Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

Feinberg, A. P., & Vogelstein, B. (1983) · Analytical Biochemistry · doi:10.1016/0003-2697(83)90418-9 · Cited by 24,512

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., & Marsh, J. C. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80286-3 · Cited by 440

Redesigning Trypsin: Alteration of Substrate Specificity

Craik, C. S., Largman, C., Fletcher, T. S., Roczniak, S. O., Barr, P. J., Fletterick, R. J., & Rutter, W. J. (1985) · Science · doi:10.1126/science.3838593 · Cited by 364

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

Rötig, A., Colonna, M., Bonnefont, J., Blanche, S., Fischer, A., Saudubray, J., & Münnich, A. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92897-3 · Cited by 260

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

Moraes, C. T., Schon, E. A., DiMauro, S., & Miranda, A. F. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)92499-6 · Cited by 95

Cytochromec oxidase deficiency in infancy

Oldfors, A., Sommerland, H., Holme, E., Tulinius, M., & KRISTIANSSON, B. (1989) · Acta Neuropathologica · doi:10.1007/bf00687578 · Cited by 40

Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?

Wallace, D. C. (1992) · Science · doi:10.1126/science.1533953 · Cited by 1,262

The Inheritance of Genes in Mitochondria and Chloroplasts: Laws, Mechanisms, and Models

Birky, C. W. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.090231 · Cited by 810

Aging-Dependent Large Accumulation of Point Mutations in the Human mtDNA Control Region for Replication

Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G., & Attardi, G. M. (1999) · Science · doi:10.1126/science.286.5440.774 · Cited by 724

Mitochondrial DNA mutations and human disease

Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.

Cortopassi, G. A., Shibata, D. K., Soong, N.-W., & Arnheim, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.16.7370 · Cited by 639

Endogenously oxidized mitochondrial DNA induces in vivo and in vitro inflammatory responses

Collins, L. V., Hajizadeh, S., Holme, E., Jonsson, I., & Tarkowski, A. (2004) · Journal of Leukocyte Biology · doi:10.1189/jlb.0703328 · Cited by 504

Mitochondrial DNA copy number in human disease: the more the better?

Filograna, R., Mennuni, M., Alsina, D., & Larsson, N. (2020) · FEBS Letters · doi:10.1002/1873-3468.14021 · Cited by 498

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.

Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Brüning, J. C., Kahn, C. R., Clayton, D. A., Barsh, G. S., et al. (1999) · Nature Genetics · doi:10.1038/5089 · Cited by 435

Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts

Hirano, M., & Pavlakis, S. G. (1994) · Journal of Child Neurology · doi:10.1177/088307389400900102 · Cited by 365

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

Corral‐Debrinski, M., Shoffner, J. M., Lott, M. T., & Wallace, D. C. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90021-g · Cited by 360

The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

Darín, N., Oldfors, A., Moslemi, A., Holme, E., & Tulinius, M. (2001) · Annals of Neurology · doi:10.1002/ana.75 · Cited by 362

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Boulet, L., Karpati, G., & Shoubridge, E. A. (1992) · Europe PMC (PubMed Central) · Cited by 331

Mitochondrial DNA mutations in disease and aging

Park, C. B., & Larsson, N.-G. (2011) · Journal of Cell Biology · doi:10.1083/jcb.201010024 · Cited by 277

Increased mitochondrial mass in mitochondrial myopathy mice

Wredenberg, A., Wibom, R., Wilhelmsson, H., Graff, C., Wiener, H. H., Burden, S. J., Oldfors, A., Westerblad, H., & Larsson, N.-G. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.232591499 · Cited by 302

The development of mitochondrial medicine.

Luft, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.19.8731 · Cited by 303

Impaired mitochondrial transport and Parkin-independent degeneration of respiratory chain-deficient dopamine neurons in vivo

Sterky, F. H., Lee, S., Wibom, R., Olson, L., & Larsson, N. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1103295108 · Cited by 300

Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

Wang, Y., Michikawa, Y., Mallidis, C., Bai, Y., Woodhouse, L. J., Yarasheski, K. E., Miller, C. A., Askanas, V., Engel, W. K., Bhasin, S., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.061013598 · Cited by 272

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging.

Wallace, D. C. (1995) · PubMed Central · Cited by 264

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H.-H. M., Turnbull, D. M., Lightowlers, R. N., & Howell, N. (2000) · Trends in Genetics · doi:10.1016/s0168-9525(00)02120-x · Cited by 253

Diagnoses of neuronal ceroid‐lipofuscinosis by immunochemical methods

Hosain, S. A., Kaufmann, W. E., Negrin, G., Watkins, P. A., Siakotos, A. N., Palmer, D. N., & Naidu, S. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320570226 · Cited by 256

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

Goethem, G. V., Martin, J. J., Dermaut, B., Löfgren, A., Wibail, A., Ververken, D., Tack, P., Dehaene, I., Zandijcke, M. V., Moonen, M., et al. (2003) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00216-x · Cited by 245

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

Simonetti, S., Chen, X., DiMauro, S., & Schon, E. A. (1992) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(92)90059-v · Cited by 242

Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

Rahman, S., Poulton, J., Marchington, D., & Suomalainen, A. (2001) · The American Journal of Human Genetics · doi:10.1086/316930 · Cited by 237

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

Chinnery, P. F., Samuels, D. C., Elson, J. L., & Turnbull, D. M. (2002) · The Lancet · doi:10.1016/s0140-6736(02)11310-9 · Cited by 237

Neuroimaging of mitochondrial disease

Saneto, R. P., Friedman, S. D., & Shaw, D. (2008) · Mitochondrion · doi:10.1016/j.mito.2008.05.003 · Cited by 239

Mitochondrial diseases: from molecular mechanisms to therapeutic advances

Wen, H., Deng, H., Li, B., Chen, J., Zhu, J., Zhang, X., Yoshida, S., & Zhou, Y. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-02044-3 · Cited by 284

Mitochondrial DNA mutations in human degenerative diseases and aging

Wallace, D. C., Shoffner, J. M., Trounce, I. A., Brown, M. D., Ballinger, S. W., Corral‐Debrinski, M., Horton, T. M., Jun, A. S., & Lott, M. T. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00021-u · Cited by 225

Deleterious mitochondrial DNA mutations accumulate in aging human tissues

Arnheim, N., & Cortopassi, G. A. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90020-p · Cited by 217

Time-Dependent and Tissue-Specific Accumulation of mtDNA and Respiratory Chain Defects in Chronic Doxorubicin Cardiomyopathy

Lebrecht, D., Setzer, B., Ketelsen, U., Haberstroh, J., & Walker, U. A. (2003) · Circulation · doi:10.1161/01.cir.0000093196.59829.df · Cited by 216

Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

Taivassalo, T., Shoubridge, E. A., Chen, J. M., Kennaway, N. G., DiMauro, S., Arnold, D. L., & Haller, R. G. (2001) · Annals of Neurology · doi:10.1002/ana.1050 · Cited by 213

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S., & Vissing, J. (2006) · Brain · doi:10.1093/brain/awl149 · Cited by 211

Mitochondrial defects in cardiomyopathy and neuromuscular disease

Wallace, D. C. (2000) · American Heart Journal · doi:10.1067/mhj.2000.103934 · Cited by 210

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

Fayet, G., Jansson, M., Sternberg, D., Moslemi, A.-R., Blondy, P., Lombès, A., Fardeau, M., & Oldfors, A. (2002) · Neuromuscular Disorders · doi:10.1016/s0960-8966(01)00332-7 · Cited by 206

Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease

Chinnery, P. F., & Samuels, D. C. (1999) · The American Journal of Human Genetics · doi:10.1086/302311 · Cited by 200

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.

Weber, K., Wilson, J., Taylor, L., Brierley, E. J., Johnson, M. A., Turnbull, D. M., & Bindoff, L. A. (1997) · PubMed · Cited by 199

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M., & Kennaway, N. G. (1996) · Nature Genetics · doi:10.1038/ng0496-410 · Cited by 193

Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control

Díaz, F. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf602 · Cited by 171

Mitochondrial DNA mutations in diseases of energy metabolism

Wallace, D. C. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763096 · Cited by 173

Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly

Müller-Höcker, J., Seibel, P., Schneiderbanger, K., & Kadenbach, B. (1993) · Virchows Archiv A Pathological Anatomy and Histopathology · doi:10.1007/bf01605127 · Cited by 168

Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice

Sörensen, L., Ekstrand, M., Silva, J., Lindqvist, E., Xu, B., Rustin, P., Olson, L., & Larsson, N.-G. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-20-08082.2001 · Cited by 167

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Larsson, N., Tulinius, M., Holme, E., Oldfors, A., Andersen, O., Wahlström, J., & Aasly, J. O. (1992) · Europe PMC (PubMed Central) · Cited by 163

Leber's hereditary optic neuropathy and complex I deficiency in muscle

Larsson, N., Andersen, O., Holme, E., Oldfors, A., & Wahlström, J. (1991) · Annals of Neurology · doi:10.1002/ana.410300511 · Cited by 162

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy

Fu, K. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1835 · Cited by 161

Mitochondria in neuromuscular disorders

DiMauro, S., Bonilla, E., Davidson, M. M., Hirano, M., & Schon, E. A. (1998) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00113-3 · Cited by 158

Tissue‐specific mtDNA lesions and radical‐associated mitochondrial dysfunction in human hearts exposed to doxorubicin

Lebrecht, D., Kokkori, A., Ketelsen, U., Setzer, B., & Walker, U. A. (2005) · The Journal of Pathology · doi:10.1002/path.1863 · Cited by 149

Molecular basis of mitochondrial DNA disease

Brown, M. D., & Wallace, D. C. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763099 · Cited by 148

Nuclear genetic control of mitochondrial DNA segregation

Battersby, B. J., Loredo-Osti, J. C., & Shoubridge, E. A. (2003) · Nature Genetics · doi:10.1038/ng1073 · Cited by 144

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Kauppila, J. H. K., Baines, H. L., Bratić, A. M., Simard, M., Freyer, C., Mourier, A., Stamp, C., Filograna, R., Larsson, N., Greaves, L. C., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.08.037 · Cited by 143

Dexrazoxane prevents doxorubicin‐induced long‐term cardiotoxicity and protects myocardial mitochondria from genetic and functional lesions in rats

Lebrecht, D., Geist, A., Ketelsen, U., Haberstroh, J., Setzer, B., & Walker, U. A. (2007) · British Journal of Pharmacology · doi:10.1038/sj.bjp.0707294 · Cited by 136

Metabolic cardiomyopathies

Guertl, B., Noehammer, C., & Höefler, G. (2000) · International Journal of Experimental Pathology · doi:10.1046/j.1365-2613.2000.00186.x · Cited by 136

Mitochondrial diseases: genotype versus phenotype

Wallace, D. C. (1993) · Trends in Genetics · doi:10.1016/0168-9525(93)90207-x · Cited by 130

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

Tulinius, M., Holme, E., KRISTIANSSON, B., Larsson, N., & Oldfors, A. (1991) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80734-6 · Cited by 127

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

Carelli, V., & Chan, D. C. (2014) · Neuron · doi:10.1016/j.neuron.2014.11.022 · Cited by 134

New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice

Cao, L., Shitara, H., Sugimoto, M., Hayashi, J.-I., Abe, K., & Yonekawa, H. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000756 · Cited by 124

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., ARNOS, K. S., Bitner-Glindzicz, M. A. K., Emery, S. B., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33970 · Cited by 123

Mitochondrial Heterogeneity

Aryaman, J., Johnston, I. G., & Jones, N. S. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2018.00718 · Cited by 123

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

Keightley, J. A., Anitori, R. P., Burton, M. D., Quan, F., Buist, N. R. M., & Kennaway, N. G. (2000) · The American Journal of Human Genetics · doi:10.1086/316900 · Cited by 121

Tight Control of Respiration by NADH Dehydrogenase ND5 Subunit Gene Expression in Mouse Mitochondria

Bai, Y., Shakeley, R. M., & Attardi, G. M. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.3.805-815.2000 · Cited by 115

Increases of Mitochondrial Mass and Mitochondrial Genome in Association with Enhanced Oxidative Stress in Human Cells Harboring 4,977 BP‐Deleted Mitochondrial DNA

Wei, Y., Lee, C., Lee, H., Ma, Y., Wang, C., Lu, C., & Pang, C. (2001) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2001.tb05640.x · Cited by 107

Exercise and training in mitochondrial myopathies

TAIVASSALO, T., & HALLER, R. G. (2005) · Medicine & Science in Sports & Exercise · doi:10.1249/01.mss.0000177446.97671.2a · Cited by 106

Mitochondrial Disease: Mutations and Mechanisms

McKenzie, M., Liolitsa, D., & Hanna, M. G. (2004) · Neurochemical Research · doi:10.1023/b:nere.0000014829.42364.dd · Cited by 106

Mitochondrial genetics and human disease

Grossman, L. I., & Shoubridge, E. A. (1996) · BioEssays · doi:10.1002/bies.950181208 · Cited by 107

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M., & Davis, M. B. (1992) · Europe PMC (PubMed Central) · Cited by 104

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

Bourgeron, T., Chrétien, D., Rötig, A., Münnich, A., & Rustin, P. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)36524-x · Cited by 102

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication

Battersby, B. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.22.2469 · Cited by 101

Is the Bottleneck Cracked?

Poulton, J., Macaulay, V. A., & Marchington, D. R. (1998) · The American Journal of Human Genetics · doi:10.1086/301811 · Cited by 98

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

Yamashita, S., Nishino, I., Nonaka, I., & Goto, Y. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0289-8 · Cited by 96

The kidney in mitochondrial cytopathies

Niaudet, P., & Rötig, A. (1997) · Kidney International · doi:10.1038/ki.1997.140 · Cited by 97

Leber hereditary optic neuropathy: clinical and molecular genetic findings

Huoponen, K. (2001) · Neurogenetics · doi:10.1007/s100480100115 · Cited by 95

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR

Szuhai, K. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.3.e13 · Cited by 93

Mechanisms of Human Mitochondrial DNA Maintenance: The Determining Role of Primary Sequence and Length over Function

Moraes, C. T., Kenyon, L., & Hao, H. (1999) · Molecular Biology of the Cell · doi:10.1091/mbc.10.10.3345 · Cited by 90

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

Matthews, P. M., Hopkin, J. M., Brown, R. M., Stephenson, J. B. P., Hilton‐Jones, D., & Brown, G. K. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.1.41 · Cited by 92

Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them

Poulton, J., Chiaratti, M. R., Meirelles, F. V., Kennedy, S., Wells, D., & Holt, I. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001066 · Cited by 92

Neuropathology in Kearns-Sayre syndrome

Oldfors, A., Fyhr, I., Holme, E., Larsson, N., & Tulinius, M. (1990) · Acta Neuropathologica · doi:10.1007/bf00294616 · Cited by 90

Down-Regulation of Mitochondrial Transcription Factor a During Spermatogenesis in Humans

Larsson, N., Oldfors, A., Garman, J. D., Barsh, G. S., & Clayton, D. A. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.2.185 · Cited by 89

Mitochondrial DNA deletion: A cause of chronic tubulointerstitial nephropathy

Szabolcs, M. J., Seigle, R. L., Shanske, S., Bonilla, E., DiMauro, S., & D’Agati, V. D. (1994) · Kidney International · doi:10.1038/ki.1994.181 · Cited by 88

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Shteyer, E., Saada, A., Shaag, A., Al‐Hijawi, F., Kidess, R., Revel-Vilk, S., & Elpeleg, O. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.02.006 · Cited by 88

Muscle Phenotype and Mutation Load in 51 Persons With the 3243A>G Mitochondrial DNA Mutation

Jeppesen, T. D., Schwartz, M., Frederiksen, A. L., Wibrand, F., Olsen, D. B., & Vissing, J. (2006) · Archives of Neurology · doi:10.1001/archneur.63.12.1701 · Cited by 86

Molecular Evolution of the Mitochondrial Genome

Quinn, T. W. (1997) · Elsevier eBooks · doi:10.1016/b978-012498315-1/50002-9 · Cited by 81

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

Tulinius, M., Holme, E., KRISTIANSSON, B., Larsson, N., & Oldfors, A. (1991) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80735-8 · Cited by 84

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Yoshimi, A., Ishikawa, K., Niemeyer, C. M., & Grünert, S. C. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02538-9 · Cited by 84

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

Superti‐Furga, A., Schoenle, E. J., Tuchschmid, P., Caduff, R. F., SABATO, V., DeMattia, D., GITZELMANN, R., & Steinmann, B. U. (1993) · European Journal of Pediatrics · doi:10.1007/bf02072515 · Cited by 80

Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

Majander, A. S., Suomalainen, A., Vettenranta, K. K., Sariola, H. V., Perkio, M., Holmberg, C., & Pihko, H. S. (1991) · Pediatric Research · doi:10.1203/00006450-199110000-00007 · Cited by 78

Mitochondrial medicine – recent advances

Graff, C., Clayton, D. A., & Larsson, N. (1999) · Journal of Internal Medicine · doi:10.1046/j.1365-2796.1999.00514.x · Cited by 79

Detection and quantitation by competitive PCR of an age-associated increase in a 4.8-kb deletion in rat mitochondrial DNA

Edris, W. A., Burgett, B. L., Stine, O. C., & Filburn, C. R. (1994) · Mutation Research/DNAging · doi:10.1016/0921-8734(94)90009-4 · Cited by 77

Mitochondrial heteroplasmy beyond the oocyte bottleneck

van den Ameele, J., Li, A. Y. Z., Ma, H., & Chinnery, P. F. (2019) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2019.10.001 · Cited by 81

Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Pontarin, G., Ferraro, P., Valentino, M. L., Hirano, M., Reichard, P. A., & Bianchi, V. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m604498200 · Cited by 75

Mitochondrial respiratory chain disorders and the liver

Morris, A. A. M. (1999) · Liver International · doi:10.1111/j.1478-3231.1999.tb00063.x · Cited by 72

Germ-line deletions of mtDNA in mitochondrial myopathy.

Poulton, J., Deadman, M. E., Ramacharan, S., & Gardiner, R. M. (1991) · Europe PMC (PubMed Central) · Cited by 69

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

Auré, K., de Baulny, H. O., Laforêt, P., Jardel, C., Eymard, B., & Lombès, A. (2007) · Brain · doi:10.1093/brain/awm067 · Cited by 68

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas

Larsson, N., Tulinius, M., Holme, E., & Oldfors, A. (1995) · Muscle & Nerve · doi:10.1002/mus.880181421 · Cited by 66

Renal involvement in mitochondrial cytopathies

Niaudet, P., & Rötig, A. (1996) · Pediatric Nephrology · doi:10.1007/bf00866789 · Cited by 68

Isolation of Mitochondrial DNA-less Mouse Cell Lines and Their Application for Trapping Mouse Synaptosomal Mitochondrial DNA with Deletion Mutations

Inoue, K., Ito, S., Takai, D., Soejima, A., Shisa, H., Pecq, J. L., Segal-Bendirdjian, E., Kagawa, Y., & Hayashi, J. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.24.15510 · Cited by 67

Mitochondrial DNA diseases: Histological and cellular studies

Shoubridge, E. A. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763101 · Cited by 66

Mitochondrial myopathies

Larsson, N. ‐., & Oldfors, A. (2001) · Acta Physiologica Scandinavica · doi:10.1046/j.1365-201x.2001.00842.x · Cited by 65

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy

Shoubridge, E. A. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2239 · Cited by 65

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle

Chrétien, D., Bourgeron, T., Rötig, A., Munnich, A., & Rustin, P. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(05)81016-2 · Cited by 65

Mitochondrial ATP-Synthase Deficiency in a Child with 3-Methylglutaconic Aciduria

Holme, E., Greter, J., Jacobson, C.-E., Larsson, N., Lindstedt, S., Nilsson, K. O., Oldfors, A., & Tulinius, M. (1992) · Pediatric Research · doi:10.1203/00006450-199212000-00022 · Cited by 64

Mitochondrial DNA disease and developmental implications for reproductive strategies

Burgstaller, J. P., Johnston, I. G., & Poulton, J. (2014) · Molecular Human Reproduction · doi:10.1093/molehr/gau090 · Cited by 62

Congenital neutropenia and primary immunodeficiency diseases

Spoor, J., Farajifard, H., & Rezaei, N. (2018) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2018.10.003 · Cited by 62

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR

Obermaier-Kusser, B., Müller‐Höcker, J., Nelson, I. P., Lestienne, P. P., Enter, C., Riedele, T., & Gerbitz, K.-D. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)91994-4 · Cited by 38

Progression in a Case of Kearns-Sayre Syndrome

Ishikawa, Y., Goto, Y., Ishikawa, Y., & Minami, R. (2000) · Journal of Child Neurology · doi:10.1177/088307380001501107 · Cited by 13

A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up

Mohri, I., Taniike, M., Fujimura, H., Matsuoka, T., Inui, K., Nagai, T., & Okada, S. (1998) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(98)00082-3 · Cited by 23

Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

Shanske, S., Moraes, C. T., Lombès, A., Miranda, A. F., Bonilla, E., Lewis, P., Whelan, M. A., Ellsworth, C. A., & DiMauro, S. (1990) · Neurology · doi:10.1212/wnl.40.1.24 · Cited by 151

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., & Rowland, L. P. (1998) · Neurology · doi:10.1212/wnl.51.6.1525-a · Cited by 52