Mitochondrial disease in adults: what's old and what's new?

Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440 · see citing works

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,845 · see citing works

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics · doi:10.1038/79944 · Cited by 1,330 · see citing works

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Gorman, G., Schaefer, A., Ng, Y., Gomez, N., Blakely, E., Alston, C., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24362 · Cited by 921 · 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

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

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Casari, G., Fusco, M. D., Ciarmatori, S., Zeviani, M., Mora, M., Fernández‐Silva, P., Michele, G. D., Filla, A., Cocozza, S., Marconi, R., et al. (1998) · Cell · doi:10.1016/s0092-8674(00)81203-9 · Cited by 826 · 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

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., & Chinnery, P. F. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.07.004 · Cited by 629 · 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

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

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.

Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., et al. (2011) · Brain · doi:10.1093/brain/awr170 · Cited by 578 · see citing works

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Luoma, P., Melberg, A., Rinne, J. O., Kaukonen, J. A., Nupponen, N. N., Chalmers, R. M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16983-3 · Cited by 548 · 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

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

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

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

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

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

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Taylor, R. W., Pyle, A., Griffin, H. R., Blakely, E. L., Duff, J., He, L., Smertenko, T., Alston, C. L., Neeve, V. C. M., Best, A. J., et al. (2014) · JAMA · doi:10.1001/jama.2014.7184 · Cited by 366 · see citing works

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

Leonard, J., & Schapira, A. H. V. (2000) · The Lancet · doi:10.1016/s0140-6736(99)05225-3 · Cited by 365 · see citing works

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 · see citing works

Mitochondrial dysfunction in aging: Much progress but many unresolved questions

Payne, B. A. I., & Chinnery, P. F. (2015) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2015.05.022 · Cited by 335 · see citing works

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Bykhovskaya, Y., Casas, K. A., Mengesha, E., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421530 · Cited by 319 · see citing works

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Götz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyötyläinen, T., Ojala, T. H., Hämäläinen, R. H., Tommiska, J., Raivio, T., Orešič, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.006 · Cited by 257 · 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

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

Nesbitt, V., Pitceathly, R. D. S., Turnbull, D. M., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-303528 · Cited by 234 · see citing works

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2501 · Cited by 232 · 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

Making Proteins in the Powerhouse

Hällberg, B. M., & Larsson, N. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.07.001 · Cited by 212 · see citing works

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

Yu‐Wai‐Man, P., Griffiths, P. G., Burke, A., et al. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.12.038 · Cited by 205 · see citing works

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

Leonard, J. V., & Schapira, A. H. V. (2000) · The Lancet · doi:10.1016/s0140-6736(99)05226-5 · Cited by 195 · see citing works

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

Carelli, V., Musumeci, O., Caporali, L., Zanna, C., Morgia, C. L., Dotto, V. D., Porcelli, A. M., Rugolo, M., Valentino, M. L., Iommarini, L., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24410 · Cited by 191 · see citing works

Human Coenzyme Q10 Deficiency

Quinzii, C. M., DiMauro, S., & Hirano, M. (2006) · Neurochemical Research · doi:10.1007/s11064-006-9190-z · Cited by 188 · see citing works

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Foley, A. R., Menezes, M. P., Pandraud, A., et al. (2013) · Brain · doi:10.1093/brain/awt315 · Cited by 187 · 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

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Pfeffer, G., Gorman, G. S., Griffin, H. R., Kurzawa‐Akanbi, M., Blakely, E. L., Wilson, I., Sitarz, K. S., Moore, D. G., Murphy, J. L., Alston, C. L., et al. (2014) · Brain · doi:10.1093/brain/awu060 · Cited by 176 · 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

Mitochondrial DNA depletion

Mancuso, M., Salviati, L., Sacconi, S., Otaegui, D., Camaño, P., Marina, A., Bacman, S. R., Moraes, C. T., Carlo, J., García, M. J., et al. (2002) · Neurology · doi:10.1212/01.wnl.0000028689.93049.9a · Cited by 167 · 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

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology

Ghezzi, D., & Zeviani, M. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-3573-0_4 · Cited by 145 · see citing works

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Halter, J. P., Schüpbach, M. W. M., Schüpbach, M. W. M., Mandel, H., Casali, C., Orchard, K. H., Collin, M. P., Valcárcel, D., Rovelli, A., Filosto, M., et al. (2015) · Brain · doi:10.1093/brain/awv226 · Cited by 143 · see citing works

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Fernández‐Vizarra, E., & Zeviani, M. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00134 · Cited by 140 · 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

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Hakonen, A. H., Goffart, S., Marjavaara, S. K., Paetau, A. E., Cooper, H., Mattila, K., Lampinen, M., Sajantila, A., Lönnqvist, T. R. I., Spelbrink, J. N., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn280 · Cited by 135 · see citing works

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

Tiranti, V. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2733 · Cited by 123 · see citing works

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Grady, J. P., Campbell, G. R., Ratnaike, T. E., Blakely, E. L., Falkous, G., Nesbitt, V., Schaefer, A. M., McNally, R., Gorman, G. S., Taylor, R. W., et al. (2013) · Brain · doi:10.1093/brain/awt321 · Cited by 118 · see citing works

SPG7 mutations are a common cause of undiagnosed ataxia

Pfeffer, G., Pyle, A., Griffin, H. R., Miller, J. W., Wilson, V., Turnbull, L., Fawcett, K. A., Sims, D., Eglon, G., Hadjivassiliou, M., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001369 · Cited by 117 · see citing works

Apoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2)

Elguindy, M. M., & Nakamaru‐Ogiso, E. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.641498 · Cited by 115 · see citing works

Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy

Kabunga, P., Lau, A. K., Phan, K. H., et al. (2014) · International Journal of Cardiology · doi:10.1016/j.ijcard.2014.12.038 · Cited by 108 · see citing works

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

Gorman, G. S., Elson, J. L., Newman, J. H., Payne, B. A. I., McFarland, R., Newton, J. L., & Turnbull, D. M. (2015) · Neuromuscular Disorders · doi:10.1016/j.nmd.2015.03.001 · Cited by 103 · see citing works

Molecular pathogenesis of polymerase gamma–related neurodegeneration

Tzoulis, C., Tran, G. T., Coxhead, J. M., Bertelsen, B. I., Lilleng, P. K., Balafkan, N., Payne, B. A. I., Miletić, H., Chinnery, P. F., & Bindoff, L. A. (2014) · Annals of Neurology · doi:10.1002/ana.24185 · Cited by 93 · see citing works

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

Yu‐Wai‐Man, P., Sitarz, K. S., Samuels, D. C., Griffiths, P. G., Reeve, A. K., Bindoff, L. A., Horváth, R., & Chinnery, P. F. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq209 · Cited by 93 · see citing works

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 · see citing works

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., et al. (2013) · Human Mutation · doi:10.1002/humu.22393 · Cited by 86 · 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

Pre-excitation syndrome in Leber's hereditary optic neuropathy

Nikoskelainen, E. K. (1994) · The Lancet · doi:10.1016/s0140-6736(94)92830-4 · Cited by 80 · see citing works

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Kemp, J. P., Smith, P., Pyle, A., Neeve, V. C. M., Tuppen, H. A. L., Schara, U., Talim, B., Topaloğlu, H., Holinski‐Feder, E., Abicht, A., et al. (2010) · Brain · doi:10.1093/brain/awq320 · Cited by 74 · see citing works

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Janer, A., Antonická, H., Lalonde, E., Nishimura, T., Sasarman, F., Brown, G. K., Brown, R. M., Majewski, J., & Shoubridge, E. A. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.020 · Cited by 73 · see citing works

Protean Phenotypic Features of the A3243G Mitochondrial DNA Mutation

Kaufmann, P., Engelstad, K., Wei, Y., Kulikova, R., Oskoui, M., Battista, V., Koenigsberger, D. Y., Pascual, J. M., Sano, M. C., Hirano, M., et al. (2009) · Archives of Neurology · doi:10.1001/archneurol.2008.526 · Cited by 72 · see citing works

Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation

Vydt, T., de Coo, I. F. M., Soliman, O. I. I., ten Cate, F. J., van Geuns, R., Vletter, W. B., Schoonderwoerd, K. C., van den Bosch, B. J. C., Smeets, H. J. M., & Geleijnse, M. L. (2006) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2006.07.089 · Cited by 72 · see citing works

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Ng, Y. S., Grady, J. P., Lax, N. Z., Bourke, J. P., Alston, C. L., Hardy, S. A., Falkous, G., Schaefer, A. M., Radunović, A., MOHIDDIN, S. A., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv306 · Cited by 64 · see citing works

Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy

Howell, N., & Mackey, D. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302049 · Cited by 62 · see citing works

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

Alavi, M. V., Fuhrmann, N., Nguyen, H. P., Yu‐Wai‐Man, P., Heiduschka, P., Chinnery, P. F., & Wissinger, B. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.09.026 · Cited by 52 · see citing works

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome

Limongelli, A., Schaefer, J., Jackson, S., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016048 · Cited by 50 · see citing works

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28

Gorman, G. S., Pfeffer, G., Griffin, H. R., Blakely, E. L., Kurzawa‐Akanbi, M., Gabriel, J., Sitarz, K. S., Roberts, M., Schoser, B. G. H., Pyle, A., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.1753 · Cited by 47 · see citing works

Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions

Kornblum, C., Broicher, R., Walther, E. K., et al. (2001) · Neurology · doi:10.1212/wnl.56.10.1409 · Cited by 45 · see citing works

Subunit-specific Incorporation Efficiency and Kinetics in Mitochondrial Complex I Homeostasis

Dieteren, C. E. J., Koopman, W. J. H., Swarts, H. G. P., Peters, J. G. P., Maczuga, P., van Gemst, J. J., Masereeuw, R., Smeitink, J. A. M., Nijtmans, L. G. J., & Willems, P. H. G. M. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.391151 · Cited by 45 · see citing works

Assembly of human mitochondrial ATP synthase through two separate intermediates, F1‐c‐ring andb–e–g complex

Fujikawa, M., Sugawara, K., Tanabe, T., et al. (2015) · FEBS Letters · doi:10.1016/j.febslet.2015.08.006 · Cited by 42 · see citing works

Genetic bases of mitochondrial respiratory chain disorders

Rötig, A. (2010) · Diabetes & Metabolism · doi:10.1016/j.diabet.2009.11.002 · Cited by 42 · see citing works

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Hollingsworth, K. G., Gorman, G. S., Trenell, M. I., et al. (2012) · Neuromuscular Disorders · doi:10.1016/j.nmd.2012.03.001 · Cited by 42 · see citing works

Serum FGF21 levels in adult m.3243A>G carriers

Koene, S., de Laat, P., van Tienoven, D. H., Vriens, D., Brandt, A. M., Sweep, F. C. G. J., Rodenburg, R. J., Donders, A. R. T., Janssen, M. C. H., & Smeitink, J. A. M. (2014) · Neurology · doi:10.1212/wnl.0000000000000578 · Cited by 39 · see citing works

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†

Bates, M. G. D., Hollingsworth, K. G., Newman, J. H., et al. (2012) · European Heart Journal - Cardiovascular Imaging · doi:10.1093/ehjci/jes226 · Cited by 35 · see citing works

Intestinal pseudo‐obstruction and urinary retention: cardinal features of a mitochondrial DNA‐related disease

Garcia-Velasco, A., Gómez-Escalonilla, C., Guerra-Vales, J. M., et al. (2003) · Journal of Internal Medicine · doi:10.1046/j.1365-2796.2003.01095.x · Cited by 31 · see citing works

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

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MELAS syndrome presenting as an acute surgical abdomen

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Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA

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Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation

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Is There Alteration in Aortic Stiffness in Leber Hereditary Optic Neuropathy?

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Untitled work

Khan (2000) · doi:10.1002/1531-8249(200008)48:2

Mitochondrial and metabolic dysfunction in ageing and age-related diseases

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Oxidative Stress in Human Pathology and Aging: Molecular Mechanisms and Perspectives

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Mammalian Mitochondria and Aging: An Update

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ATP Synthase Diseases of Mitochondrial Genetic Origin

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A Glossary of Words used in the County of Northumberland and on the Tyne side, Glossary of Words used in the County of Willshire and A Glossary of Surrey Words

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Something from Nothing

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Nothings in particular

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Tom Jones: Fielding’s Novel on Nothing for Everyone

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Problem of Why there is Something Instead of Nothing © Copyright 2018 by Colin James III All Rights Reserved.Preprint

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