 1442494 | 1992 | Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 . |
23 | 1463007 | 1992 | Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 . |
24 | 1539604 | 1992 | Sato, W., Hayasaka, K., Komatsu, K., Sawaishi, Y., Sakemi, K., Shoji, Y., Takada, G. (1992) Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) American Journal of Human Genetics . 50 (3): 655-657 . |
25 | 1549215 | 1992 | Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M., Nonaka, I. (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation Neurology . 42 (3 Pt 1): 545-550 . |
26 | 1584755 | 1992 | Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C., Attardi, G. (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts Proceedings of the National Academy of Sciences of the United States of America . 89 (10): 4221-4225 . |
27 | 1586140 | 1992 | Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C.T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, M.A., Garcia, C., Martinuzzi, A., Moxewich, R., Servidei, S., Zammarchi, E., Bonilla, E., Rowland, L.P., Schon, E.A., DiMauro, S. (1992) MELAS: clinical features, biochemistry, and molecular genetics Annals of Neurology . 31 (4): 391-398 . |
28 | 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 . |
29 | 1732728 | 1992 | King, M. P., Koga, Y., Davidson, M., Schon, E. A. (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Molecular and Cellular Biology . 12 (2): 480-490 . |
30 | 7680123 | 1993 | Koga, Y., Davidson, M., Schon, E.A., King, M.P. (1993) Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS Nucleic Acids Research . 21 (3): 657-662 . |
31 | 7684581 | 1993 | Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., Araki, S. (1993) Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 33 (3): 275-280 . |
32 | 7689068 | 1993 | Poulton, J. (1993) Mitochondrial DNA and genetic disease Developmental Medicine and Child Neurology (London) . 35 (9): 833-840 . |
33 | 8129854 | 1993 | Munscher, C., Muller-Hocker, J., Kadenbach, B. (1993) Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA Biological Chemistry Hoppe Seyler . 374 (12): 1099-1104 . |
34 | 8138807 | 1993 | Shiraiwa, N., Ishii, A., Iwamoto, H., Mizusawa, H., Kagawa, Y., Ohta, S. (1993) Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies Journal of the Neurological Sciences . 120 (2): 174-179 . |
35 | 8255441 | 1993 | Johns, D. R., Stein, A. G., Wityk, R. (1993) MELAS syndrome masquerading as herpes simplex encephalitis Neurology . 43 (12): 2471-2473 . |
36 | 8326463 | 1993 | Love, S., Nicoll, J.A.R., Kinrade, E. (1993) Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS Journal of Pathology . 170 (1): 9-14 . |
37 | 8356881 | 1993 | Chen, R. S., Huang, C. C., Lee, C. C., Wai, Y. Y., Hsi, M. S., Pang, C. Y., Wei, Y. H. (1993) Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies Acta Neurologica Scandinavica . 87 (6): 494-498 . |
38 | 8363452 | 1993 | Fang, W., Huang, C.C., Lee, C.C., Cheng, S.Y., Pang, C.Y., Wei, Y.H. (1993) Ophthalmologic manifestations in MELAS syndrome Archives of Neurology . 50 (9): 977-980 . |
39 | 8363469 | 1993 | Chang, T.S., Johns, D.R., Walker, D., de la Cruz, Z., Maumence, I.H., Green, W.R. (1993) Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes Archives of Ophthalmology . 111 (9): 1254-1262 . |
40 | 8373389 | 1993 | Zhang, C., Linnane, A.W., Nagley, P. (1993) Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans Biochemical and Biophysical Research Communications . 195 (2): 1104-1110 . |
41 | 8392410 | 1993 | Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., DiMauro, S. (1993) Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA Neuromuscular Disorders . 3 (1): 43-50 . |
42 | 8442706 | 1993 | Mosewich, R. K., Donat, J. R., DiMauro, S., Ciafaloni, E., Shanske, S., Erasmus, M., George, D. (1993) The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke Archives of Neurology . 50 (3): 275-278 . |
43 | 8477849 | 1993 | Gerbitz, K.D., Paprotta, A., Jaksch, M., Zierz, S., Drechsel, J. (1993) Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene FEBS Letters . 321 (40577): 194-196 . |
44 | 8482977 | 1993 | Sakuta, R., Goto, Y., Horai, S., Nonaka, I. (1993) Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study Journal of the Neurological Sciences . 115 (2): 158-160 . |
45 | 8487499 | 1993 | Shoji, Y., Sato, W., Hayasaka, K., Takada, G. (1993) Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) Journal of Inherited Metabolic Disease . 16 (1): 27-30 . |
46 | 8517674 | 1993 | Poulton, J., Morten, K. (1993) Noninvasive diagnosis of the MELAS syndrome from blood DNA Annals of Neurology . 34 (1): 116 . |
47 | 8518790 | 1993 | Suomalainen, A., Majander, A., Pihko, H., Peltonen, L., Syvanen, A.C. (1993) Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription Human Molecular Genetics . 2 (-): 525-534 . |
48 | 7910800 | 1994 | van den Ouweland, J. M., Lemkes, H. H., Trembath, R. C., Ross, R., Velho, G., Cohen, D., Froguel, P., Maassen, J. A. (1994) Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNALeu(UUR) gene Diabetes . 43 (6): 746-751 . |
49 | 7912129 | 1994 | Petruzzella, V., Moraes, C.T., Sano, M.C., Bonilla, E., DiMauro, S., Schon, E.A. (1994) Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243 Human Molecular Genetics . 3 (3): 449-454 . |
50 | 7965431 | 1994 | Dougherty, F.E., Ernst, S.G., Aprille, J.R. (1994) Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) Journal of Pediatrics . 125 (5 Pt 1): 758-761 . |
51 | 8042948 | 1994 | Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S., Byrne, E. (1994) Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies Australian and New Zealand Journal of Medicine . 24 (2): 188-193 . |
52 | 8063037 | 1994 | Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E., Barnett, A. H. (1994) Mitochondrial gene defects in patients with NIDDM Diabetologia . 37 (4): 372-376 . |
53 | 8122891 | 1994 | Degoul, F., Diry, M., Pou-Serradell, A., Lloreta, J., Marsac, C. (1994) Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation Annals of Neurology . 35 (3): 365-370 . |
54 | 8122892 | 1994 | Kawakami, Y., Sakuta, R., Hashimoto, K., Fujino, O., Fujita, T., Hida, M., Horai, S., Goto, Y., Nonaka, I. (1994) Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes Annals of Neurology . 35 (3): 370-373 . |
55 | 8151636 | 1994 | Matthews, P.M., Hopkin, J., Brown, R.M., Stephenson, J.B., Hilton-Jones, D., Brown, G.K. (1994) Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adult and fetal tissues Journal of Medical Genetics . 31 (1): 41-44 . |
56 | 8154867 | 1994 | Tokunaga, M., Mita, S., Murakami, T., Kumamoto, T., Uchino, M., Nonaka, I.,o, M. (1994) Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 35 (4): 413-419 . |
57 | 8201329 | 1994 | Huang, C. C., Chen, R.S., Chen, C.M., Wang, H.S., Lee, C.C., Pang, C.Y., Hsu, H.S., Lee, H.C., Wei, Y.H. (1994) MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family Journal of Neurology, Neurosurgery and Psychiatry . 57 (5): 586-589 . |
58 | 7473662 | 1995 | Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J. D., Royer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J. P., Largilliere, C., Lombes, A., Bonnefont, J. P. (1995) Point mutation of the mitochondrial tRNALeu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness Journal of Medical Genetics . 32 (8): 654-656 . |
59 | 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 . |
60 | 7599199 | 1995 | Morgan-Hughes, J.A., Sweeney, M.G., Cooper, J.M., Hammans, S.R., Brockington, M., Schapira, A.H., Harding, A.E., Clark, J.B. (1995) Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype Biochimica et Biophysica Acta . 1271 (1): 135-140 . |
61 | 7599217 | 1995 | Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 . |
62 | 7600089 | 1995 | Hammans, S. R., Sweeney, M. G., Hanna, M. G., Brockington, M., Morgan-Hughes, J. A., Harding, A. E. (1995) The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study Brain . 118 (Pt 3): 721-734 . |
63 | 7603513 | 1995 | van den Ouweland, J.M., Lemkes, H.H., Gerbitz, K.D., Maassen, J.A. (1995) Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation Muscle and Nerve . 3 (30): S124-130 . |
64 | 7603515 | 1995 | Kadowaki, T., Sakura, H., Otabe, S., Yasuda, K., Kadowaki, H., Mori, Y., Hagura, R., Akanuma, Y., Yazaki, Y. (1995) A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene Muscle and Nerve . 3 (41): S137-S141 . |
65 | 7625445 | 1995 | Sepehrnia, B., Prezant, T.R., Rotter, J.I., Pettitt, D.J., Knowler, W.C., Fischel-Ghodsian, N. (1995) Screening for mtDNA diabetes mutations in Pima Indians with NIDDM American Journal of Medical Genetics . 56 (2): 198-202 . |
66 | 7639309 | 1995 | Massin, P., Guillausseau, P. J., Vialettes, B., Paquis, V., Orsini, F., Grimaldi, A. D., Gaudric, A. (1995) Macular pattern dystrophy associated with a mutation of mitochondrial DNA American Journal of Ophthalmology . 120 (2): 247-248 . |
67 | 7714102 | 1995 | Odawara, M., Sasaki, K., Yamashita, K. (1995) Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene Journal of Clinical Endocrinology and Metabolism . 80 (4): 1290-1294 . |
68 | 7732778 | 1995 | Campos, Y., Bautista, J., Gutierrez-Rivas, E., Chinchon, D., Cabello, A., Segura, D., Arenas, J. (1995) Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA Acta Neurologica Scandinavica . 91 (1): 62-65 . |
69 | 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 . |
70 | 7743754 | 1995 | Alcolado, J. C., Thomas, A. W. (1995) Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects Diabetic Medicine . 12 (2): 102-108 . |
71 | 8544626 | 1996 | Oshima, T., Ueda, N., Ikeda, K., Abe, K., Takasaka, T. (1996) Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome Laryngoscope . 106 (1 Pt 1): 43-48 . |
72 | 8559168 | 1996 | Campos, Y., Martin, M. A., Lorenzo, G., Aparicio, M., Cabello, A., Arenas, J. (1996) Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA Muscle and Nerve . 19 (2): 187-190 . |
73 | 8676159 | 1996 | Fabrizi, G. M., Cardaioli, E., Grieco, G. S., Cavallaro, T., Malandrini, A., Manneschi, L., Dotti, M. T., Federico, A., Guazzi, G. (1996) The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome Journal of Neurology, Neurosurgery and Psychiatry . 61 (1): 47-51 |
74 | 8712800 | 1996 | Kahn, C. R., Vicent, D., Doria, A. (1996) Genetics of non-insulin-dependent (type-II) diabetes mellitus Annual Review of Medicine . 47 (-): 509-531 . |
75 | 8723071 | 1996 | Damian, M.S., Seibel, P., Schachenmayr, W., Reichmann, H., Dorndorf, W. (1996) VACTERL with the mitochondrial np 3243 point mutation American Journal of Medical Genetics . 62 (4): 398-403 . |
76 | 8723687 | 1996 | Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S., Gerbitz, K. D. (1996) A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus Human Mutation . 7 (4): 358-360 . |
77 | 8728705 | 1996 | Thomas, A.W., Edwards, A., Sherratt, E.J., Majid, A., Gagg, J., Alcolado, J.C. (1996) Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus Journal of Medical Genetics . 33 (3): 253-256 . |
78 | 8751860 | 1996 | Pallotti, F., Chen, X., Bonilla, E., Schon, E. A. (1996) Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging American Journal of Human Genetics . 59 (3): 591-602 . |
79 | 8773598 | 1996 | Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M.P., Schon, E.A. (1996) Mitochondrial DNA and RNA processing in MELAS Annals of Neurology . 40 (2): 172-180 . |
80 | 8777986 | 1996 | Maassen, J. A., Kadowaki, T. (1996) Maternally inherited diabetes and deafness: a new diabetes subtype Diabetologia . 39 (4): 375-382 . |
81 | 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 . |
82 | 8829651 | 1996 | tHart, L. M., Jansen, J. J., Lemkes, H. H., de Knijff, P., Maassen, J. A. (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging Human Mutation . 7 (3): 193-197 . |
83 | 9024220 | 1997 | Lee, H.C., Song, Y.D., Li, H.R., Park, J.O., Suh, H.C., Lee, E., Lim, S., Kim, K., Huh, K. (1997) Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea Journal of Clinical Endocrinology and Metabolism . 82 (2): 372-374 . |
84 | 9073028 | 1997 | Suzuki, Y., Goto, Y., Taniyama, M., Nonaka, I., Murakami, N., Hosokawa, K., Asahina, T., Atsumi, Y., Matsuoka, K. (1997) Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243 Journal of the Neurological Sciences . 145 (1): 49-53 . |
85 | 9105898 | 1997 | Maassen, J.A., van den Ouweland, J.M., tHart, L.M., Lemkes, H.H. (1997) Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA Hormone and Metabolic Research . 29 (2): 50-55 . |
86 | 9146825 | 1997 | Onishi, H., Kawanishi, C., Iwasawa, T., Osaka, H., Hanihara, T., Inoue, K., Yamada, Y., Kosaka, K. (1997) Depressive disorder due to mitochondrial transfer RNALeu(UUR) mutation Biological Psychiatry . 41 (11): 1137-1139 . |
87 | 9149827 | 1997 | Sawada, S., Takeda, T., Kakigi, A., Saito, H., Suehiro, T., Nakauchi, Y., Chikamori, K. (1997) Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA American Journal of Otology . 18 (3): 332-335 . |
88 | 9196933 | 1997 | Bonte, C.A., Matthijs, G.L., Cassiman, J.J., Leys, A.M. (1997) Macular pattern dystrophy in patients with deafness and diabetes Retina . 17 (3): 216-221 . |
89 | 9212310 | 1997 | Newkirk, J.E., Taylor, R.W., Howell, N., Bindoff, L.A., Chinnery, P.F., Alberti, K.G., Turnbull, D.M., Walker, M. (1997) Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population Diabetic Medicine . 14 (6): 457-460 . |
90 | 9219161 | 1997 | Jansen, J.J., Maassen, J.A., van der Woude, F.J., Lemmink, H.A., van den Ouweland, J.M., tHart, L.M., Smeets, H.J., Bruijn, J.A., Lemkes, H.H. (1997) Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease Journal of the American Society of Nephrology . 8 (7): 1118-1124 . |
91 | 9222976 | 1997 | Vilarinho, L., Santorelli, F.M., Rosas, M.J., Tavares, C., Melo-Pires, M., DiMauro, S. (1997) The mitochondrial A3243G mutation presenting as severe cardiomyopathy Journal of Medical Genetics . 34 (7): 607-609 . |
92 | 9225833 | 1997 | Fukui, M., Nakano, K., Obayashi, H., Kitagawa, Y., Nakamura, N., Mori, H., Kajiyama, S., Wada, S., Fujii, M., Yoshimori, K., Kanaitsuka, T., Shigeta, H., Kondo, M. (1997) High prevalence of mitochondrial diabetes mellitus in Japanese patients with major risk factors Metabolism: Clinical and Experimental . 46 (7): 793-795 . |
93 | 9262546 | 1997 | Harrison, T.J., Boles, R.G., Johnson, D.R., LeBlond, C., Wong, L.J. (1997) Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy American Journal of Ophthalmology . 124 (2): 217-221 . |
94 | 9266470 | 1997 | Arai, M., Ohshima, S. (1997) Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation Journal of Neurology . 244 (7): 468-469 . |
95 | 9323566 | 1997 | Vilarinho, L., Maia, C., Coelho, T., Coutinho, P., Santorelli, F.M. (1997) Heterogeneous presentation in Leigh syndrome Journal of Inherited Metabolic Disease . 20 (5): 704-705 . |
96 | 9341162 | 1997 | Flierl, A., Reichmann, H., Seibel, P. (1997) Pathophysiology of the MELAS 3243 transition mutation Journal of Biological Chemistry . 272 (43): 27189-27196 . |
97 | 9353617 | 1997 | Vialettes, B. H., Paquis-Flucklinger, V., Pelissier, J. F., Bendahan, D., Narbonne, H., Silvestre-Aillaud, P., Montfort, M. F., Righini-Chossegros, M., Pouget, J., Cozzone, P. J., Desnuelle, C. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report Diabetes Care . 20 (11): 1731-1737 . |
98 | 9353631 | 1997 | Fukunaga, Y., Azuma, N., Koshiyama, H., Inoue, D., Sato, H., Yoshimasa, Y., Nakao, K. (1997) Mitochondrial DNA 3243 mutation is infrequent in Japanese diabetic patients with auditory disturbance Diabetes Care . 20 (11): 1800-1803 . |
99 | 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 . |
100 | 9386859 | 1997 | Inagaki, T., Ishino, H., Seno, H., Ohguni, S., Tanaka, J., Kato, Y. (1997) Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA Biological Psychiatry . 42 (11): 1067-1069 . |
101 | 9455929 | 1997 | Smith, P.R., Dronsfield, M.J., Mijovic, C.H., Hattersley, A.T., Yeung, V.T., Cockram, C., Chan, J.C., Barnett, A.H., Bain, S.C. (1997) The mitochondrial tRNA[Leu(UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population Diabetic Medicine . 14 (12): 1026-1031 . |
102 | 9455930 | 1997 | Tsukuda, K., Suzuki, Y., Kameoka, K., Osawa, N., Goto, Y., Katagiri, H., Asano, T., Yazaki, Y., Oka, Y. (1997) Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region Diabetic Medicine . 14 (12): 1032-1037 . |
103 | 9772417 | 1997 | Guo, Y., Guo, Z., Chen, L., Zhang, J., Wang, W., Liu, X., Ren, H., Gao, S. (1997) Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Chinese Medical Journal . 110 (11): 851-855 . |
104 | 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 . |
105 | 9437322 | 1998 | Souied, E.H., Sales, M.J., Soubrane, G., Coscas, G., Bigorie, B., Kaplan, J., Munnich, A., Rotig, A. (1998) Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion American Journal of Ophthalmology . 125 (1): 100-103 . |
106 | 9537417 | 1998 | El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G., Dunbar, D., Holt, I.J., Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria Nature Genetics . 18 (4): 350-353 . |
107 | 9541116 | 1998 | Onishi, H., Hanihara, T., Sugiyama, N., Kawanishi, C., Iseki, E., Maruyama, Y., Yamada, Y., Kosaka, K., Yagishita, S., Sekihara, H., Satoh, S. (1998) Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation Journal of Medical Genetics . 35 (3): 255-257 . |
108 | 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 . |
109 | 9598702 | 1998 | Thomeer, E. C., Verhoeven, W. M., van de Vlasakker, C. J., Klompenhouwer, J. L. (1998) Psychiatric symptoms in MELAS; a case report Journal of Neurology, Neurosurgery and Psychiatry . 64 (5): 692-693 . |
110 | 9619647 | 1998 | Wilichowski, E., Korenke, G.C., Ruitenbeek, W., De Meirleir, L., Hagendorff, A., Janssen, A.J., Lissens, W., Hanefeld, F. (1998) Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation Journal of the Neurological Sciences . 157 (2): 206-213 . |
111 | 9625453 | 1998 | Shin, C.S., Kim, S.K., Park, K.S., Kim, W.B., Kim, S.Y., Cho, B.Y., Lee, H.K., Koh, C.S., Shin, C.H., Lee, J.B. (1998) A new point mutation (3426, A to G) in mitochondrial NADH dehydrogenase gene in Korean diabetic patients which mimics 3243 mutation by restriction fragment length polymorphism pattern Endocrine Journal . 45 (1): 105-110 . |
112 | 9628277 | 1998 | Suzuki, S., Hinokio, Y., Ohtomo, M., Hirai, M., Hirai, A., Chiba, M., Kasuga, S., Satoh, Y., Akai, H., Toyota, T. (1998) The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation Diabetologia . 41 (5): 584-588 . |
113 | 9633820 | 1998 | Olsson, C., Zethelius, B., Lagerstrom-Fermer, M., Asplund, J., Berne, C., Landegren, U. (1998) Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness Human Mutation . 12 (1): 52-58 . |
114 | 9683591 | 1998 | Majamaa, K., Moilanen, J.S., Uimonen, S., Remes, A.M., Salmela, P.I., Karppa, M., Majamaa-Voltti, K.A., Rusanen, H., Sorri, M., Peuhkurinen, K.J., Hassinen, I.E. (1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population American Journal of Human Genetics . 63 (2): 447-454 . |
115 | 9708761 | 1998 | Majamaa, K., Finnila, S., Turkka, J., Hassinen, I. E. (1998) Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine Lancet . 352 (9126): 455-456 . |
116 | 9741403 | 1998 | Ozawa, M., Nonaka, I., Goto, Y. (1998) Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome Journal of the Neurological Sciences . 159 (2): 170-175 . |
117 | 9744809 | 1998 | Rossmanith, W. and Karwan, R. M. (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases FEBS Letters . 433 (3): 269-274 . |
118 | 9748738 | 1998 | Stratilova, L., Zeman, J., Hansikova, H., Houstek, J., Hermanska, J., Dudkova, Z., Konradova, V., Hulkova, H., Elleder, M. (1998) [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA] Casopis Lekaru Ceskych . 137 (14): 430-433 . |
119 | 9761239 | 1998 | Urata, M., Wakiyama, M., Iwase, M., Yoneda, M., Kinoshita, S., Hamasaki, N., Kang, D. (1998) New sensitive method for the detection of the A3243G mutation of human mitochondrial deoxyribonucleic acid in diabetes mellitus patients by ligation-mediated polymerase chain reaction Clinical Chemistry . 44 (10): 2088-2093 . |
120 | 9778452 | 1998 | Nigou, M., Parfait, B., Clauser, E., Olivier, J.L. (1998) Detection and quantification of the A3243G mutation of mitochondrial DNA by ligation detection reaction Molecular and Cellular Probes . 12 (5): 273-282 . |
121 | 9780603 | 1998 | Chen, J.N., Ho, K.Y., Juan, K.H. (1998) Sensorineural hearing loss in MELAS syndrome--case report Kao-Hsiung i Hsueh Ko Hsueh Tsa Chih [Kaohsiung Journal of Medical Sciences] . 14 (8): 519-523 . |
122 | 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 . |
123 | 9822126 | 1998 | Prayson, R.A., Wang, N. (1998) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report Archives of Pathology and Laboratory Medicine . 122 (11): 978-981 . |
124 | 9828917 | 1998 | Huang, C. N., Jee, S. H., Hwang, J. J., Kuo, Y. F., Chuang, L. M. (1998) Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNA(Leu(UUR)) mutation Clinical Endocrinology . 49 (2): 265-270 . |
125 | 9830283 | 1998 | Yang, C.C., Hwang, C.C., Pang, C.Y., Wei, Y.H. (1998) Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene Journal of the Formosan Medical Association . 97 (10): 715-719 . |
126 | 9831303 | 1998 | Thorns, C., Widjaja, A., Boeck, N., Skamira, C., Zuhlke, H. (1998) Maternally-inherited diabetes and deafness: report of two affected German families with the A3243G mitochondrial DNA mutation Experimental and Clinical Endocrinology and Diabetes . 106 (5): 384-388 . |
127 | 9845835 | 1998 | Kurogouchi, F., Oguchi, T., Mawatari, E., Yamaura, S., Hora, K., Takei, M., Sekijima, Y., Ikeda, S., Kiyosawa, K. (1998) A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation American Journal of Nephrology . 18 (6): 551-556 . |
128 | 9884447 | 1998 | Liu, A.M., Mak, S.C., Tsai, C.R., Chi, C.S. (1998) Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal . 61 (12): 730-735 . |
129 | 9889270 | 1999 | Helm, M., Florentz, C., Chomyn, A., Attardi, G. (1999) Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR) Nucleic Acids Research . 27 (3): 756-763 . |
130 | 10025431 | 1999 | Sharfstein, S. R., Gordon, M. F., Libman, R. B., Malkin, E. S. (1999) Adult-onset MELAS presenting as herpes encephalitis Archives of Neurology . 56 (2): 241-243 . |
131 | 10100521 | 1999 | Rosenthal, E. L., Kileny, P. R., Boerst, A., Telian, S. A. (1999) Successful cochlear implantation in a patient with MELAS syndrome American Journal of Otology . 20 (2): 187-190; discussion 190-191 . |
132 | 10220138 | 1999 | Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 . |
133 | 10366077 | 1999 | Smith, P. R., Bain, S. C., Good, P. A., Hattersley, A. T., Barnett, A. H., Gibson, J. M., Dodson, P. M. (1999) Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation Ophthalmology . 106 (6): 1101-1108 . |
134 | 10399093 | 1999 | Saitoh, S., Momoi, M.Y., Yamagata, T., Nakauchi, H., Nihei, K., Fujii, M. (1999) Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation Journal of Inherited Metabolic Disease . 22 (5): 608-614 . |
135 | 10407850 | 1999 | Deschauer, M., Wieser, T., Neudecker, S., Lindner, A., Zierz, S. (1999) Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness Neuromuscular Disorders . 9 (5): 305-307 . |
136 | 10424809 | 1999 | Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 . |
137 | 10452273 | 1999 | Cheong, H. I., Chae, J. H., Kim, J. S., Park, H. W., Ha, I. S., Hwang, Y. S., Lee, H. S., Choi, Y. (1999) Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation Pediatric Nephrology . 13 (6): 477-480 . |
138 | 10462141 | 1999 | Nakamura, S., Yoshinari, M., Doi, Y., Yoshizumi, H., Katafuchi, R., Yokomizo, Y., Nishiyama, K., Wakisaka, M., Fujishima, M. (1999) Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA Diabetes Research and Clinical Practice . 44 (3): 183-189 . |
139 | 10514449 | 1999 | Janssen, G. M., Maassen, J. A., van Den Ouweland, J. M. (1999) The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate Journal of Biological Chemistry . 274 (42): 29744-29748 . |
140 | 10525672 | 1999 | Isotani, H., Kameoka, K., Nagano, Y., Kitaoka, H., Ohsawa, N. (1999) Characteristic neuroimaging findings in patients with diabetes and the 8296 mitochondrial tRNA(Lys) Diabetologia . 42 (10): 1266-1267 . |
141 | 10636741 | 1999 | Odawara, M., Maki, H., Yamada, N. (1999) Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement Journal of Medical Genetics . 36 (12): 934-935 . |
142 | 10890789 | 1999 | Oshima, T., Ueda, N., Ikeda, K., Abe, K., Takasaka, T. (1999) Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan Laryngoscope . 109 (2 Pt 1): 334-338 . |
143 | 10611123 | 2000 | Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M., Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects Brain . 123 (Pt 1): 82-92 . |
144 | 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 . |
145 | 10633132 | 2000 | Usami, S., Abe, S., Akita, J., Namba, A., Shinkawa, H., Ishii, M., Iwasaki, S., Hoshino, T., Ito, J., Doi, K., Kubo, T., Nakagawa, T., Komiyama, S., Tono, T., Komune, S. (2000) Prevalence of mitochondrial gene mutations among hearing impaired patients Journal of Medical Genetics . 37 (1): 38-40 . |
146 | 10645055 | 2000 | Thajeb, P., Lee, H. C., Pang, C. Y., Jeng, C. M., Huang, S. F., Wei, Y. H. (2000) Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA Zhonghua Yi Xue Za Zhi (Taipei) . 63 (1): 71-6 . |
147 | 10665488 | 2000 | Dubeau, F., De Stefano, N., Zifkin, B. G., Arnold, D. L., Shoubridge, E. A. (2000) Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree Annals of Neurology . 47 (2): 179-185 . |
148 | 10699115 | 2000 | Uusimaa, J., Remes, A. M., Rantala, H., Vainionpaa, L., Herva, R., Vuopala, K., Nuutinen, M., Majamaa, K., Hassinen, I. E. (2000) Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders Pediatrics . 105 (3 Pt 1): 598-603 . |
149 | 10699169 | 2000 | Jacobs, H. T., Holt, I. J. (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't Human Molecular Genetics . 9 (4): 463-465 . |
150 | 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 . |
151 | 10716261 | 2000 | Chinnery, P. F., Taylor, D. J., Brown, D. T., Manners, D., Styles, P., Lodi, R. (2000) Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo Annals of Neurology . 47 (3): 381-384 . |
152 | 10854117 | 2000 | Lehtonen, M. S., Uimonen, S., Hassinen, I. E., Majamaa, K. (2000) Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment European Journal of Human Genetics . 8 (4): 315-318 . |
153 | 10858457 | 2000 | Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P., Attardi, G. (2000) The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes Journal of Biological Chemistry . 275 (25): 19198-19209 . |
154 | 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 . |
155 | 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 . |
156 | 11044204 | 2000 | Doleris, L. M., Hill, G. S., Chedin, P., Nochy, D., Bellanne-Chantelot, C., Hanslik, T., Bedrossian, J., Caillat-Zucman, S., Cahen-Varsaux, J., Bariety, J. (2000) Focal segmental glomerulosclerosis associated with mitochondrial cytopathy Kidney International . 58 (5): 1851-1858 . |
157 | 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 . |
158 | 11145497 | 2000 | Pulkes, T., Sweeney, M. G., Hanna, M. G. (2000) Increased risk of stroke in patients with the A12308G polymorphism in mitochondria Lancet . 356 (9247): 2068-2069 . |
159 | 11215518 | 2000 | Hutchin, T. P., Cortopassi, G. A. (2000) Mitochondrial defects and hearing loss Cellular and Molecular Life Sciences . 57 (13-14): 1927-1937 |
160 | 11085913 | 2001 | Rahman, S., Poulton, J., Marchington, D., Suomalainen, A. (2001) Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study American Journal of Human Genetics . 68 (1): 238-240 . |
161 | 11175302 | 2001 | Moilanen, J. S., Majamaa, K. (2001) Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G European Journal of Human Genetics . 9 (1): 59-62 . |
162 | 11241464 | 2001 | De Kremer, R. D., Paschini-Capra, A., Bacman, S., Argarana, C., Civallero, G., Kelley, R. I., Guelbert, N., Latini, A., de Halac, I. N., Giner-Ayala, A., Johnston, J., Proujansky, R., Gonzalez, I., Depetris-Boldini, C., Oller-Ramirez, A., Angaroni, C., Theaux, R. A., Hliba, E., Juaneda, E. (2001) Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation) American Journal of Medical Genetics . 99 (2): 83-93 . |
163 | 11260383 | 2001 | Hotta, O., Inoue, C. N., Miyabayashi, S., Furuta, T., Takeuchi, A., Taguma, Y. (2001) Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation Kidney International . 59 (4): 1236-1243 . |
164 | 11331900 | 2001 | Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 . |
165 | 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 . |
166 | 11393411 | 2001 | Higashikata, T., Koyama, J., Shimada, H., Yazaki, M., Owa, M., Ikeda, S. (2001) An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom Internal Medicine (Tokyo) . 40 (5): 405-408 . |
167 | 11472454 | 2001 | Gill-Randall, R., Sherratt, E. J., Thomas, A. W., Gagg, J. W., Lee, A., Alcolado, J. C. (2001) Analysis of a polycytosine tract and heteroplasmic length variation in the mitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controls Diabetic Medicine . 18 (5): 413-416 . |
168 | 11488279 | 2001 | Hill, D., Wintersgill, S., Stott, L., Cadge, B., Graham, J. (2001) Cochlear implantation in a profoundly deaf patient with MELAS syndrome Journal of Neurology, Neurosurgery, and Psychiatry . 71 (2): 281 . |
169 | 11507652 | 2001 | Klemm, T., Neumann, S., Trulzsch, B., Pistrosch, F., Hanefeld, M., Paschke, R. (2001) Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus Experimental and Clinical Endocrinology and Diabetes . 109 (5): 283-287 . |
170 | 11700163 | 2001 | Spellberg, B., Carroll, R. M., Robinson, E., Brass, E. (2001) mtDNA disease in the primary care setting Archives of Internal Medicine . 161 (20): 2497-2500 . |
171 | 11708999 | 2001 | Deschauer, M., Muller, T., Wieser, T., Schulte-Mattler, W., Kornhuber, M., Zierz, S. (2001) Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation Archives of Neurology . 58 (11): 1885-1888 . |
172 | 11733107 | 2001 | Ji, L., Hou, X., Han, X. (2001) Prevalence and clinical characteristics of mitochondrial tRNAleu(UUR) nt 3243 A-->G and nt 3316 G-->A mutations in Chinese patients with type 2 diabetes Diabetes Research and Clinical Practice . 54 (Suppl 2): S35-S38 . |
173 | 11742413 | 2001 | Maechler, P., Wollheim, C. B. (2001) Mitochondrial function in normal and diabetic beta-cells Nature . 414 (6865): 807-812 . |
174 | 16120283 | 2001 | Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 . |
175 | 11874423 | 2002 | Alcolado, J. C., Laji, K., Gill-Randall, R. (2002) Maternal transmission of diabetes Diabetic Medicine . 19 (2): 89-98 . |
176 | 11889254 | 2002 | Koga, Y., Ishibashi, M., Ueki, I., Yatsuga, S., Fukiyama, R., Akita, Y., Matsuishi, T. (2002) Effects of L-arginine on the acute phase of strokes in three patients with MELAS Neurology . 58 (5): 827-828 . |
177 | 12080997 | 2002 | Raut, V., Sinnathuray, A. R., Toner, J. G. (2002) Cochlear implantation in maternal inherited diabetes and deafness syndrome Journal of Laryngology and Otology . 116 (5): 373-375 . |
178 | 12089377 | 2002 | Yamagata, K., Muro, K., Usui, J., Hagiwara, M., Kai, H., Arakawa, Y., Shimizu, Y., Tomida, C., Hirayama, K., Kobayashi, M., Koyama, A. (2002) Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions Journal of the American Society of Nephrology . 13 (7): 1816-1823 . |
179 | 12101407 | 2002 | Wittenhagen, L. M., Kelley, S. O. (2002) Dimerization of a pathogenic human mitochondrial tRNA Nature Structural Biology . 9 (8): 586-590 . |
180 | 12150714 | 2002 | Majamaa-Voltti, K., Peuhkurinen, K., Kortelainen, M. L., Hassinen, I. E., Majamaa, K. (2002) Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G BMC Cardiovascular Disorders (online) . 2 (1): 12 . |
181 | 12207817 | 2002 | Kato, Y., Miura, Y., Inagaki, A., Itatsu, T., Oiso, Y. (2002) Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA Diabetic Medicine . 19 (9): 784-786 . |
182 | 12391367 | 2002 | Remes, A. M., Liimatta, E. V., Winqvist, S., Tolonen, U., Ranua, J. A., Reinikainen, K., Hassinen, I. E., Majamaa, K. (2002) Ubiquinone and nicotinamide treatment of patients with the 3243A-->G mtDNA mutation Neurology . 59 (8): 1275-1277 . |
183 | 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 . |
184 | 16120317 | 2002 | Chinnery, P. F. (2002) Inheritance of mitochondrial disorders Mitochondrion . 2 (40545): 149-55 . |
185 | 12574954 | 2003 | Karppa, M., Syrjala, P., Tolonen, U., Majamaa, K. (2003) Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA Journal of Neurology . 250 (2): 216-221 . |
186 | 12590018 | 2003 | Suzuki, S., Oka, Y., Kadowaki, T., Kanatsuka, A., Kuzuya, T., Kobayashi, M., Sanke, T., Seino, Y., Nanjo, K., and The Research Committee for Specific Types of Diabetes Mellitus with Gene Mutations of the Japan Diabetes Society. (2003) Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications Diabetes Research and Clinical Practice . 59 (3): 207-217 . |
187 | 12609508 | 2003 | Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., Matsuishi, T. (2003) Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations Neuromuscular Disorders . 13 (3): 259-262 . |
188 | 12612863 | 2003 | Torroni, A., Campos, Y., Rengo, C., Sellitto, D., Achilli, A., Magri, C., Semino, O., Garcia, A., Jara, P., Arenas, J., Scozzari, R. (2003) Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation American Journal of Human Genetics . 72 (4): 1005-1012 . |
189 | 12627331 | 2003 | Lynn, S., Borthwick, G. M., Charnley, R. M., Walker, M., Turnbull, D. M. (2003) Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells Diabetologia . 46 (2): 296-9 . |
190 | 12729737 | 2003 | Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 . |
191 | 12838523 | 2003 | Jeppesen, T. D., Schwartz, M., Olsen, D. B., Vissing, J. (2003) Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy Annals of Neurology . 54 (1): 86-92 . |
192 | 12874464 | 2003 | Guery, B., Choukroun, G., Noel, L. H., Clavel, P., Rotig, A., Lebon, S., Rustin, P., Bellane-Chantelot, C., Mougenot, B., Grunfeld, J. P., Chauveau, D. (2003) The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation Journal of the American Society of Nephrology . 14 (8): 2099-2108 . |
193 | 14571459 | 2003 | Tzen, C. Y., Thajeb, P., Wu, T. Y., Chen, S. C. (2003) Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g) Muscle and Nerve . 28 (5): 575-581 . |
194 | 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 . |
195 | 14648149 | 2003 | Olsen, D. B., Langkilde, A. R., Orngreen, M. C., Rostrup, E., Schwartz, M., Vissing, J. (2003) Muscle structural changes in mitochondrial myopathy relate to genotype Journal of Neurology . 250 (11): 1328-1334 . |
196 | 14673589 | 2003 | Koller, H., Kornischka, J., Neuen-Jacob, E., Saleh, A., von Giesen, H. J., Schmiedel, J., Reichmann, H., Hartung, H. P. (2003) Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome Journal of Neurology . 250 (12): 1501-1502 . |
197 | 14648337 | 2004 | Ueda, Y.,o, A., Nagata, T., Yanagida, H., Yagi, K., Sugimoto, K., Okada, M., Takemura, T. (2004) A boy with mitochondrial disease: asymptomatic proteinuria without neuromyopathy Pediatric Nephrology . 19 (1): 107-110 . |
198 | 14722523 | 2004 | Pons, R., Andreu, A. L., Checcarelli, N., Vila, M. R., Engelstad, K., Sue, C. M., Shungu, D., Haggerty, R., de Vivo, D. C., DiMauro, S. (2004) Mitochondrial DNA abnormalities and autistic spectrum disorders Journal of Pediatrics . 144 (1): 81-85 . |
199 | 15032978 | 2004 | Petruzzella, V., Zoccolella, S., Amati, A., Torraco, A., Lamberti, P., Carnicella, F., Serlenga, L., Papa, S. (2004) Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation Clinical Genetics . 65 (1): 64-65 . |
200 | 15056184 | 2004 | Lindholm, H., Lofberg, M., Somer, H., Naveri, H., Sovijarvi, A. (2004) Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms Clinical Physiology and Functional Imaging . 24 (2): 109-115 . |
201 | 15073091 | 2004 | Bai, R. K., Wong, L. J. (2004) Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach Clinical Chemistry . 50 (6): 996-1001 . |
202 | 15111665 | 2004 | Kaufmann, P., Shungu, D. C., Sano, M. C., Jhung, S., Engelstad, K., Mitsis, E., Mao, X., Shanske, S., Hirano, M., DiMauro, S., De Vivo, D. C. (2004) Cerebral lactic acidosis correlates with neurological impairment in MELAS Neurology . 62 (8): 1297-1302 . |
203 | 15126302 | 2004 | Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 . |
204 | 15164188 | 2004 | Karppa, M., Mahjneh, I., Karttunen, A., Tolonen, U., Majamaa, K. (2004) Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G Journal of Neurology . 251 (5): 556-563 . |
205 | 15180810 | 2004 | Mancuso, M., Filosto, M., Forli, F., Rocchi, A., Berrettini, S., Siciliano, G., Murri, L. (2004) A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation Acta Neurologica Scandinavica . 110 (1): 72-74 . |
206 | 15220216 | 2004 | Cervin, C., Liljestrom, B., Tuomi, T., Heikkinen, S., Tapanainen, J. S., Groop, L., Cilio, C. M. (2004) Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences Diabetes . 53 (7): 1894-1899 . |
207 | 15238271 | 2004 | Lodi, R., Rajagopalan, B., Blamire, A. M., Crilley, J. G., Styles, P., Chinnery, P. F. (2004) Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy Biochimica et Biophysica Acta . 1657 (40577): 146-150 . |
208 | 15258237 | 2004 | Deschauer, M., Chinnery, P. F., Schaefer, A. M., Turnbull, D. M., Taylor, R. W., Zierz, S., Shanske, S., DiMauro, S., Majamaa, K., Wilichowski, E., Thorburn, D. R. (2004) No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation Journal of Neurology, Neurosurgery and Psychiatry . 75 (8): 1204-1205 . |
209 | 15286228 | 2004 | Uusimaa, J., Finnila, S., Remes, A. M., Rantala, H., Vainionpaa, L., Hassinen, I. E., Majamaa, K. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes Pediatrics . 114 (2): 443-450 . |
210 | 15328490 | 2004 | Casademont, J., Perea, M., Lopez, S., Beato, A., Miro, O., Cardellach, F. (2004) Enzymatic diagnosis of oxidative phosphorylation defects on muscle biopsy: better on tissue homogenate or on a mitochondria-enriched suspension? Medical Science Monitor . 10 (9): CS49-53 . |
211 | 15372523 | 2004 | Shanske, S., Pancrudo, J., Kaufmann, P., Engelstad, K., Jhung, S., Lu, J., Naini, A., DiMauro, S., De Vivo, D. C. (2004) Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis American Journal of Medical Genetics . 130 (2): 134-137 . |
212 | 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 . |
213 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
214 | 15660201 | 2004 | Martin-Kleiner, I., Pape-Medvidovic, E., Pavlic-Renar, I., Metelko, Z., Kusec, R., Gabrilovac, J., Boranic, M. (2004) A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance Acta Diabetolgica . 41 (4): 179-184 . |
215 | 15292920 | 2005 | Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 . |
216 | 15585516 | 2005 | Lowik, M. M., Hol, F. A., Steenbergen, E. J., Wetzels, J. F., van den Heuvel, L. P. (2005) Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis Nephrology, Dialysis, Transplantation . 20 (2): 336-341 . |
217 | 15737668 | 2005 | Munakata, K., Iwamoto, K., Bundo, M., Kato, T. (2005) Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia Biological Psychiatry . 57 (5): 525-532 . |
218 | 15752543 | 2005 | Kariya, S., Hirano, M., Furiya, Y., Ueno, S. (2005) Effect of humanin on decreased ATP levels of human lymphocytes harboring A3243G mutant mitochondrial DNA Neuropeptides . 39 (2): 97-101 . |
219 | 15870203 | 2005 | Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 . |
220 | 15880407 | 2005 | Bannwarth, S., Procaccio, V., Paquis-Flucklinger, V. (2005) Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects Human Mutation . 25 (6): 575-582 . |
221 | 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 . |
222 | 16050991 | 2005 | Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., Kofler, B. (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion . 5 (4): 282-296 . |
223 | 16290150 | 2005 | Nakano, K., Tarashima, M., Tachikawa, E., Noda, N., Nakayama, T., Sasaki, K., Mizoguchi, E., Matsuzaki, M., Osawa, M. (2005) Platelet mitochondrial evaluation during cytochrome c and dichloroacetate treatments of MELAS Mitochondrion . 5 (6): 426-433 . |
224 | 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 . |
225 | 16337222 | 2006 | Ueki, I., Koga, Y., Povalko, N., Akita, Y., Nishioka, J., Yatsuga, S., Fukiyama, R., Matsuishi, T. (2006) Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis Mitochondrion . 6 (1): 29-36 . |
226 | 16384802 | 2006 | Fattal, O., Budur, K., Vaughan, A. J., Franco, K. (2006) Review of the literature on major mental disorders in adult patients with mitochondrial diseases Psychosomatics . 47 (1): 1-7 . |
227 | 16476925 | 2006 | Schaefer, A. M. (2006) Trial of dichloroacetate in MELAS: Toxicity overshadows the assessment of potential benefit Neurology . 66 (3): 302-303 . |
228 | 16476929 | 2006 | Kaufmann, P., Engelstad, K., Wei, Y., Jhung, S., Sano, M. C., Shungu, D. C., Millar, W. S., Hong, X., Gooch, C. L., Mao, X., Pascual, J. M., Hirano, M., Stacpoole, P. W., DiMauro, S., De Vivo, D. C. (2006) Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial Neurology . 66 (3): 324-330 . |
229 | 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 . |
230 | 16490799 | 2006 | Frederiksen, A. L., Andersen, P. H., Kyvik, K. O., Jeppesen, T. D., Vissing, J., Schwartz, M. (2006) Tissue specific distribution of the 3243A->G mtDNA mutation Journal of Medical Genetics . 43 (8): 671-677 |
231 | 16717204 | 2006 | Majamaa-Voltti, K. A., Winqvist, S., Remes, A. M., Tolonen, U., Pyhtinen, J., Uimonen, S., Karppa, M., Sorri, M., Peuhkurinen, K., Majamaa, K. (2006) A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA Neurology . 66 (10): 1470-1475 . |
232 | 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 . |
233 | 16876129 | 2006 | Lu, J., Wang, D., Li, R., Li, W., Ji, J., Zhao, J., Ye, W., Yang, L., Qian, Y., Zhu, Y., Guan, M. X. (2006) Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family Biochemical and Biophysical Research Communications . 348 (1): 115-119 . |
234 | 17030784 | 2006 | Anselm, I. A., Darras, B. T. (2006) Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial Neurology . 67 (7): 1313; author reply 1313 . |
235 | 17172605 | 2006 | Dimauro, S., Hirano, M. (2006) Pedaling from genotype to phenotype Archives of Neurology . 63 (12): 1679-1680 . |
236 | 17172609 | 2006 | Jeppesen, T. D., Schwartz, M., Frederiksen, A. L., Wibrand, F., Olsen, D. B., Vissing, J. (2006) Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation Archives of Neurology . 63 (12): 1701-1706 . |
237 | 16950816 | 2007 | Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., Chinnery, P. F. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation Journal of Medical Genetics . 44 (1): 69-74 . |
238 | 17210904 | 2007 | Finsterer, J. (2007) A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA Neurology . 68 (2): 163-164 . |
239 | 17223431 | 2007 | Vydt, T. C., de Coo, R. F., Soliman, O. I., Ten Cate, F. J., van Geuns, R. J., Vletter, W. B., Schoonderwoerd, K., van den Bosch, B. J., Smeets, H. J., Geleijnse, M. L. (2007) Cardiac involvement in adults with m.3243A>G MELAS gene mutation The American Journal of Cardiology . 99 (2): 264-269 . |
240 | 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 . |
241 | 17300999 | 2007 | Manwaring, N., Jones, M. M., Wang, J. J., Rochtchina, E., Howard, C., Mitchell, P., Sue, C. M. (2007) Population prevalence of the MELAS A3243G mutation Mitochondrion . 7 (3): 230-233 . |
242 | 17336924 | 2007 | Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., Belguith, N., Charfeddine, I., Mnif, M., Triki, C., Fakhfakh, F. (2007) Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases Biochemical and Biophysical Research Communications . 355 (4): 1031-1037 . |
243 | 17403843 | 2007 | Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H., Mitchell, G. A. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics . 119 (4): 722-733 . |
244 | 17540956 | 2007 | Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone? Diabetes Care . 30 (9): 2238-2239 . |
245 | 17541738 | 2007 | Filosto, M., Tomelleri, G., Tonin, P., Scarpelli, M., Vattemi, G., Rizzuto, N., Padovani, A., Simonati, A. (2007) Neuropathology of mitochondrial diseases Bioscience Reports . 27 (40546): 23-30 . |
246 | 17587249 | 2007 | Finsterer, J. (2007) Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation Acta Neurologica Scandinavica . 116 (1): 1-14 . |
247 | 17637808 | 2007 | Leveque, M., Marlin, S., Jonard, L., Procaccio, V., Reynier, P., Amati-Bonneau, P., Baulande, S., Pierron, D., Lacombe, D., Duriez, F., Francannet, C., Mom, T., Journel, H., Catros, H., Drouin-Garraud, V., Obstoy, M. F., Dollfus, H., Eliot, M. M., Faivre, L., Duvillard, C., Couderc, R., Garabedian, E. N., Petit, C., Feldmann, D., Denoyelle, F. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip European Journal of Human Genetics . 15 (11): 1145-1155 . |
248 | 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 . |
249 | 17656376 | 2007 | Janssen, G. M., Hensbergen, P. J., van Bussel, F. J., Balog, C. I., Maassen, J. A., Deelder, A. M., Raap, A. K. (2007) The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons Human Molecular Genetics . 16 (20): 2472-2481 . |
250 | 17664998 | 2007 | Conforto, A. B., Yamamoto, F. I., Oba-Shinjo, S. M., Pinto, J. G., Hoshino, M., Scaff, M., Marie, S. K. (2007) Screening for MELAS mutations in young patients with stroke of undetermined origin Arquivos de Neuro-Psiquiatria . 65 (2B): 371-376 . |
251 | 17823937 | 2007 | Uusimaa, J., Moilanen, J. S., Vainionpaa, L., Tapanainen, P., Lindholm, P., Nuutinen, M., Lopponen, T., Maki-Torkko, E., Rantala, H., Majamaa, K. (2007) Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children Annals of Neurology . 62 (3): 278-287 . |
252 | 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 . |
253 | 17664050 | 2008 | Nishioka, J., Akita, Y., Yatsuga, S., Katayama, K., Matsuishi, T., Ishibashi, M., Koga, Y. (2008) Inappropriate intracranial hemodynamics in the natural course of MELAS Brain and Development . 30 (2): 100-105 . |
254 | 17689757 | 2008 | Tsujita, Y., Kunitomo, T., Fujii, M., Furukawa, S., Otsuki, H., Fujino, K., Hamamoto, T., Tabata, T., Matsumura, K., Sasaki, T., Saotome, T., Kawai, H., Matsumoto, T., Maeda, K., Horie, M., Eguchi, Y. (2008) A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome International Journal of Cardiology . 128 (1): e43-e45 . |
255 | 18165269 | 2008 | Lim, K. S., Naviaux, R. K., Wong, S., Haas, R. H. (2008) Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation Journal of Molecular Diagnostics . 10 (1): 102-108 . |
256 | 18180872 | 2008 | Fujii, H., Mori, Y., Kayamori, K., Igari, T., Ito, E., Akashi, T., Noguchi, Y., Kitamura, K., Okado, T., Terada, Y., Kanda, E., Rai, T., Uchida, S., Sasaki, S. (2008) A familial case of mitochondrial disease resembling Alport syndrome Clinical and Experimental Nephrology . 12 (2): 159-163 . |
257 | 18241671 | 2008 | Strand, H., Ingebretsen, O. C., Nilssen, O. (2008) Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid Clinica Chimica Acta . 390 (40545): 126-133 . |
258 | 18252214 | 2008 | Rajasimha, H. K., Chinnery, P. F., Samuels, D. C. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood American Journal of Human Genetics . 82 (2): 333-343 . |
259 | 18279408 | 2008 | Katulanda, P., Groves, C. J., Barrett, A., Sheriff, R., Matthews, D. R., McCarthy, M. I., Gloyn, A. L. (2008) Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka Diabetic Medicine . 25 (3): 370-374 . |
260 | 18290960 | 2008 | Sivaprasad, S., Kung, B. T., Robson, A. G., Black, G., Webster, A. R., Bird, A., Egan, C. (2008) A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation Clinical and Experimental Ophthalmology . 36 (1): 92-93 . |
261 | 18294221 | 2008 | Murphy, R., Turnbull, D. M., Walker, M., Hattersley, A. T. (2008) Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation Diabetic Medicine . 25 (4): 383-399 . |
262 | 18306232 | 2008 | Janssen, A. J., Schuelke, M., Smeitink, J. A., Trijbels, F. J., Sengers, R. C., Lucke, B., Wintjes, L. T., Morava, E., van Engelen, B. G., Smits, B. W., Hol, F. A., Siers, M. H., Ter Laak, H., van der Knaap, M. S., Van Spronsen, F. J., Rodenburg, R. J., van den Heuvel, L. P. (2008) Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system Annals of Neurology . 63 (4): 473-481 . |
263 | 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 . |
264 | 18332310 | 2008 | Michaelides, M., Jenkins, S. A., Bamiou, D. E., Sweeney, M. G., Davis, M. B., Luxon, L., Bird, A. C., Rath, P. P. (2008) Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members Archives of Ophthalmology . 126 (3): 320-328 . |
265 | 18391161 | 2008 | Betts, J., Barron, M. J., Needham, S. J., Schaefer, A. M., Taylor, R. W., Turnbull, D. M. (2008) Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation Neurology . 70 (15): 1290-1292 . |
266 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
267 | 18441172 | 2008 | Rath, P. P., Jenkins, S., Michaelides, M., Smith, A., Sweeney, M. G., Davis, M. B., Fitzke, F. W., Bird, A. C. (2008) Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence British Journal of Ophthalmology . 92 (5): 623-629 . |
268 | 18455161 | 2008 | DiFrancesco, J. C., Cooper, J. M., Lam, A., Hart, P. E., Tremolizzo, L., Ferrarese, C., Schapira, A. H. (2008) MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines Experimental Neurology . 212 (1): 152-156 . |
269 | 18569490 | 2008 | Moriarty, K. T., McFarland, R., Whittaker, R., Burch, J., Turnbull, H. E., Taylor, R. W., Turnbull, D. M. (2008) Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G MELAS mutation Journal of Obstetrics and Gynaecology . 28 (3): 349 . |
270 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
271 | 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 . |
272 | 18753147 | 2008 | Sasarman, F., Antonicka, H., Shoubridge, E. A. (2008) The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2 Human Molecular Genetics . 17 (23): 3697-3707 . |
273 | 18826862 | 2008 | Shimizu, J., Inatsu, A., Oshima, S., Shimizu, E., Hirata, H., Yasuda, H., Kubota, T. (2008) Hyperkalemia in familial mitochondrial cytopathy Clinical Nephrology . 70 (4): 348-353 . |
274 | 18950542 | 2008 | Howes, T., Madden, C., Dasgupta, S., Saeed, S., Das, V. (2008) Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome The Journal of Laryngology and Otology . 122 (11): 1249-1252 . |
275 | 18976726 | 2008 | Wonnapinij, P., Chinnery, P. F., Samuels, D. C. (2008) The distribution of mitochondrial DNA heteroplasmy due to random genetic drift American Journal of Human Biology . 83 (5): 582-593 . |
276 | 18990125 | 2008 | Sproule, D. M., Kaufmann, P. (2008) Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome Annals of the New York Academy of Sciences . 1142 (-): 133-158 . |
277 | 19169492 | 2008 | Bergamin, C. S., Rolim, L. C., Dib, S. A., Moises, R. S. (2008) Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10 Arquivos Brasileiros de Endocrinologia and Metabologia . 52 (8): 1345-1349 . |
278 | 19204268 | 2009 | Whittaker, R. G., Blackwood, J. K., Alston, C. L., Blakely, E. L., Elson, J. L., McFarland, R., Chinnery, P. F., Turnbull, D. M., Taylor, R. W. (2009) Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation Neurology . 72 (6): 568-569 . |
279 | 19234880 | 2009 | Nemes, A., Geleijnse, M. L., Sluiter, W., Vydt, T. C., Soliman, O. I., van Dalen, B. M., Vletter, W. B., ten Cate, F. J., Smeets, H. J., de Coo, R. F. (2009) Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation Swiss Medical Weekly . 139 (40732): 117-120 . |
280 | 19253345 | 2009 | Mehrazin, M., Shanske, S., Kaufmann, P., Wei, Y., Coku, J., Engelstad, K., Naini, A., De Vivo, D. C., DiMauro, S. (2009) Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS American Journal of Medical Genetics. Part A . 149A (4): 584-587 . |
281 | 19273755 | 2009 | Jeppesen, T. D., Orngreen, M. C., van Hall, G., Haller, R. G., Vissing, J. (2009) Fat metabolism during exercise in patients with mitochondrial disease Archives of Neurology . 66 (3): 365-370 . |
282 | 19297390 | 2009 | Srivastava, S., Diaz, F., Iommarini, L., Aure, K., Lombes, A., Moraes, C. T. (2009) PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders Human Molecular Genetics . 18 (10): 1805-1812 . |
283 | 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 . |
284 | 19376555 | 2009 | Chanson, J. B., Mohr, M., Tranchant, C., Echaniz-Laguna, A. (2009) MELAS as a cause of stroke in the elderly Revue Neurologique . 165 (11): 990-992 . |
285 | 19460299 | 2009 | Mimaki, M., Hatakeyama, H., Ichiyama, T., Isumi, H., Furukawa, S., Akasaka, M., Kamei, A., Komaki, H., Nishino, I., Nonaka, I., Goto, Y. (2009) Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders Mitochondrion . 9 (2): 115-122 . |
286 | 19470619 | 2009 | Laloi-Michelin, M., Meas, T., Ambonville, C., Bellanne-Chantelot, C., Beaufils, S., Massin, P., Vialettes, B., Gin, H., Timsit, J., Bauduceau, B., Bernard, L., Bertin, E., Blickle, J. F., Cahen-Varsaux, J., Cailleba, A., Casanova, S., Cathebras, P., Charpentier, G., Chedin, P., Crea, T., Delemer, B., Dubois-Laforgue, D., Duchemin, F., Ducluzeau, P. H., Bouhanick, B., Dusselier, L., Gabreau, T., Grimaldi, A., Guerci, B., Jacquin, V., Kaloustian, E., Larger, E., Lecleire-Collet, A., Lorenzini, F., Louis, J., Mausset, J., Murat, A., Nadler-Fluteau, S., Olivier, F., Paquis-Flucklinger, V., Paris-Bockel, D., Raynaud, I., Reznik, Y., Riveline, J. P., Schneebeli, S., Sonnet, E., Sola-Gazagnes, A., Thomas, J. L., Trabulsi, B., Virally, M., Guillausseau, P. J. (2009) The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes The Journal of Clinical Endocrinology and Metabolism . 94 (8): 3025-3030 . |
287 | 19470628 | 2009 | Frederiksen, A. L., Jeppesen, T. D., Vissing, J., Schwartz, M., Kyvik, K. O., Schmitz, O., Poulsen, P. L., Andersen, P. H. (2009) High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects The Journal of Clinical Endocrinology and Metabolism . 94 (8): 2872-2879 . |
288 | 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 . |
289 | 19502062 | 2009 | Marotta, R., Reardon, K., McKelvie, P. A., Chiotis, M., Chin, J., Cook, M., Collins, S. J. (2009) Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection Journal of Clinical Neuroscience . 16 (9): 1223-1225 . |
290 | 19561330 | 2009 | Malena, A., Loro, E., Di Re, M., Holt, I. J., Vergani, L. (2009) Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA Human Molecular Genetics . 18 (18): 3407-3416 . |
291 | 19589463 | 2009 | Cesaroni, E., Scarpelli, M., Zamponi, N., Polonara, G., Zeviani, M. (2009) Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy Pediatric Neurology . 41 (2): 131-134 . |
292 | 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 . |
293 | 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 . |
294 | 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 . |
295 | 20111055 | 2010 | Kato, T., Nishigaki, Y., Noguchi, Y., Ueno, H., Hosoya, H., Ito, T., Kimura, Y., Kitamura, K., Tanaka, M. (2010) Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss Journal of Human Genetics . 55 (3): 147-154 . |
296 | 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 . |
297 | 20164463 | 2010 | Greaves, L. C., Yu-Wai-Man, P., Blakely, E. L., Krishnan, K. J., Beadle, N. E., Kerin, J., Barron, M. J., Griffiths, P. G., Dickinson, A. J., Turnbull, D. M., Taylor, R. W. (2010) Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO Investigative Ophthalmology and Visual Science . 51 (7): 3340-3346 . |
298 | 20194621 | 2010 | Li, R., Guan, M. X. (2010) Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes Molecular and Cellular Biology . 30 (9): 2147-2154; erratum at http://mcb.asm.org/content/37/18/e00335-17 . |
299 | 20471050 | 2010 | Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 . |
300 | 20552288 | 2010 | Lederer, S. R., Klopstock, T., Schiffl, H. (2010) MELAS: a mitochondrial disorder in an adult patient with a renal transplant Wiener Klinische Wochenschrift . 122 (11-12): 363-5 . |
301 | 20610441 | 2010 | Nakamura, M., Yabe, I., Sudo, A., Hosoki, K., Yaguchi, H., Saitoh, S., Sasaki, H. (2010) MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes Journal of Medical Genetics . 47 (10): 659-664 . |
302 | 20799154 | 2010 | Matsuzaki, M., Takahashi, R., Nakayama, T., Shishikura, K., Suzuki, H., Hirayama, Y., Osawa, M., Oda, H. (2010) Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) Neuropediatrics . 41 (2): 72-74 . |
303 | 20812177 | 2010 | Bouhaha, R., Abid Kamoun, H., Elgaaied, A., Ennafaa, H. (2010) A3243G mitochondrial DNA mutation in Tunisian diabetic population Tunisie Medicale . 88 (9): 642-645 . |
304 | 20973690 | 2010 | Santa, K. M. (2010) Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome Pharmacotherapy . 30 (11): 1179-1196 . |
305 | 21067488 | 2010 | Robberecht, K., Decock, C., Stevens, A., Seneca, S., De Bleecker, J., Leroy, B. P. (2010) Ptosis as an associated finding in maternally inherited diabetes and deafness Ophthalmic Genetics . 31 (4): 240-243 . |
306 | 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 . |
307 | 20972245 | 2011 | Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 . |
308 | 21120938 | 2011 | Monnot, S., Gigarel, N., Samuels, D. C., Burlet, P., Hesters, L., Frydman, N., Frydman, R., Kerbrat, V., Funalot, B., Martinovic, J., Benachi, A., Feingold, J., Munnich, A., Bonnefont, J. P., Steffann, J. (2011) Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system Human Mutation . 32 (1): 116-125 . |
309 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
310 | 21427669 | 2011 | Lu, J., He, B., Wang, D. (2011) Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Neurosciences (Riyadh) . 16 (2): 162-163 . |
311 | 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 . |
312 | 21496500 | 2011 | Vandewoestyne, M., Heindryckx, B., Lepez, T., Van Coster, R., Gerris, J., De Sutter, P., Deforce, D. (2011) Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation Mitochondrion . 11 (4): 626-629 . |
313 | 21724600 | 2011 | Karicheva, O. Z., Kolesnikova, O. A., Schirtz, T., Vysokikh, M. Y., Mager-Heckel, A. M., Lombes, A., Boucheham, A., Krasheninnikov, I. A., Martin, R. P., Entelis, N., Tarassov, I. (2011) Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria Nucleic Acids Research . 39 (18): 8173-8186 . |
314 | 21263444 | 2012 | Rossignol, D. A., Frye, R. E. (2012) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis Molecular Psychiatry . 17 (3): 290-314 . |
315 | 21443929 | 2012 | Yatsuga, S., Povalko, N., Nishioka, J., Katayama, K., Kakimoto, N., Matsuishi, T., Kakuma, T., Koga, Y. (2012) MELAS: a nationwide prospective cohort study of 96 patients in Japan Biochimica et Biophysica Acta . 1820 (5): 619-624 . |
316 | 21944974 | 2012 | Koga, Y., Povalko, N., Nishioka, J., Katayama, K., Yatsuga, S., Matsuishi, T. (2012) Molecular pathology of MELAS and L-arginine effects Biochimica et Biophysica Acta . 1820 (5): 608-614 . |
317 | 22033022 | 2012 | Yoshii, Y., Yoneda, M., Ikawa, M., Furukawa, T., Kiyono, Y., Mori, T., Yoshii, H., Oyama, N., Okazawa, H., Saga, T., Fujibayashi, Y. (2012) Radiolabeled Cu-ATSM as a novel indicator of overreduced intracellular state due to mitochondrial dysfunction: studies with mitochondrial DNA-less rho0 cells and cybrids carrying MELAS mitochondrial DNA mutation Nuclear Medicine and Biology . 39 (2): 177-185 . |
318 | 22080835 | 2012 | Gilkerson, R. W., De Vries, R. L., Lebot, P., Wikstrom, J. D., Torgyekes, E., Shirihai, O. S., Przedborski, S., Schon, E. A. (2012) Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition Human Molecular Genetics . 21 (5): 978-990 . |
319 | 22115768 | 2012 | Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F., Miller, G. (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular Genetics and Metabolism . 105 (1): 91-102 . |
320 | 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 . |
321 | 22270878 | 2012 | Brackmann, F., Abicht, A., Ahting, U., Schroder, R., Trollmann, R. (2012) Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation European Journal of Pediatrics . 171 (5): 859-862 . |
322 | 22306605 | 2012 | Desquiret-Dumas, V., Gueguen, N., Barth, M., Chevrollier, A., Hancock, S., Wallace, D. C., Amati-Bonneau, P., Henrion, D., Bonneau, D., Reynier, P., Procaccio, V. (2012) Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS Biochimica et Biophysica Acta . 1822 (6): 1019-1029 . |
323 | 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 . |
324 | 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 . |
325 | 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 . |
326 | 22921075 | 2012 | Treff, N. R., Campos, J., Tao, X., Levy, B., Ferry, K. M., Scott, R. T., Jr. (2012) Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder Fertility and Sterility . 98 (5): 1236-1240 . |
327 | 23272214 | 2012 | Raap, A. K., Jahangir Tafrechi, R. S., van de Rijke, F. M., Pyle, A., Wahlby, C., Szuhai, K., Ravelli, R. B., de Coo, R. F., Rajasimha, H. K., Nilsson, M., Chinnery, P. F., Samuels, D. C., Janssen, G. M. (2012) Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells PLoS One . 7 (12): e52080 . |
328 | 23288206 | 2013 | Cui, H., Li, F., Chen, D., Wang, G., Truong, C. K., Enns, G. M., Graham, B., Milone, M., Landsverk, M. L., Wang, J., Zhang, W., Wong, L. J. (2013) Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders Genetics in Medicine . 15 (5): 388-394 . |
329 | 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 . |
330 | 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 . |
331 | 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 . |
332 | 23806424 | 2013 | de Laat, P., Smeitink, J. A., Janssen, M. C., Keunen, J. E., Boon, C. J. (2013) Mitochondrial retinal dystrophy associated with the m.3243A>G mutation Ophthalmology . 120 (12): 2684-2696 . |
333 | 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 . |
334 | 24003133 | 2013 | Hamalainen, R. H., Manninen, T., Koivumaki, H., Kislin, M., Otonkoski, T., Suomalainen, A. (2013) Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model Proceedings of the National Academy of Sciences of the United States of America . 110 (38): E3622-E3630 . |
335 | 24375076 | 2014 | Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, A., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Catteruccia, M., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M., Siciliano, G. (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? Journal of Neurology . 261 (3): 504-510 . |
336 | 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 . |
337 | 24864317 | 2014 | Holt, I. J., Speijer, D., Kirkwood, T. B. (2014) The road to rack and ruin: selecting deleterious mitochondrial DNA variants Philosophical Transactions B of the Royal Society . 369 (1646): 20130451 . |
338 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
339 | 25192935 | 2014 | Picard, M., Zhang, J., Hancock, S., Derbeneva, O., Golhar, R., Golik, P., O'Hearn, S., Levy, S., Potluri, P., Lvova, M., Davila, A., Lin, C. S., Perin, J. C., Rappaport, E. F., Hakonarson, H., Trounce, I. A., Procaccio, V., Wallace, D. C. (2014) Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming Proceedings of the National Academy of Sciences of the United States of America . 111 (38): E4033-E4042 . |
340 | 25451262 | 2014 | Jeong, M. H., Kim, J. H., Seo, K. S., Kwak, T. H., Park, W. J. (2014) beta-Lapachone attenuates mitochondrial dysfunction in MELAS cybrid cells Biochemical and Biophysical Research Communications . 454 (3): . . |
341 | 24667782 | 2015 | Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 . |
342 | 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 . |
343 | 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 . |
344 | 26722549 | 2015 | Zhang, J., Guo, J., Fang, W., Jun, Q., Shi, K. (2015) Clinical features of MELAS and its relation with A3243G gene point mutation International Journal of Clinical and Experimental Pathology 8 (10): 13411-13415 . |
345 | 26112752 | 2016 | Lindroos, M. M., Parkka, J. P., Taittonen, M. T., Iozzo, P., Karppa, M., Hassinen, I. E., Knuuti, J., Nuutila, P., Majamaa, K. (2016) Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA Journal of Inherited Metabolic Disease . 39 (1): 67-74 . |
346 | 26897329 | 2016 | Sanchez-Gutierrez, V., Garcia-Montesinos, J., Pardo-Munoz, A. (2016) Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation Archivos de la Sociedad Española de Oftalmología . 91 (5): 240-244 . |
347 | 27322764 | 2016 | Picard, M., Hirano, M. (2016) Disentangling (epi)genetic and environmental contributions to the mitochondrial 3243A>G mutation phenotype: phenotypic destiny in mitochondrial disease? JAMA Neurology . 73 (8): 923-925 . |
348 | 27402860 | 2016 | Takemura, G., Onoue, K., Kashimura, T., Kanamori, H., Okada, H., Tsujimoto, A., Miyazaki, N., Nakano, T., Sakaguchi, Y., Saito, Y. (2016) Electron microscopic findings are an important aid for diagnosing mitochondrial cardiomyopathy with mitochondrial DNA mutation 3243A>G Circulation. Heart failure . 9 (7): e003283 . |
349 | NA | 2017 | Clinicaltrials.gov (2017) The KHENERGY Study https://www.clinicaltrials.gov/ct2/show/NCT02909400 . (): . |
350 | 27450679 | 2017 | Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 . |
351 | 27923514 | 2017 | Finsterer, J., Zarrouk-Mahjoub, S. (2017) Levels of nitric oxide pathway parameters may depend on heteroplasmy rates of the m.3243A>G mutation International Journal of Cardiology . 229 (): 26 . |
352 | 27986282 | 2017 | El-Hattab, A. W. (2017) Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?" International Journal of Cardiology . 229 (): 28 . |
353 | 28054208 | 2017 | Koene, S., Timmermans, J., Weijers, G., de Laat, P., de Korte, C. L., Smeitink, J. A., Janssen, M. C., Kapusta, L. (2017) Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study Journal of Inherited Metabolic Disease . 40 (2): 247-259 . |
354 | 28140742 | 2017 | Qian, C. X., Branham, K., Khan, N., Lundy, S. K., Heckenlively, J. R., Jayasundera, T. (2017) Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy Ophthalmic Genetics . 38 (5): 467-472 . |
355 | 28320335 | 2017 | Mutai, H., Watabe, T., Kosaki, K., Ogawa, K., Matsunaga, T. (2017) Mitochondrial mutations in maternally inherited hearing loss BMC Medical Genetics . 18 (1): 32 . |
356 | 28847973 | 2017 | Li, R., Guan, M. X. (2017) Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes" Molecular and Cellular Biology . 37 (18): erratum . |
357 | 28916769 | 2017 | de Haas, R., Das, D., Garanto, A., Renkema, H. G., Greupink, R., van den Broek, P., Pertijs, J., Collin, R. W. J., Willems, P., Beyrath, J., Heerschap, A., Russel, F. G., Smeitink, J. A. (2017) Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease Scientific Reports . 7 (1): 11733 . |
358 | 29079678 | 2017 | Aryaman, J., Johnston, I. G., Jones, N. S. (2017) Mitochondrial DNA density homeostasis accounts for a threshold effect in a cybrid model of a human mitochondrial disease Biochemical Journal . 474 (23): 4019-4034 . |
359 | 29161289 | 2017 | Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 . |
360 | 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 . |
361 | 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 . |
362 | 29266179 | 2018 | Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstraede, K. B., Vissing, J., Duno, M., Thomassen, M., Frederiksen, A. L. (2018) Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: a 10-year prospective cohort Clinical Genetics . 93 (4): 925-928 . |
363 | 29318513 | 2018 | Yang, Y., Wu, H., Kang, X., Liang, Y., Lan, T., Li, T., Tan, T., Peng, J., Zhang, Q., An, G., Liu, Y., Yu, Q., Ma, Z., Lian, Y., Soh, B. S., Chen, Q., Liu, P., Chen, Y., Sun, X., Li, R., Zhen, X., Liu, P., Yu, Y., Li, X., Fan, Y. (2018) Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs Protein Cell . 9 (3): 283-297 . |
364 | 29343702 | 2018 | Matsubara, M., Kanda, H., Imamura, H., Inoue, M., Noguchi, M., Hosoda, K., Kakizuka, A., Nakao, K. (2018) Analysis of mitochondrial function in human induced pluripotent stem cells from patients with mitochondrial diabetes due to the A3243G mutation Scientific Reports . 8 (1): 949 . |
365 | 29376197 | 2018 | Bakhoum, M. F., Wu, W. P., White, E. C., Sengillo, J. D., Sanfilippo, C., Morcos, M. M., Freund, K. B., Perry, H. D., Sarraf, D., Tsang, S. H. (2018) Mitochondrial A3243G mutation results in corneal endothelial polymegathism Graefe's Archive for Clinical and Experimental Ophthalmology . 256 (3): 583-588 . |
366 | 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 . |
367 | 29480536 | 2018 | Kondo, H., Fujita, Y., Mizuno, Y., Kihara, M., Murayama, K. (2018) Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry Pediatrics International . 60 (3): 300-302 . |
368 | 29536171 | 2018 | Finsterer, J., Zarrouk-Mahjoub, S. (2018) Polymegathism as a biomarker of mitochondrial disorders Graefe's Archive for Clinical and Experimental Ophthalmology . 256 (6): 1211-1212 . |
369 | 29556788 | 2018 | Tsang, S., Bakhoum, M., Sengillo, J. (2018) Mitochondrial A3243G mutation results in corneal endothelial polymegathism Graefe's Archive for Clinical and Experimental Ophthalmology . 256 (6): 1213 . |
370 | 29560378 | 2018 | Pickett, S. J., Grady, J. P., Ng, Y. S., Gorman, G. S., Schaefer, A. M., Wilson, I. J., Cordell, H. J., Turnbull, D. M., Taylor, R. W., McFarland, R. (2018) Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors Annals of Clinical Translational Neurology . 5 (3): 333-345 . |
371 | 29700325 | 2018 | Beyrath, J., Pellegrini, M., Renkema, H., Houben, L., Pecheritsyna, S., van Zandvoort, P., van den Broek, P., Bekel, A., Eftekhari, P., Smeitink, J. A. M. (2018) KH176 safeguards mitochondrial diseased cells from redox stress-induced cell death by interacting with the thioredoxin system/peroxiredoxin enzyme machinery Scientific Reports . 8 (1): 6577 . |
372 | 29735722 | 2018 | Grady, J. P., Pickett, S. J., Ng, Y. S., Alston, C. L., Blakely, E. L., Hardy, S. A., Feeney, C. L., Bright, A. A., Schaefer, A. M., Gorman, G. S., McNally, R. J., Taylor, R. W., Turnbull, D. M., McFarland, R. (2018) mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease EMBO Molecular Medicine . 10 (6): . |
373 | 29928977 | 2018 | Meseguer, S., Panadero, J., Navarro-Gonzalez, C., Villarroya, M., Boutoual, R., Comi, G. P., Armengod, M. E. (2018) The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs Biochimica et Biophysica Acta. Molecular Basis of Disease . 1864 (9 Pt B): 3022-3037 . |
374 | 29983856 | 2018 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Melnichenko, A. A., Postnov, A. Y., Orekhov, A. N., Sobenin, I. A. (2018) Cybrid models of pathological cell processes in different diseases Oxidative Medicine and Cellular Longevity . 2018 (): 4647214 . |
375 | 30089816 | 2018 | Tranah, G. J., Katzman, S. M., Lauterjung, K., Yaffe, K., Manini, T. M., Kritchevsky, S., Newman, A. B., Harris, T. B., Cummings, S. R. (2018) Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality Scientific Reports . 8 (1): 11887 . |
376 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |
377 | 30133155 | 2018 | Niedermayr, K., Polzl, G., Scholl-Burgi, S., Fauth, C., Schweigmann, U., Haberlandt, E., Albrecht, U., Zlamy, M., Sperl, W., Mayr, J. A., Karall, D. (2018) Mitochondrial DNA mutation "m.3243A>G"- heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon) Congenital Heart Disease . 13 (5): 671-677 . |
378 | 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 . |
379 | 30058726 | 2019 | Janssen, M. C. H., Koene, S., de Laat, P., Hemelaar, P., Pickkers, P., Spaans, E., Beukema, R., Beyrath, J., Groothuis, J., Verhaak, C., Smeitink, J. (2019) The KHENERGY study: safety and efficacy of KH176 in mitochondrial m.3243A>G spectrum disorders Clinical Pharmacology and Therapeutics . 105 (1): 101-111 . |
380 | 30461153 | 2019 | Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 . |
381 | 30801962 | 2019 | Feeney, C. L., Lim, A. Z., Fagan, E., Blain, A., Bright, A., Maddison, J., Devine, H., Stewart, J., Taylor, R. W., Gorman, G. S., Turnbull, D. M., Nesbitt, V., McFarland, R. (2019) A case-comparison study of pregnant women with mitochondrial disease - what to expect? BJOG . 126 (11): 1380-1389 . |
382 | 31083203 | 2019 | Liu, X. Q., Shen, S. Q., Yang, G. C., Liu, Q. (2019) Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report Medicine (Baltimore) . 98 (19): e15534 . |
383 | 31143779 | 2019 | Jiang, Z., Zhang, Y., Yan, J., Li, F., Geng, X., Lu, H., Wei, X., Feng, Y., Wang, C., Jia, W. (2019) De novo mutation of m.3243A>G together with m.16093T>C associated with atypical clinical features in a pedigree with MIDD syndrome Journal of Diabetes Research . 2019 (): 5184647 . |
384 | 31641105 | 2019 | Pek, N. M. Q., Phua, Q. H., Ho, B. X., Pang, J. K. S., Hor, J. H., An, O., Yang, H. H., Yu, Y., Fan, Y., Ng, S. Y., Soh, B. S. (2019) Mitochondrial 3243A > G mutation confers pro-atherogenic and pro-inflammatory properties in MELAS iPS derived endothelial cells Cell Death and Disease . 10 (11): 802 . |
385 | 31867706 | 2019 | Chen, W. T., Lin, Y. S., Wang, Y. F., Fuh, J. L. (2019) Adult onset MELAS syndrome presenting as a mimic of herpes simplex encephalitis Acta Neurologica Taiwanica . 28 (2): 46-51 . |
386 | 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 . |