Diagnosis of mitochondrial myopathies

Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations

Chen, H., Vermulst, M., Wang, Y. E., Chomyn, A., Prolla, T. A., McCaffery, J. M., & Chan, D. C. (2010) · Cell · doi:10.1016/j.cell.2010.02.026 · Cited by 1,211 · see citing works

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics · doi:10.1038/90058 · Cited by 882 · see citing works

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001) · Nature Genetics · doi:10.1038/90034 · Cited by 841 · see citing works

The genetics and pathology of oxidative phosphorylation

Smeitink, J. A. M., van den Heuvel, L., & DiMauro, S. (2001) · Nature Reviews Genetics · doi:10.1038/35072063 · Cited by 718 · see citing works

Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttälä, A., Zeviani, M., Comi, G. P., Keränen, S., Peltonen, L., & Suomalainen, A. (2000) · Science · doi:10.1126/science.289.5480.782 · Cited by 636 · see citing works

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhu, Z., Yao, J., Johns, T., Fu, K., Bie, I. D., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., et al. (1998) · Nature Genetics · doi:10.1038/3804 · Cited by 620 · see citing works

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Mandel, H., Szargel, R., Labay, V., Elpeleg, O. N., Saada, A., Shalata, A., Anbinder, Y., Berkowitz, D., Hartman, C., Barak, M., et al. (2001) · Nature Genetics · doi:10.1038/ng746 · Cited by 588 · see citing works

Diagnostic criteria for respiratory chain disorders in adults and children

Bernier, F. P., Boneh, A., Dennett, X., Chow, C. W., Cleary, M., & Thorburn, D. R. (2002) · Neurology · doi:10.1212/01.wnl.0000033795.17156.00 · Cited by 574 · see citing works

Somatic Mitochondrial DNA Mutations in Mammalian Aging

Larsson, N. (2010) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060408-093701 · Cited by 543 · see citing works

Monogenic Mitochondrial Disorders

Koopman, W. J. H., Willems, P. H. G. M., & Smeitink, J. A. M. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1012478 · Cited by 515 · see citing works

Treatment for mitochondrial disorders

Pfeffer, G., Majamaa, K., Turnbull, D. M., Thorburn, D. R., & Chinnery, P. F. (2012) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd004426.pub3 · Cited by 501 · see citing works

Mitochondrial diseases

Schapira, A. H. V. (2012) · The Lancet · doi:10.1016/s0140-6736(11)61305-6 · Cited by 499 · see citing works

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003310 · Cited by 476 · see citing works

Multi-system neurological disease is common in patients with OPA1 mutations

Yu‐Wai‐Man, P., Griffiths, P. G., Gorman, G. S., Lourenço, C. M., Wright, A. F., Auer‐Grumbach, M., Toscano, A., Musumeci, O., Valentino, M. L., Caporali, L., et al. (2010) · Brain · doi:10.1093/brain/awq007 · Cited by 446 · see citing works

Fuel Homeostasis in Exercise

Bleich, H. L., Boro, E. S., Felig, P., & Wahren, J. (1975) · New England Journal of Medicine · doi:10.1056/nejm197511202932107 · Cited by 393 · see citing works

Systematic identification of human mitochondrial disease genes through integrative genomics

Calvo, S. E., Jain, M., Xie, X. S., Sheth, S. A., Chang, B., Goldberger, O., Spinazzola, A., Zeviani, M., Carr, S. A., & Mootha, V. K. (2006) · Nature Genetics · doi:10.1038/ng1776 · Cited by 344 · see citing works

Cytochrome c oxidase deficiency

Shoubridge, E. A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1378 · Cited by 328 · see citing works

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S., & Saada, A. (2005) · American Journal of Human Genetics · doi:10.1086/430843 · Cited by 323 · see citing works

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Olsen, R. K. J., Olpin, S. E., Andresen, B. S., Miedzybrodzka, Z., Pourfarzam, M., Merinero, B., Frerman, F. E., Beresford, M. W., Dean, J., Cornelius, N., et al. (2007) · Brain · doi:10.1093/brain/awm135 · Cited by 319 · see citing works

Decreased interleukin-10 and increased interleukin-12p40 mRNA are associated with disease activity and characterize different disease stages in multiple sclerosis

van Boxel-Dezaire, A. H. H., Hoff, S. C. J., van Oosten, B. W., Verweij, C. L., Dräger, A. M., Adèr, H. J., van Houwelingen, H. C., Barkhof, F., Polman, C. H., & Nagelkerken, L. M. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199906)45:6 · Cited by 266 · see citing works

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, M. J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S. E., Taylor, R. W., Nightingale, S., Turnbull, D. M., Copeland, W. C., & Chinnery, P. F. (2006) · The American Journal of Human Genetics · doi:10.1086/504303 · Cited by 248 · see citing works

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Riley, L. G., Cooper, S. T., Hickey, P. F., Rudinger‐Thirion, J., McKenzie, M., Compton, A. G., Lim, S. C., Thorburn, D. R., Ryan, M. T., Giegé, R., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.001 · Cited by 240 · see citing works

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

Jaksch, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.5.795 · Cited by 222 · see citing works

Heterogeneity of Coenzyme Q₁₀Deficiency: Patient Study and Literature Review

Emmanuele, V., López, L. C., Berardo, A., Naini, A., Tadesse, S., Wen, B., D’Agostino, E., Solomon, M., DiMauro, S., Quinzii, C., et al. (2012) · Archives of Neurology · doi:10.1001/archneurol.2012.206 · Cited by 214 · see citing works

Coenzyme Q and mitochondrial disease

Quinzii, C. M., & Hirano, M. (2010) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.108 · Cited by 185 · see citing works

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

Dimmock, D., Zhang, Q., Dionisi‐Vici, C., Carrozzo, R., Shieh, J. T. C., Tang, L.-Y., Truong, C. K., Schmitt, E. S., Sifry-Platt, M., Lucioli, S., et al. (2008) · Human Mutation · doi:10.1002/humu.9519 · Cited by 169 · see citing works

Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

Zhang, V. W., Cui, H., & Wong, L. C. (2012) · Clinical Chemistry · doi:10.1373/clinchem.2011.181438 · Cited by 169 · see citing works

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Saada, A., Vogel, R. O., Hoefs, S. J. G., van den Brand, M. A. M., Wessels, H. J. C. T., Willems, P. H. G. M., Venselaar, H., Shaag, A., Barghuti, F., Reish, O., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.020 · Cited by 168 · see citing works

Roles of mitochondria in human disease

Duchen, M. R., & Szabadkai, G. (2010) · Essays in Biochemistry · doi:10.1042/bse0470115 · Cited by 167 · see citing works

Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum

Tang, S., Wang, J., Lee, N., Milone, M., Halberg, M. C., Schmitt, E. S., Craigen, W. J., Zhang, W. Y., & Wong, L. J. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100222 · Cited by 162 · see citing works

Acquired immune and inflammatory myopathies

Pestronk, A. (2011) · Current Opinion in Rheumatology · doi:10.1097/bor.0b013e32834bab42 · Cited by 143 · see citing works

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

Saneto, R. P., Lee, I.-C., Koenig, M. K., Bao, X., Weng, S., Naviaux, R. K., & Wong, L.-J. C. (2010) · Seizure · doi:10.1016/j.seizure.2010.01.002 · Cited by 143 · see citing works

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Ronchi, D., Fonzo, A. D., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.014 · Cited by 136 · see citing works

Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

Debray, F., Mitchell, G. A., Allard, P., Robinson, B. H., Hanley, J. A., & Lambert, M. A. (2007) · Clinical Chemistry · doi:10.1373/clinchem.2006.081166 · Cited by 135 · see citing works

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Cui, H., Li, F., Chen, D. J., Wang, G., Truong, C. K., Enns, G. M., Graham, B. H., Milone, M., Landsverk, M., Wang, J., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.144 · Cited by 131 · see citing works

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

Dimmock, D., Tang, L.-Y., Schmitt, E. S., & Wong, L. C. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2009.141549 · Cited by 129 · see citing works

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Tyynismaa, H., Ylikallio, E., Patel, M. D., Molnár, M. J., Haller, R. G., & Suomalainen, A. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.07.009 · Cited by 121 · see citing works

Mitochondrial Toxicity of Tenofovir, Emtricitabine and Abacavir Alone and in Combination with Additional Nucleoside Reverse Transcriptase Inhibitors

Venhoff, N., Setzer, B., Melkaoui, K., & Walker, U. A. (2007) · Antiviral Therapy · doi:10.1177/135965350701200704 · Cited by 121 · see citing works

Therapeutic prospects for mitochondrial disease

Schon, E. A., DiMauro, S., Hirano, M., & Gilkerson, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.04.007 · Cited by 118 · see citing works

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, S., DiMauro, S., & Schon, E. A. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.3.449 · Cited by 118 · see citing works

Disorders of nuclear-mitochondrial intergenomic signaling

Spinazzola, A., & Zeviani, M. (2005) · Gene · doi:10.1016/j.gene.2005.03.025 · Cited by 116 · see citing works

Coenzyme Q10 deficiency and isolated myopathy

Horváth, R., Schneiderat, P., Schoser, B. G. H., Gempel, K. E., Neuen-Jacob, E., Plöger, H., Müller‐Höcker, J., Pongratz, D. E., Naini, A., DiMauro, S., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000194241.35115.7c · Cited by 115 · see citing works

Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations

Freisinger, P., Fütterer, N., Lankes, E., Gempel, K. E., Berger, T. M., Spalinger, J. H., Hörbe‐Blindt, A., Schwantes, C., Lindner, M. S., Santer, R., et al. (2006) · Archives of Neurology · doi:10.1001/archneur.63.8.1129 · Cited by 115 · see citing works

Expression and Functional Analysis of SURF1 in Leigh Syndrome Patients With Cytochrome c Oxidase Deficiency

Yao, J., & Shoubridge, E. A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2541 · Cited by 108 · see citing works

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

Salviati, L., Trevisson, E., Hernández, M., Casarin, A., Pertegato, V., Doimo, M., Cassina, M., Agosto, C., Desbats, M. A., Sartori, G., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100394 · Cited by 104 · see citing works

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Tyynismaa, H., Sun, R. X., Ahola, S., Almusa, H., Pöyhönen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A. E., Wang, L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr438 · Cited by 99 · see citing works

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders

Hirano, M., Garone, C., & Quinzii, C. M. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2012.01.006 · Cited by 95 · see citing works

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Tang, S., Wang, J., Zhang, V. W., Li, F., Landsverk, M., Cui, H., Truong, C. K., Wang, G., Chen, L. C., Graham, B. H., et al. (2013) · Human Mutation · doi:10.1002/humu.22307 · Cited by 89 · see citing works

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

Sacconi, S., Salviati, L., Sue, C. M., Shanske, S., Davidson, M. M., Bonilla, E., Naini, A., Vivo, D. C. D., & DiMauro, S. (2003) · Pediatric Research · doi:10.1203/01.pdr.0000048100.91730.6a · Cited by 88 · see citing works

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

Nouws, J., Nijtmans, L. G. J., Smeitink, J. A. M., & Vogel, R. O. (2011) · Brain · doi:10.1093/brain/awr261 · Cited by 87 · see citing works

Ultrastructural changes in diseased muscle

Dubowitz, V., & Sewry, C. A. (2007) · Elsevier eBooks · doi:10.1016/b978-1-4160-2593-1.50010-3 · Cited by 86 · see citing works

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

Scharfe, C., Lu, H. H., Neuenburg, J. K., Allen, E. A., Li, G.-C., Klopstock, T., Cowan, T. M., Enns, G. M., & Davis, R. W. (2009) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000374 · Cited by 85 · see citing works

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

Treff, N. R., Campos, J., Tao, X., Levy, B., Ferry, K. M., & Scott, R. T. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.07.1119 · Cited by 84 · see citing works

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Pitceathly, R. D. S., Smith, C., Fratter, C., Alston, C. L., He, L., Craig, K., Blakely, E. L., Evans, J., Taylor, J. M., Shabbir, Z., et al. (2012) · Brain · doi:10.1093/brain/aws231 · Cited by 81 · see citing works

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

Wang, J., Cui, H., Lee, N., Hwu, W., Chien, Y., Craigen, W. J., Wong, L. C., & Zhang, V. W. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.104 · Cited by 80 · see citing works

Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

Wong, L. C., Dimmock, D., Geraghty, M. T., Quan, R., Lichter‐Konecki, U., Wang, J., Brundage, E. K., Scaglia, F., & Chinault, A. C. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2008.103721 · Cited by 78 · see citing works

Next generation molecular diagnosis of mitochondrial disorders

Wong, L. C. (2013) · Mitochondrion · doi:10.1016/j.mito.2013.02.001 · Cited by 75 · see citing works

No spontaneous second wind in muscle phosphofructokinase deficiency

Haller, R. G., & Vissing, J. (2004) · Neurology · doi:10.1212/wnl.62.1.82 · Cited by 73 · see citing works

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Uusimaa, J., Evans, J., Smith, C., Butterworth, A., Craig, K., Ashley, N., Liao, C., Carver, J. G., Diot, A., Macleod, L., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.112 · Cited by 71 · see citing works

Next‐generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Vasta, V., Merritt, J. L., Saneto, R. P., & Hahn, S. H. (2012) · Pediatrics International · doi:10.1111/j.1442-200x.2012.03644.x · Cited by 68 · see citing works

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

McFarland, R., Taylor, R. W., Chinnery, P. F., Howell, N., & Turnbull, D. M. (2003) · Neuromuscular Disorders · doi:10.1016/j.nmd.2003.10.011 · Cited by 68 · see citing works

Current molecular diagnostic algorithm for mitochondrial disorders

Wong, L. C., Scaglia, F., Graham, B. H., & Craigen, W. J. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.02.024 · Cited by 67 · see citing works

Biochemical analysis of human POLG2 variants associated with mitochondrial disease

Young, M. J., Longley, M. J., Li, F.-Y., Kasiviswanathan, R., Wong, L.-J., & Copeland, W. C. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr209 · Cited by 66 · see citing works

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ ( POLG1 )

McFarland, R., Hudson, G., Taylor, R. W., Green, S. H., Hodges, S., McKiernan, P. J., Chinnery, P. F., & Ramesh, V. (2008) · Archives of Disease in Childhood · doi:10.1136/adc.2007.122911 · Cited by 65 · see citing works

Metabolic myopathies: a clinical approach; part I

Darras, B. T., & Friedman, N. (2000) · Pediatric Neurology · doi:10.1016/s0887-8994(99)00133-2 · Cited by 61 · see citing works

Update on Toxic Myopathies

Mastaglia, F. L., & Needham, M. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0232-9 · Cited by 59 · see citing works

Cell Biological Consequences of Mitochondrial NADH: Ubiquinone Oxidoreductase Deficiency

Smeitink, J. A. M., van den Heuvel, L., Koopman, W. J. H., Nijtmans, L. G. J., Ugalde, C., & Willems, P. H. G. M. (2004) · Current Neurovascular Research · doi:10.2174/1567202043480224 · Cited by 59 · see citing works

The Trypanosoma brucei MitoCarta and its regulation and splicing pattern during development

Zhang, X., Cui, J., Nilsson, D., Gunasekera, K., Chanfon, A., Song, X., Wang, H., Xu, Y., & Ochsenreiter, T. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq618 · Cited by 58 · see citing works

Metabolic myopathies: a clinical approach; part II

Darras, B. T., & Friedman, N. (2000) · Pediatric Neurology · doi:10.1016/s0887-8994(99)00122-8 · Cited by 56 · see citing works

Adult cases of mitochondrial DNA depletion due to TK2 defect

Béhin, A., Jardel, C., Claeys, K. G., Fagart, J., Louha, M., Romero, N. B., Laforêt, P., Eymard, B., & Lombès, A. (2012) · Neurology · doi:10.1212/wnl.0b013e318248df2b · Cited by 54 · see citing works

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome

Pecina, P., Čapková, M., Chowdhury, S. R., Drahota, Z., Dubot, A., Pecinová, A., Hansíková, H., Houšt'ková, H., Zeman, J., Godinot, C., et al. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(03)00127-3 · Cited by 54 · see citing works

Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes

Chinault, A. C., Shaw, C. A., Brundage, E. K., Tang, L.-Y., & Wong, L. C. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181abd83c · Cited by 51 · see citing works

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

Horváth, R., Schoser, B. G. H., Müller‐Höcker, J., Völpel, M., Jaksch, M., & Lochmüller, H. (2005) · Neuromuscular Disorders · doi:10.1016/j.nmd.2005.09.005 · Cited by 51 · see citing works

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

Chanprasert, S., Wang, J., Weng, S., Enns, G. M., Boué, D. R., Wong, B. L. Y., Mendell, J. R., Perry, D. A., Sahenk, Z., Craigen, W. J., et al. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.07.009 · Cited by 49 · see citing works

SURF1-associated leigh syndrome: A case series and novel mutations

Lee, I., El‐Hattab, A. W., Wang, J., Li, F.-Y., Weng, S., Craigen, W. J., & Wong, L. C. (2012) · Human Mutation · doi:10.1002/humu.22095 · Cited by 48 · see citing works

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load

Wong, L.-J. C., Perng, C.-L., Hsu, C.-H., Bai, R.-K., Schelley, S. L., Vladutiu, G. D., Vogel, H. S., & Enns, G. M. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.11.e125 · Cited by 45 · see citing works

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Talim, B., Pyle, A., Griffin, H. R., Topaloğlu, H., Tokatlı, A., Keogh, M. J., Santibanez‐Koref, M., Chinnery, P. F., & Horváth, R. (2012) · Brain · doi:10.1093/brain/aws197 · Cited by 45 · see citing works

Mitochondrial mutations and aging: random drift is insufficient to explain the accumulation of mitochondrial deletion mutants in short‐lived animals

Kowald, A., & Kirkwood, T. B. L. (2013) · Aging Cell · doi:10.1111/acel.12098 · Cited by 45 · see citing works

31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy

Jeppesen, T. D., Quistorff, B., Wibrand, F., & Vissing, J. (2007) · Journal of Neurology · doi:10.1007/s00415-006-0229-5 · Cited by 44 · see citing works

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

Yu‐Wai‐Man, P., Trenell, M. I., Hollingsworth, K., Griffiths, P. G., & Chinnery, P. F. (2010) · Brain · doi:10.1093/brain/awq288 · Cited by 44 · see citing works

Mutations in SURF1 are not specifically associated with Leigh syndrome

von Kleist-Retzow, J., YAO, J., Taanman, J., CHANTREL, K., Chrétien, D., Cormier‐Daire, V., Rötig, A., Münnich, A., Rustin, P., & Shoubridge, E. A. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.2.109 · Cited by 42 · see citing works

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Milone, M., Younge, B. R., Wang, J., Zhang, S., & Wong, L.-J. C. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.03.001 · Cited by 41 · see citing works

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

Moslemi, A. ‐., Tulinius, M., Darín, N., Åman, P., Holme, E., & Oldfors, A. (2003) · Neurology · doi:10.1212/01.wnl.0000082391.98672.0a · Cited by 40 · see citing works

Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load

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Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR

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Myositis Mimics—a Clinical Approach to a Diagnostic Challenge

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Implications of Mitochondrial Dysfunction for the Anesthetic and Perioperative Management: A Case Report of Spinal Fusion, Genetic Confusion, and a Patient’s Perspective

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The Role of Cristae Regulatory Proteins in Mitochondrial Dysfunction in an Experimentally Induced Hyperthyroidism Model

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