Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Sequence and organization of the human mitochondrial genome

Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works

the delphi method: techniques and applications

Linstone, H. A., & Turoff, M. (1975) · Bibliothèque et Archives nationales du Québec (Québec government) · Cited by 5,236 · see citing works

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

Schägger, H., & von JAGOW, G. (1991) · Analytical Biochemistry · doi:10.1016/0003-2697(91)90094-a · Cited by 2,237 · see citing works

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070 · see citing works

Mitochondrial DNA mutations in human disease

Taylor, R. W., & Turnbull, D. M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1606 · Cited by 1,866 · see citing works

The Delphi method: Techniques and applications

Martino, J. P. (1976) · Technological Forecasting and Social Change · doi:10.1016/0040-1625(76)90035-4 · Cited by 1,355 · see citing works

Biochemical and molecular investigations in respiratory chain deficiencies

Rustin, P., Chrétien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J., & Münnich, A. (1994) · Clinica Chimica Acta · doi:10.1016/0009-8981(94)90055-8 · Cited by 1,239 · see citing works

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Öztaş, S., Qiu, W.-Q., ARNOS, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., et al. (1993) · Nature Genetics · doi:10.1038/ng0793-289 · Cited by 1,190 · see citing works

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

van den Ouweland, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., & Maassen, J. A. (1992) · Nature Genetics · doi:10.1038/ng0892-368 · Cited by 1,127 · see citing works

Effect of exercise training on endothelium‐derived nitric oxide function in humans

Green, D. J., Maiorana, A., O'Driscoll, G., & Taylor, R. (2004) · The Journal of Physiology · doi:10.1113/jphysiol.2004.068197 · Cited by 1,040 · see citing works

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Holt, I. J., Harding, A. E., Petty, R., & MORGAN-HUGHES, J. A. (1990) · PubMed · Cited by 996 · see citing works

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Nishino, I., Spinazzola, A., & Hirano, M. (1999) · Science · doi:10.1126/science.283.5402.689 · Cited by 899 · see citing works

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

Leigh, D. (1951) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.14.3.216 · Cited by 795 · see citing works

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

Rahman, S., Blok, R. B., Dahl, H. ‐. M., Danks, D. M., Kirby, D. M., Chow, C. W., Christodoulou, J., & Thorburn, D. R. (1996) · Annals of Neurology · doi:10.1002/ana.410390311 · Cited by 776 · see citing works

Mitochondrial disorders as windows into an ancient organelle

Vafai, S. B., & Mootha, V. K. (2012) · Nature · doi:10.1038/nature11707 · Cited by 733 · see citing works

Paternal Inheritance of Mitochondrial DNA

Schwartz, M., & Vissing, J. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020350 · Cited by 695 · see citing works

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., & Elpeleg, O. N. (2001) · Nature Genetics · doi:10.1038/ng751 · Cited by 628 · 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

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Mootha, V. K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M. M., Hjerrild, M., DelMonte, T. A., Villeneuve, A., SLADEK, R. M., Xu, F., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242716699 · Cited by 578 · 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

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Bourdon, A., Minai, L., Serre, V., Jaïs, J., Sarzi, E., Aubert, S., Chrétien, D., de Lonlay, P., Paquis‐Flucklinger, V., Arakawa, H., et al. (2007) · Nature Genetics · doi:10.1038/ng2040 · Cited by 530 · see citing works

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain · doi:10.1093/brain/awm298 · Cited by 520 · 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

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

Yu‐Wai‐Man, P., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M., & Chinnery, P. F. (2003) · The American Journal of Human Genetics · doi:10.1086/346066 · Cited by 485 · 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

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

Lightowlers, R. N., Chinnery, P. F., Turnbull, D. M., & Howell, N. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01266-3 · Cited by 471 · see citing works

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Scheper, G. C., van der Klok, T., van Andel, R. J., van Berkel, C. G. M., Sissler, M., Smet, J., Muravina, T. I., Sv, S., Uziel, G., Bugiani, M., et al. (2007) · Nature Genetics · doi:10.1038/ng2013 · Cited by 453 · 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

Mitochondrial Diabetes

Maassen, J. A., ‘t Hart, L. M., van Essen, E., Heine, R. J., Nijpels, G., Jahangir Tafrechi, R. S., Raap, A. K., Janssen, G. M. C., & Lemkes, H. H. P. J. (2004) · Diabetes · doi:10.2337/diabetes.53.2007.s103 · Cited by 439 · see citing works

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain · doi:10.1093/brain/awm272 · Cited by 428 · see citing works

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70155-7 · Cited by 427 · see citing works

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R. M., Donnini, C., Weiher, H., Strisciuglio, P., et al. (2006) · Nature Genetics · doi:10.1038/ng1765 · Cited by 427 · see citing works

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gene

Horváth, R. (2006) · Brain · doi:10.1093/brain/awl088 · Cited by 409 · see citing works

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Hirano, M., Silvestri, G., Blake, D. M., Lombès, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertoríni, T. E., et al. (1994) · Neurology · doi:10.1212/wnl.44.4.721 · Cited by 403 · see citing works

Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population

Majamaa, K., Moilanen, J. S., Uimonen, S., Remes, A. M., Salmela, P. I., Kärppä, M., Majamaa‐Voltti, K., Rusanen, H., Sorri, M., PEUHKURINEN, K. J., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301959 · Cited by 385 · see citing works

The in-depth evaluation of suspected mitochondrial disease

Haas, R., Parikh, S., Falk, M. J., Saneto, R. P., Wolf, N. I., Darín, N., Wong, L.-J. C., Cohen, B. H., & Naviaux, R. K. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.11.018 · Cited by 363 · see citing works

Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

Sproule, D. M., & Kaufmann, P. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1444.011 · Cited by 352 · see citing works

The clinical maze of mitochondrial neurology

DiMauro, S., Schon, E. A., Carelli, V., & Hirano, M. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.126 · Cited by 351 · 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

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

He, L. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf067 · Cited by 320 · see citing works

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Gempel, K. E., Topaloğlu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V., Pálmafy, B., Kale, G., Tokatlı, A., Quinzii, C. M., et al. (2007) · Brain · doi:10.1093/brain/awm054 · Cited by 313 · see citing works

l -Arginine improves the symptoms of strokelike episodes in MELAS

Koga, Y., Akita, Y., Nishioka, J., Yatsuga, S., Povalko, N., Tanabe, Y., Fujimoto, S., & Matsuishi, T. (2005) · Neurology · doi:10.1212/01.wnl.0000151976.60624.01 · Cited by 310 · see citing works

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

Patel, K. P., O'Brien, T. W., Subramony, S. H., Shuster, J., & Stacpoole, P. W. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.09.032 · Cited by 278 · see citing works

Mitochondrial disease criteria

Morava, É., van den Heuvel, L. P., Hol, F. A., de Vries, M. C., Hogeveen, M., Rodenburg, R. J., & Smeitink, J. A. M. (2006) · Neurology · doi:10.1212/01.wnl.0000244435.27645.54 · Cited by 275 · see citing works

A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness

Jin, H., May, M. M., Tranebjærg, L., et al. (1996) · Nature Genetics · doi:10.1038/ng1096-177 · Cited by 271 · see citing works

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness

Reid, F. M., Vernham, G. A., & Jacobs, H. T. (1994) · Human Mutation · doi:10.1002/humu.1380030311 · Cited by 266 · see citing works

<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J. J., De Jonghe, P., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000140494.58732.83 · Cited by 261 · see citing works

Beneficial effects of creatine, CoQ₁₀, and lipoic acid in mitochondrial disorders

Rodriguez, M. C., MacDonald, J. R., Mahoney, D. J., Parise, G., Beal, M. F., & Tarnopolsky, M. A. (2007) · Muscle &amp; Nerve · doi:10.1002/mus.20688 · Cited by 255 · 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

l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

Ribas, G. S., Vargas, C. R., & Wajner, M. (2013) · Gene · doi:10.1016/j.gene.2013.10.017 · Cited by 247 · see citing works

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 · see citing works

Neuroimaging of mitochondrial disease

Saneto, R. P., Friedman, S. D., & Shaw, D. (2008) · Mitochondrion · doi:10.1016/j.mito.2008.05.003 · Cited by 236 · see citing works

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Spinazzola, A., Martí, R., Nishino, I., Andreu, A. L., Naini, A., Tadesse, S., Pela, I., Zammarchi, E., Donati, M. A., Oliver, J. A., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m111028200 · Cited by 233 · see citing works

Mitochondrial disorders

Wolf, N. I., & Smeitink, J. A. M. (2002) · Neurology · doi:10.1212/01.wnl.0000031795.91814.d8 · Cited by 232 · see citing works

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Pierson, T. M., Adams, D. R., Bonn, F., Martinelli, P., Cherukuri, P. F., Teer, J. K., Hansen, N. F., Cruz, P., Mullikin, J. C., Blakesley, R. W., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002325 · Cited by 226 · see citing works

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

Taivassalo, T., Gardner, J. L., Taylor, R. W., Schaefer, A. M., Newman, J., Barron, M. J., Haller, R. G., & Turnbull, D. M. (2006) · Brain · doi:10.1093/brain/awl282 · Cited by 220 · see citing works

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Steenweg, M. E., Ghezzi, D., Haack, T. B., Abbink, T. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A. E., Diogo, L. M., Grillo, E., Naudé, J. T. W., et al. (2012) · Brain · doi:10.1093/brain/aws070 · Cited by 216 · see citing works

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 · see citing works

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 · see citing works

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., et al. (2007) · Brain · doi:10.1093/brain/awl389 · Cited by 208 · see citing works

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene

Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.8.1421 · Cited by 208 · see citing works

Epidemiology and treatment of mitochondrial disorders

Chinnery, P. F., & Turnbull, D. M. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1426 · Cited by 202 · see citing works

Neuroradiologic findings in children with mitochondrial disorders.

Valanne, L. K., Ketonen, L., Majander, A. S., et al. (1998) · PubMed · Cited by 195 · see citing works

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Hudson, G., Keers, S. M., Yu‐Wai‐Man, P., Griffiths, P. G., Huoponen, K., Savontaus, M., Nikoskelainen, E. K., Zeviani, M., Carrara, F., Horváth, R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/498176 · Cited by 193 · see citing works

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

Guan, M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.6.573 · Cited by 193 · see citing works

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

Patel, K. P., O’Brien, T. W., Subramony, S. H., Shuster, J. J., & Stacpoole, P. W. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.03.017 · Cited by 193 · see citing works

Limb Immobilization Induces a Coordinate Down-Regulation of Mitochondrial and Other Metabolic Pathways in Men and Women

Abadi, A., Glover, E. I., Isfort, R. J., Raha, S., Safdar, A., Yasuda, N., Kaczor, J. J., Melov, S., Hubbard, A., Qu, X., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006518 · Cited by 189 · see citing works

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Dunø, M., Shoubridge, E., & Wibrand, F. (2007) · American Journal of Human Genetics · doi:10.1086/519222 · Cited by 185 · see citing works

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., et al. (2003) · Annals of Neurology · doi:10.1002/ana.10787 · Cited by 180 · see citing works

A homoplasmic mitochondrial transfer Ribonucleic Acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

Taylor, R. W., Giordano, C., Davidson, M. M., d’Amati, G., Bain, H. H., Hayes, C. M., Leonard, H., Barron, M. J., Casali, C., Santorelli, F. M., et al. (2003) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(03)00300-0 · Cited by 179 · see citing works

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

Namavar, Y., Barth, P. G., Poll‐The, B. T., & Baas, F. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-50 · Cited by 178 · see citing works

Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough

McFarland, R., Elson, J. L., Taylor, R. W., et al. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.09.014 · Cited by 176 · see citing works

Respiratory Chain Encephalomyopathies: A Diagnostic Classification

Walker, U. A., Collins, S. J., & Byrne, E. (2008) · European Neurology · doi:10.1159/000117269 · Cited by 175 · see citing works

Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines

Margineantu, D. H., Cox, W. G., Sundell, L., Sherwood, S. W., Beechem, J., & Capaldi, R. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00006-5 · Cited by 173 · see citing works

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

McFarland, R., Clark, K. M., Morris, A. A. M., Taylor, R. W., Macphail, S., Lightowlers, R. N., & Turnbull, D. M. (2002) · Nature Genetics · doi:10.1038/ng819 · Cited by 170 · 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

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A. M., Turnbull, D. M., & Bindoff, L. A. (1995) · Brain · doi:10.1093/brain/118.2.339 · Cited by 166 · see citing works

New treatments for mitochondrial disease—no time to drop our standards

Pfeffer, G., Horváth, R., Klopstock, T., Mootha, V. K., Suomalainen, A., Koene, S., Hirano, M., Zeviani, M., Bindoff, L. A., Yu‐Wai‐Man, P., et al. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.129 · Cited by 166 · see citing works

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Bayat, V., Thiffault, I., Jaiswal, M., Tétreault, M., Donti, T., Sasarman, F., Bernard, G., Demers-Lamarche, J., Dicaire, M., Mathieu, J., et al. (2012) · PLoS Biology · doi:10.1371/journal.pbio.1001288 · Cited by 165 · see citing works

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA Ser(UCN) gene

Sue, C. M., Tanji, K., Hadjigeorgiou, G. M., et al. (1999) · Neurology · doi:10.1212/wnl.52.9.1905 · Cited by 164 · see citing works

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Goethem, G. V., Schwartz, M., Löfgren, A., Dermaut, B., Broeckhoven, C. V., & Vissing, J. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201002 · Cited by 161 · see citing works

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

El‐Hattab, A. W., Hsu, J. W.-C., Emrick, L., Wong, L. C., Craigen, W. J., Jahoor, F., & Scaglia, F. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.01.016 · Cited by 160 · see citing works

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Pineda, M., Ormazábal, A., López‐Gallardo, E., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20746 · Cited by 159 · see citing works

The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies

Tarnopolsky, M. A. (2008) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2008.05.001 · Cited by 158 · see citing works

Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

Bohlega, S., Tanji, K., Santorelli, F. M., Hirano, M., al-Jishi, A., & DiMauro, S. (1996) · Neurology · doi:10.1212/wnl.46.5.1329 · Cited by 152 · see citing works

Shaping the mitochondrial proteome

Gabaldón, T., & Huynen, M. A. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.07.011 · Cited by 150 · see citing works

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

de Laat, P., Koene, S., den van Heuvel, L. P. W. J., Rodenburg, R. J., Janssen, M. C. H., & Smeitink, J. A. M. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9465-2 · Cited by 146 · see citing works

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Arnold, G. L., Hove, J. V., Freedenberg, D. L., Strauss, A. W., Longo, N., Burton, B. K., Garganta, C. L., Ficicioglu, C. H., Cederbaum, S. D., Harding, C. O., et al. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2008.09.008 · Cited by 146 · see citing works

Effect of Anesthetics on Mitochondrial Function

Cohen, P. J. (1973) · Anesthesiology · doi:10.1097/00000542-197308000-00007 · Cited by 145 · see citing works

Mitochondrial Disorders Overview

Chinnery, P. F. (2014) · Cited by 142 · see citing works

Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis

Sue, C. M., Crimmins, D. S., Soo, Y. S., Pamphlett, R., Presgrave, C. M., Kotsimbos, N., Jean-François, M. J. B., Byrne, E., & Morris, J. G. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.65.2.233 · Cited by 139 · see citing works

Effects of aerobic training in patients with mitochondrial myopathies

Taivassalo, T., Stefano, N. D., Argov, Z., Matthews, P. M., Chen, J., Genge, A. L., Karpati, G., & Arnold, D. L. (1998) · Neurology · doi:10.1212/wnl.50.4.1055 · Cited by 139 · see citing works

Approaches to the treatment of mitochondrial diseases

DiMauro, S., Hirano, M., & Schon, E. A. (2006) · Muscle & Nerve · doi:10.1002/mus.20598 · Cited by 138 · see citing works

A randomized trial of coenzyme Q 10 in mitochondrial disorders

Glover, E. I., Martin, J. C., Maher, A. C., Thornhill, R. E., Moran, G. R., & Tarnopolsky, M. A. (2010) · Muscle & Nerve · doi:10.1002/mus.21758 · Cited by 137 · see citing works

Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.

Stone, E. M., Newman, N. J., Miller, N. R., Johns, D. R., Lott, M. T., & Wallace, D. C. (1992) · PubMed · Cited by 135 · 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

Mitochondrial Myopathies: Diagnosis, Exercise Intolerance, and Treatment Options

Tarnopolsky, M. A., & Raha, S. (2005) · Medicine & Science in Sports & Exercise · doi:10.1249/01.mss.0000177341.89478.06 · Cited by 134 · 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

MELAS syndrome with mitochondrial tRNA Leu[UUR] mutation

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) · Neurology · doi:10.1212/wnl.42.11.2147 · Cited by 124 · see citing works

Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?

Liolitsa, D., Rahman, S., Benton, S., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10435 · Cited by 123 · see citing works

MELAS and l-arginine therapy

Koga, Y., Akita, Y., Nishioka, J., Yatsuga, S., Povalko, N., Katayama, K., & Matsuishi, T. (2006) · Mitochondrion · doi:10.1016/j.mito.2006.11.006 · Cited by 115 · see citing works

Functional assays in high‐resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

Wittig, I., Carrozzo, R., Santorelli, F. M., et al. (2007) · Electrophoresis · doi:10.1002/elps.200700367 · Cited by 110 · see citing works

Neuroimaging of stroke-like episodes in MELAS

Ito, H., Mori, K., & Kagami, S. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.06.010 · Cited by 109 · see citing works

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

Cohen, B. H., & Naviaux, R. K. (2010) · Methods · doi:10.1016/j.ymeth.2010.05.008 · Cited by 107 · see citing works

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

van den Bosch, B. J. C. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.20.e89 · Cited by 106 · see citing works

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

Thorburn, D. R., Sugiana, C., Salemi, R., Kirby, D. M., Worgan, L. C., Ohtake, A., & Ryan, M. T. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.08.006 · Cited by 104 · see citing works

Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”

Naini, A., Kaufmann, P., Shanske, S., Engelstad, K., Vivo, D. C. D., & Schon, E. A. (2004) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2004.11.026 · Cited by 103 · see citing works

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease

Davis, R. L., Liang, C., Edema‐Hildebrand, F., Riley, C., Needham, M., & Sue, C. M. (2013) · Neurology · doi:10.1212/01.wnl.0000436068.43384.ef · Cited by 100 · see citing works

Swimming Training Induces Liver Mitochondrial Adaptations to Oxidative Stress in Rats Submitted to Repeated Exhaustive Swimming Bouts

Lima, F. D., Stamm, D. N., Della-Pace, I. D., Dobrachinski, F., de Carvalho, N. R., Royes, L. F. F., Soares, F. A. A., da Rocha, J. B. T., González‐Gallego, J., & Bresciani, G. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055668 · Cited by 99 · see citing works

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

Wortmann, S. B., Rodenburg, R. J., Jonckheere, A. I., et al. (2008) · Brain · doi:10.1093/brain/awn296 · Cited by 98 · see citing works

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

Atkuri, K. R., Cowan, T. M., Kwan, T., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813409106 · Cited by 98 · see citing works

URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

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) · Neurology · doi:10.1212/01.wnl.0000342121.91336.4d · Cited by 98 · see citing works

Treatment of complex I deficiency with riboflavin

Bernsen, P. L. J. A., Gabreëls, F. J. M., Ruitenbeek, W., & Hamburger, H. (1993) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(93)90108-b · Cited by 97 · see citing works

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blasér, S., Prasad, C., Häberle, J., Barić, I., Bakker, I. M. C., Postma, N. L., et al. (2013) · Brain · doi:10.1093/brain/awt054 · Cited by 97 · see citing works

Exercise training in mitochondrial myopathy: A randomized controlled trial

Cejudo, P., Bautista, J., Montemayor, T., Villagómez, R., Jiménez, L., Ruiz, F. Ó., Campos, Y., Sánchez, H., & Arenas, J. (2005) · Muscle & Nerve · doi:10.1002/mus.20368 · Cited by 97 · see citing works

Review of clinical trials for mitochondrial disorders: 1997-2012

Kerr, D. S. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0176-7 · Cited by 96 · see citing works

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

McDonnell, M. T., Schaefer, A. M., Blakely, E. L., McFarland, R., Chinnery, P. F., Turnbull, D. M., & Taylor, R. W. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201216 · Cited by 96 · see citing works

White matter involvement in mitochondrial diseases

Lerman‐Sagie, T., Leshinsky‐Silver, E., Watemberg, N. M., Luckman, Y., & Lev, D. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.008 · Cited by 95 · see citing works

Genetic and evolutionary consequences of symbiosis

Margulis, L. (1976) · Experimental Parasitology · doi:10.1016/0014-4894(76)90127-2 · Cited by 95 · see citing works

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

Gerards, M., Kamps, R., Vanoevelen, J. M., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K. C., Sefiani, A., et al. (2013) · Brain · doi:10.1093/brain/awt013 · Cited by 95 · see citing works

Mitochondrial disorders and general anaesthesia: a case series and review

Footitt, E. J., Sinha, M., Raiman, J., et al. (2008) · British Journal of Anaesthesia · doi:10.1093/bja/aen014 · Cited by 95 · see citing works

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Carrozzo, R., Tessa, A., Vázquez-Memije, M. E., et al. (2001) · Neurology · doi:10.1212/wnl.56.5.687 · Cited by 94 · see citing works

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

Meırleır, L. D., Seneca, S., Damis, E., Sepulchre, B., Hoorens, A., Gerlo, E., Silva, M. T. G., Martín‐Hernández, E., Lissens, W., & Coster, R. V. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20171 · Cited by 93 · see citing works

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

Marriage, B. J., Clandinin, M. T., MacDonald, I. M., & Glerum, D. M. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2003.12.008 · Cited by 92 · see citing works

The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease

Haas, R. H. (2007) · Mitochondrion · doi:10.1016/j.mito.2007.03.008 · Cited by 92 · see citing works

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

Rahman, S., Clarke, C. F., & Hirano, M. (2011) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.05.001 · Cited by 92 · see citing works

MRI of the brain in the Kearns- Sayre syndrome: report of four cases and a review

Chu, B., Terae, S., Takahashi, C., et al. (1999) · Neuroradiology · doi:10.1007/s002340050838 · Cited by 91 · see citing works

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Laforêt, P., Acquaviva, C., Rigal, O., et al. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.02.007 · Cited by 91 · see citing works

Leber hereditary optic neuropathy in Australia

Mackey, D. A., & Buttery, R. (1992) · Australian and New Zealand Journal of Ophthalmology · doi:10.1111/j.1442-9071.1992.tb00937.x · Cited by 91 · see citing works

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Sacconi, S., Trevisson, E., Salviati, L., Aymé, S., Rigal, O., García‐Redondo, A., Mancuso, M., Siciliano, G., Tonin, P., Angelini, C. I., et al. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.10.014 · Cited by 90 · see citing works

A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

Santorelli, F. M., Shanske, S., Jain, K., Tick, D. B., Schon, E. A., & DiMauro, S. (1994) · Neurology · doi:10.1212/wnl.44.5.972 · Cited by 89 · see citing works

Protein import into mitochondria: origins and functions today (Review)

Lister, R., Hulett, J. M., Lithgow, T. J., & Whelan, J. (2005) · Molecular Membrane Biology · doi:10.1080/09687860500041247 · Cited by 89 · see citing works

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Kevelam, S. H., Rodenburg, R. J., Wolf, N. I., Ferreira, P. C., Lunsing, R. J., Nijtmans, L. G. J., Mitchell, A., Arroyo, H. A., Rating, D., Vanderver, A. L., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31828f1914 · Cited by 89 · see citing works

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

McCormick, E. M., Place, E., & Falk, M. J. (2012) · Neurotherapeutics · doi:10.1007/s13311-012-0174-1 · Cited by 88 · see citing works

Action of halothane upon mitochondrial respiration

Harris, R. A., Munroe, J., Farmer, B. B., Kim, K. C., & Jenkins, P. (1971) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(71)90507-8 · Cited by 88 · see citing works

Mechanisms of Inhibition and Uncoupling of Respiration in Isolated Rat Liver Mitochondria by the General Anesthetic 2,6‐Diisopropylphenol

Kigoulet, M., Devin, A., Avéret, N., Vandais, B., & Guérin, B. (1996) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1996.0280t.x · Cited by 87 · see citing works

Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes

Zupanc, M. L., Moraes, C. T., Shanske, S., et al. (1991) · Annals of Neurology · doi:10.1002/ana.410290619 · Cited by 87 · see citing works

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders

Sternberg, D. (2001) · Brain · doi:10.1093/brain/124.5.984 · Cited by 86 · see citing works

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec

Braekeleer, M. D., Giasson, F., Mathieu, J., et al. (1993) · Genetic Epidemiology · doi:10.1002/gepi.1370100103 · Cited by 85 · see citing works

Anesthesia‐related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects

Driessen, J. J., Willems, S. A. A., DERCKSEN, S., et al. (2006) · Pediatric Anesthesia · doi:10.1111/j.1460-9592.2006.02043.x · Cited by 84 · see citing works

Kearns‐sayre syndrome with reduced plasma and cerebrospinal fluid folate

Allen, R. J., DiMauro, S., Coulter, D. L., et al. (1983) · Annals of Neurology · doi:10.1002/ana.410130620 · Cited by 84 · see citing works

Clinical recognition and aspects of the cerebral folate deficiency syndromes

Ramaekers, V. T., Sequeira, J. M., & Quadros, E. V. (2013) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2012-0543 · Cited by 83 · see citing works

Hematological Manifestations of Primary Mitochondrial Disorders

Finsterer, J. (2007) · Acta Haematologica · doi:10.1159/000105676 · Cited by 81 · see citing works

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

Filosto, M., Mancuso, M., Vives-Bauzá, C., et al. (2003) · Annals of Neurology · doi:10.1002/ana.10709 · Cited by 81 · see citing works

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

Hasselmann, O., Blau, N., Ramaekers, V. T., et al. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.08.005 · Cited by 81 · 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

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

Bataillard, M., Chatzoglou, E., Rumbach, L., et al. (2001) · Neurology · doi:10.1212/wnl.56.3.405 · Cited by 76 · 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

An Oligonucleotide Microarray for High-Throughput Sequencing of the Mitochondrial Genome

Zhou, S., Kassauei, K., Cutler, D. J., Kennedy, G. C., Sidransky, D., Maitra, A., & Califano, J. A. (2006) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.060008 · Cited by 74 · see citing works

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

Arnold, G. L., Koeberl, D. D., Matern, D., et al. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.11.002 · Cited by 71 · see citing works

Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment

Hargreaves, I. P., Sheena, Y., Land, J. M., & Heales, S. (2005) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-4160-1 · Cited by 68 · see citing works

Diagnosis of mitochondrial DNA depletion syndromes

Rahman, S., & Poulton, J. (2008) · Archives of Disease in Childhood · doi:10.1136/adc.2008.147983 · 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

Effects of general anaesthetic procedures on mitochondrial function of human skeletal muscle

Miró, Ò., Barrientos, A., Alonso, J. R., Casademont, J., Jarreta, D., Urbano-Márquez, A., & Cardellach, F. (1999) · European Journal of Clinical Pharmacology · doi:10.1007/s002280050589 · Cited by 67 · see citing works

Metabolomic approaches to mitochondrial disease: correlation of urine organic acids

Barshop, B. A. (2004) · Mitochondrion · doi:10.1016/j.mito.2004.07.010 · Cited by 66 · see citing works

The significance of elevated CSF lactate

Chow, S. L. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2005.075317 · Cited by 66 · see citing works

Phenotypic Expression of Diabetes Secondary to a T14709C Mutation of Mitochondrial DNA: Comparison with MIDD syndrome (A3243G mutation): a case report

Vialettes, B., Paquis‐Flucklinger, V., Pelissier, J.-F., et al. (1997) · Diabetes Care · doi:10.2337/diacare.20.11.1731 · Cited by 65 · see citing works

Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing

Tarnopolsky, M. A., Stevens, L., MacDonald, J. R., Rodriguez, C., Mahoney, D. J., Rush, J. W. E., & Maguire, J. A. (2003) · Muscle & Nerve · doi:10.1002/mus.10330 · Cited by 64 · see citing works

Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations

Moraes, C. T., Atencio, D. P., Oca‐Cossio, J., & Díaz, F. (2003) · Journal of Molecular Diagnostics · doi:10.1016/s1525-1578(10)60474-6 · Cited by 62 · see citing works

Mitochondrial Encephalomyopathies: Therapeutic Approach

DiMauro, S., Mancuso, M., & Naini, A. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1293.023 · Cited by 61 · see citing works

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

Marin, S. E., Mesterman, R., ROBINSON, B. J., Rodenburg, R. J., Smeitink, J. A. M., & Tarnopolsky, M. A. (2012) · Gene · doi:10.1016/j.gene.2012.12.024 · Cited by 59 · see citing works

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Serrano, M., García‐Silva, M. T., Martín‐Hernández, E., O’Callaghan, M. D. M., Quijada, P., de Aragón, A. M., Ormazábal, A., Blázquez, A., Martín, M. A., Briones, P., et al. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.04.001 · Cited by 58 · see citing works

Nutritional and exercise-based therapies in the treatment of mitochondrial disease

Mahoney, D. J., Parise, G., & Tarnopolsky, M. A. (2002) · Current Opinion in Clinical Nutrition & Metabolic Care · doi:10.1097/00075197-200211000-00004 · Cited by 57 · see citing works

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

Leshinsky‐Silver, E., Lèbre, A.-S., Minai, L., et al. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.03.002 · Cited by 57 · see citing works

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Falk, M. J., Pierce, E. A., Consugar, M. B., Xie, H. M., Guadalupe, M., Hardy, O., Rappaport, E. F., Wallace, D. C., LeProust, E. M., & Gai, X. (2012) · PubMed · Cited by 56 · see citing works

Mitochondrial DNA diseases: Genotype and phenotype in leber's hereditary optic neuropathy

Harding, A. E., Riordan‐Eva, P., & Govan, G. G. (1995) · Muscle & Nerve · doi:10.1002/mus.880181417 · Cited by 55 · see citing works

Clinical spectrum of the MELAS mutation in a large pedigree

Damian, M. S., Seibel, P., Reichmann, H., et al. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.1995.tb00156.x · Cited by 55 · see citing works

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

Ito, S., Shirai, W., Asahina, M., et al. (2007) · American Journal of Neuroradiology · doi:10.3174/ajnr.a0865 · Cited by 54 · see citing works

Evaluation of the Child With Suspected Mitochondrial Liver Disease

Molleston, J. P., Sokol, R. J., Karnsakul, W. W., Miethke, A. G., Horslen, S. P., Magee, J. C., Romero, R., Squires, R. H., & Hove, J. L. K. V. (2013) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31829ef67a · Cited by 53 · see citing works

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease

Bates, M. G. D., Newman, J. H., Jakovljević, D. G., Hollingsworth, K. G., Alston, C. L., Zalewski, P., Klawe, J. J., Blamire, A. M., MacGowan, G. A., Keavney, B. D., et al. (2013) · International Journal of Cardiology · doi:10.1016/j.ijcard.2013.05.062 · Cited by 52 · 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

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

El‐Hattab, A. W., Emrick, L., Chanprasert, S., Craigen, W. J., & Scaglia, F. (2014) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2013.12.009 · Cited by 51 · see citing works

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa

Kerr, R. A., Stevens, G., Manga, P., Salm, S. N., John, P. R., Haw, T., & Ramsay, M. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200002)15:2 · Cited by 50 · 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

Mitochondrial Complex I Encephalomyopathy and Cerebral 5-Methyltetrahydrofolate Deficiency

Ramaekers, V. T., Weis, J., Sequeira, J., et al. (2007) · Neuropediatrics · doi:10.1055/s-2007-991150 · Cited by 49 · see citing works

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Takata, A., Kato, M., Nakamura, M., Yoshikawa, T., Kanba, S., Sano, A., & Kato, T. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-r92 · Cited by 49 · see citing works

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Parikh, S., Goldstein, A. C., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R. P., Anselm, I. A., Collins, A. R., Cohen, B. H., DeBrosse, S. D., et al. (2013) · Mitochondrion · doi:10.1016/j.mito.2013.09.003 · Cited by 47 · see citing works

Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing

Coon, K. D., Valla, J., Szelinger, S., Schneider, L. E., Niedzielko, T. L., Brown, K. M., Pearson, J. V., Halperin, R. F., Dunckley, T. L., Papassotiropoulos, A., et al. (2006) · Mitochondrion · doi:10.1016/j.mito.2006.07.002 · Cited by 47 · see citing works

Metabolic Effects of Propofol in the Isolated Perfused Rat Liver

Acco, A., Comar, J. F., & Bracht, A. (2004) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/j.1742-7843.2004.pto950404.x · Cited by 47 · see citing works

Short- and long-term effects of endurance training in patients with mitochondrial myopathy

Jeppesen, T. D., Dunø, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F., & Vissing, J. (2009) · European Journal of Neurology · doi:10.1111/j.1468-1331.2009.02660.x · Cited by 46 · see citing works

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

van den Heuvel, L. P., Smeitink, J. A. M., & Rodenburg, R. J. (2004) · Mitochondrion · doi:10.1016/j.mito.2004.07.005 · Cited by 46 · see citing works

Correlation between clinical and molecular features in two MELAS families

Martinuzzi, A., Bartolomei, L., Carrozzo, R., Mostacciuolo, M. L., Carbonin, C., Toso, V., Ciafaloni, E., Shanske, S., DiMauro, S., & Angelini, C. I. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90250-o · Cited by 45 · see citing works

Tissue distribution and disease manifestations of the tRNALys A?G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

Oldfors, A., Holme, E., Tulinius, M., & Larsson, N. (1995) · Acta Neuropathologica · doi:10.1007/bf00296519 · Cited by 43 · see citing works

Mitochondrial DNA Deletion Syndromes

DiMauro, S., & Hirano, M. (2011) · Cited by 42 · see citing works

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Vanlander, A. V., Jorens, P. G., Smet, J., et al. (2012) · Acta Anaesthesiologica Scandinavica · doi:10.1111/j.1399-6576.2011.02628.x · Cited by 42 · see citing works

Acute Respiratory Failure Precipitated by General Anesthesia in Leigh's Syndrome

Grattan‐Smith, P. J., Shield, L. K., Hopkins, I. J., et al. (1990) · Journal of Child Neurology · doi:10.1177/088307389000500214 · Cited by 42 · see citing works

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies

Siciliano, G., Simoncini, C., Gerfo, A. L., Orsucci, D., Ricci, G., & Mancuso, M. (2012) · Neuromuscular Disorders · doi:10.1016/j.nmd.2012.10.005 · Cited by 42 · see citing works

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Lamperti, C., Fang, M., Invernizzi, F., Liu, X., Wang, H., Zhang, Q., Carrara, F., Moroni, I., Zeviani, M., Zhang, J.-G., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.08.020 · Cited by 40 · see citing works

Metabolic Acidosis due to Propofol Infusion

Farag, E. S., DeBoer, G. E., Cohen, B. H., et al. (2005) · Anesthesiology · doi:10.1097/00000542-200503000-00042 · Cited by 40 · see citing works

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Parikh, S., Goldstein, A. C., Koenig, M. K., et al. (2013) · Mitochondrion · doi:10.1016/j.mito.2013.07.116 · Cited by 38 · see citing works

Muscle coenzyme Q10 in mitochondrial encephalomyopathies

Matsuoka, T., Maeda, H., Goto, Y., & Nonaka, I. (1991) · Neuromuscular Disorders · doi:10.1016/0960-8966(91)90007-f · Cited by 37 · see citing works

Metabolic biology of 3‐methylglutaconic acid‐uria: a new perspective

Su, B., & Ryan, R. O. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-013-9669-0 · Cited by 35 · see citing works

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

de Coo, I. F. M., Sistermans, E. A., de Wijs, I. J., et al. (1998) · Neurology · doi:10.1212/wnl.50.1.293 · Cited by 35 · see citing works

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

Saunier, P., Chrétien, D., Wood, C., et al. (1995) · Neuromuscular Disorders · doi:10.1016/0960-8966(94)00071-g · Cited by 33 · see citing works

Muscle Pain, Fatigue, and Mitochondriopathies

Griggs, R. C., & Karpati, G. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909303411411 · Cited by 33 · see citing works

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Goldenthal, M. J., Kuruvilla, T., Damle, S., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.11.193 · Cited by 32 · see citing works

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Camp, K. M., Krotoski, D., Parisi, M. A., Gwinn, K. A., Cohen, B. H., Cox, C. S., Enns, G. M., Falk, M. J., Goldstein, A. C., Gopal-Srivastava, R., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.09.002 · Cited by 59 · see citing works

Metabolic Myopathies

Tarnopolsky, M. A. (2016) · Continuum · doi:10.1212/con.0000000000000403 · Cited by 61 · see citing works

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

Hannah-Shmouni, F., MacNeil, L., Brady, L., Nilsson, M. I., & Tarnopolsky, M. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00981 · Cited by 19 · see citing works

FDXR variants cause adrenal insufficiency and atypical sexual development

Pignatti, E., Slone, J., Gómez Cano, M. Á., Campbell, T. M., Vu, J., Sauter, K.-S., Pandey, A. V., Martínez-Azorín, F., Alonso-Riaño, M., Neilson, D. E., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.179071 · Cited by 12 · see citing works

Attempts to understand the mechanisms of mitochondrial diseases: the reverse genetics of mouse models for mitochondrial disease

Ishikawa, K., & Nakada, K. (2021) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2020.129835 · Cited by 9 · see citing works

Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle <i>Tfam-</i>knockout mouse model

Chatel, B., Ducreux, S., Harhous, Z., Bendridi, N., Varlet, I., Ogier, A. C., Bernard, M., Gondin, J., Rieusset, J., Westerblad, H., et al. (2021) · Disease Models &amp; Mechanisms · doi:10.1242/dmm.048981 · Cited by 8 · see citing works

An analysis of prior delphi applications and some observations on its future applicability

Brockhaus, W. L., & Mickelsen, J. F. (1977) · Technological Forecasting and Social Change · doi:10.1016/0040-1625(77)90010-5 · Cited by 35 · see citing works

Applications of the Delphi method in China

Chen, Y., Dong-hua, Z., & Chang-geng, L. (1990) · Technological Forecasting and Social Change · doi:10.1016/0040-1625(90)90075-7 · Cited by 12 · see citing works

A Delphi Study of Regional Industrial Land-Use

Ervin, O. L. (1977) · Review of Regional Studies · doi:10.52324/001c.10230 · Cited by 5 · see citing works

Enhancing a Delphi study on family-focused prevention

Engels, T., & Kennedy, H. P. (2006) · Technological Forecasting and Social Change · doi:10.1016/j.techfore.2005.11.008 · Cited by 48 · see citing works

FACULTY CONSENSUS AT A MULTI‐CAMPUS COLLEGE THROUGH DELPHI

Dailey, A. L. (1988) · Community Junior College Research Quarterly of Research and Practice · doi:10.1080/0361697880120102 · Cited by 9 · see citing works