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For: Skladal D. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126:1905-12. [DOI: 10.1093/brain/awg170] [Cited by in Crossref: 307] [Cited by in F6Publishing: 272] [Article Influence: 16.2] [Reference Citation Analysis]
Number Citing Articles
1 Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O. C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet 2008;82:32-8. [PMID: 18179882 DOI: 10.1016/j.ajhg.2007.08.003] [Cited by in Crossref: 123] [Cited by in F6Publishing: 117] [Article Influence: 8.8] [Reference Citation Analysis]
2 Tucker EJ, Mimaki M, Compton AG, Mckenzie M, Ryan MT, Thorburn DR. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 2012;33:411-8. [DOI: 10.1002/humu.21654] [Cited by in Crossref: 44] [Cited by in F6Publishing: 42] [Article Influence: 4.0] [Reference Citation Analysis]
3 Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I. A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. Clinical Genetics 2012;82:264-70. [DOI: 10.1111/j.1399-0004.2011.01743.x] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 1.2] [Reference Citation Analysis]
4 Bird MJ, Wijeyeratne XW, Komen JC, Laskowski A, Ryan MT, Thorburn DR, Frazier AE. Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse. Biosci Rep 2014;34:e00151. [PMID: 25312000 DOI: 10.1042/BSR20140151] [Cited by in Crossref: 14] [Cited by in F6Publishing: 5] [Article Influence: 1.8] [Reference Citation Analysis]
5 Tucker EJ, Compton AG, Calvo SE, Thorburn DR. The molecular basis of human complex I deficiency. IUBMB Life 2011;63:669-77. [PMID: 21766414 DOI: 10.1002/iub.495] [Cited by in Crossref: 8] [Cited by in F6Publishing: 16] [Article Influence: 0.7] [Reference Citation Analysis]
6 Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy. Cell Death Differ 2014;21:1209-17. [PMID: 24658400 DOI: 10.1038/cdd.2014.36] [Cited by in Crossref: 101] [Cited by in F6Publishing: 88] [Article Influence: 12.6] [Reference Citation Analysis]
7 Doyle SR, Chan CK. Mitochondrial gene therapy: an evaluation of strategies for the treatment of mitochondrial DNA disorders. Hum Gene Ther 2008;19:1335-48. [PMID: 18764763 DOI: 10.1089/hum.2008.090] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 0.8] [Reference Citation Analysis]
8 Lunsing RJ, Strating K, de Koning TJ, Sijens PE. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. Eur Radiol 2017;27:976-84. [PMID: 27271921 DOI: 10.1007/s00330-016-4454-8] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
9 Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y. New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders. Ann Clin Transl Neurol 2014;1:361-9. [PMID: 25356405 DOI: 10.1002/acn3.59] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.9] [Reference Citation Analysis]
10 Morovat A, Weerasinghe G, Nesbitt V, Hofer M, Agnew T, Quaghebeur G, Sergeant K, Fratter C, Guha N, Mirzazadeh M, Poulton J. Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice. J Clin Med 2017;6:E80. [PMID: 28825656 DOI: 10.3390/jcm6080080] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 5.4] [Reference Citation Analysis]
11 Nouws J, Wibrand F, van den Brand M, Venselaar H, Duno M, Lund AM, Trautner S, Nijtmans L, Ostergard E. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. JIMD Rep 2014;12:37-45. [PMID: 23996478 DOI: 10.1007/8904_2013_242] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 2.9] [Reference Citation Analysis]
12 Lehtonen JM, Auranen M, Darin N, Sofou K, Bindoff L, Hikmat O, Uusimaa J, Vieira P, Tulinius M, Lönnqvist T, de Coo IF, Suomalainen A, Isohanni P. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. J Inherit Metab Dis 2021;44:469-80. [PMID: 32857451 DOI: 10.1002/jimd.12307] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
13 Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, Jalas C, Elpeleg O. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. J Inherit Metab Dis 2012;35:125-31. [DOI: 10.1007/s10545-011-9348-y] [Cited by in Crossref: 43] [Cited by in F6Publishing: 38] [Article Influence: 3.9] [Reference Citation Analysis]
14 Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol 2007;62:278-87. [PMID: 17823937 DOI: 10.1002/ana.21196] [Cited by in Crossref: 64] [Cited by in F6Publishing: 55] [Article Influence: 4.3] [Reference Citation Analysis]
15 Hämäläinen RH. Induced pluripotent stem cell-derived models for mtDNA diseases. Methods Enzymol 2014;547:399-415. [PMID: 25416367 DOI: 10.1016/B978-0-12-801415-8.00019-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.6] [Reference Citation Analysis]
16 Montoya J, López-Gallardo E, Herrero-Martín MD, Martínez-Romero I, Gómez-Durán A, Pacheu D, Carreras M, Díez-Sánchez C, López-Pérez MJ, Ruiz-Pesini E. Diseases of the human mitochondrial oxidative phosphorylation system. Adv Exp Med Biol 2009;652:47-67. [PMID: 20225019 DOI: 10.1007/978-90-481-2813-6_5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
17 Caietta E, Cano A, Halbert C, Hugonenq C, Mancini J, Milh M, Lépine A, Villeneuve N, Chaussenot A, Paquis-Flucklinger V, Chabrol B. [Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children]. Arch Pediatr 2012;19:794-802. [PMID: 22789745 DOI: 10.1016/j.arcped.2012.05.004] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
18 Ylikallio E, Tyynismaa H. Generating Mouse Models of Mitochondrial Disease. Movement Disorders. Elsevier; 2015. pp. 689-701. [DOI: 10.1016/b978-0-12-405195-9.00043-3] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
19 Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, Mcfarland R, Taylor RW. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome: Review. Developmental Medicine & Child Neurology 2012;54:500-6. [DOI: 10.1111/j.1469-8749.2012.04224.x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 2.6] [Reference Citation Analysis]
20 Brunel-guitton C, Levtova A, Sasarman F. Mitochondrial Diseases and Cardiomyopathies. Canadian Journal of Cardiology 2015;31:1360-76. [DOI: 10.1016/j.cjca.2015.08.017] [Cited by in Crossref: 40] [Cited by in F6Publishing: 28] [Article Influence: 5.7] [Reference Citation Analysis]
21 Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 2015;52:532-40. [PMID: 25787132 DOI: 10.1136/jmedgenet-2015-103049] [Cited by in Crossref: 44] [Cited by in F6Publishing: 42] [Article Influence: 6.3] [Reference Citation Analysis]
22 Bellinge J, Herath S, Sonigra D. Sodium Valproate Exacerbating an Underlying Disorder of Fatty Acid Metabolism. Case Rep Neurol 2016;8:185-92. [PMID: 27790123 DOI: 10.1159/000447087] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
23 Frye RE, Rossignol DA. Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr Res 2011;69:41R-7R. [PMID: 21289536 DOI: 10.1203/PDR.0b013e318212f16b] [Cited by in Crossref: 117] [Cited by in F6Publishing: 81] [Article Influence: 10.6] [Reference Citation Analysis]
24 Nishioka M, Inaba Y, Motobayashi M, Hara Y, Numata R, Amano Y, Shingu K, Yamamoto Y, Murayama K, Ohtake A, Nakazawa Y. An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation. Brain Dev 2018;40:484-8. [PMID: 29501406 DOI: 10.1016/j.braindev.2018.02.004] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
25 Shingu K, Murase T, Yamamoto T, Abe Y, Shinba Y, Mitsuma M, Umehara T, Yamashita H, Ikematsu K. Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis. Sci Rep 2021;11:21532. [PMID: 34728707 DOI: 10.1038/s41598-021-00962-8] [Reference Citation Analysis]
26 Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O. The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Molecular Genetics and Metabolism 2008;94:78-82. [DOI: 10.1016/j.ymgme.2007.11.013] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 2.5] [Reference Citation Analysis]
27 Spinazzola A. Mitochondrial DNA mutations and depletion in pediatric medicine. Seminars in Fetal and Neonatal Medicine 2011;16:190-6. [DOI: 10.1016/j.siny.2011.04.011] [Cited by in Crossref: 28] [Cited by in F6Publishing: 26] [Article Influence: 2.5] [Reference Citation Analysis]
28 Adeva M, González-lucán M, Seco M, Donapetry C. Enzymes involved in l-lactate metabolism in humans. Mitochondrion 2013;13:615-29. [DOI: 10.1016/j.mito.2013.08.011] [Cited by in Crossref: 51] [Cited by in F6Publishing: 48] [Article Influence: 5.7] [Reference Citation Analysis]
29 van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. Eur J Hum Genet 2012;20:650-6. [PMID: 22258525 DOI: 10.1038/ejhg.2011.262] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 2.0] [Reference Citation Analysis]
30 Khan N. Recent advancements in diagnostic tools in mitochondrial energy metabolism diseases. Adv Med Sci 2016;61:244-8. [PMID: 26998934 DOI: 10.1016/j.advms.2016.02.002] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
31 Yamamoto T, Emoto Y, Murayama K, Tanaka H, Kuriu Y, Ohtake A, Matoba R. Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: Diagnosis of mitochondrial respiratory chain disorders. Molecular Genetics and Metabolism 2012;106:474-7. [DOI: 10.1016/j.ymgme.2012.05.002] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
32 Davis RL, Liang C, Sue CM. Mitochondrial diseases. Neurogenetics, Part I. Elsevier; 2018. pp. 125-41. [DOI: 10.1016/b978-0-444-63233-3.00010-5] [Cited by in Crossref: 14] [Cited by in F6Publishing: 2] [Article Influence: 3.5] [Reference Citation Analysis]
33 Rossignol DA, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry. 2012;17:290-314. [PMID: 21263444 DOI: 10.1038/mp.2010.136] [Cited by in Crossref: 413] [Cited by in F6Publishing: 392] [Article Influence: 37.5] [Reference Citation Analysis]
34 Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K. Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia. Mol Genet Metab Rep 2018;15:80-9. [PMID: 30009132 DOI: 10.1016/j.ymgmr.2018.03.004] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
35 Raman S, Chentouf L, DeVile C, Peters MJ, Rahman S. Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders. PLoS One 2018;13:e0199756. [PMID: 29969469 DOI: 10.1371/journal.pone.0199756] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
36 Johnson J, Lee W, Frazier AE, Vaghjiani V, Laskowski A, Rodriguez AL, Cagnone GL, Mckenzie M, White SJ, Nisbet DR, Thorburn DR, St. John JC. Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation. Stem Cells and Development 2016;25:239-50. [DOI: 10.1089/scd.2015.0211] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
37 Thorburn DR. Mitochondrial disorders: Prevalence, myths and advances. J Inherit Metab Dis 2004;27:349-62. [DOI: 10.1023/b:boli.0000031098.41409.55] [Cited by in Crossref: 157] [Cited by in F6Publishing: 65] [Article Influence: 8.7] [Reference Citation Analysis]
38 Ma Y, Zhang X, Wu T, Liu Y, Wang Q, Zhang Y, Song J, Wang Y, Yang Y. Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders. J Child Neurol 2011;26:974-9. [DOI: 10.1177/0883073811399905] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 1.5] [Reference Citation Analysis]
39 Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr. 2007;150:407-411. [PMID: 17382120 DOI: 10.1016/j.jpeds.2006.12.047] [Cited by in Crossref: 54] [Cited by in F6Publishing: 42] [Article Influence: 3.6] [Reference Citation Analysis]
40 Erdol S, Saglam H. Outcomes of mitochondrial derived diseases: a single-center experience. J Pediatr Endocrinol Metab 2018;31:399-405. [PMID: 29614848 DOI: 10.1515/jpem-2017-0405] [Reference Citation Analysis]
41 Felici R, Lapucci A, Cavone L, Pratesi S, Berlinguer-Palmini R, Chiarugi A. Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts. Mol Pharmacol 2015;87:965-71. [PMID: 25788480 DOI: 10.1124/mol.114.097204] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 3.3] [Reference Citation Analysis]
42 Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Clinical and laboratory interpretation of mitochondrial mRNA variants. Hum Mutat 2020;41:1783-96. [PMID: 32652755 DOI: 10.1002/humu.24082] [Cited by in Crossref: 3] [Article Influence: 1.5] [Reference Citation Analysis]
43 Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science 2015;349:1494-9. [PMID: 26404827 DOI: 10.1126/science.aac7516] [Cited by in Crossref: 186] [Cited by in F6Publishing: 162] [Article Influence: 26.6] [Reference Citation Analysis]
44 Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta. 2012;1820:619-624. [PMID: 21443929 DOI: 10.1016/j.bbagen.2011.03.015] [Cited by in Crossref: 127] [Cited by in F6Publishing: 105] [Article Influence: 11.5] [Reference Citation Analysis]
45 Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. J Neuropathol Exp Neurol 2015;74:688-703. [PMID: 26083569 DOI: 10.1097/NEN.0000000000000209] [Cited by in Crossref: 23] [Cited by in F6Publishing: 14] [Article Influence: 3.3] [Reference Citation Analysis]
46 Stranneheim H, Wedell A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. J Intern Med 2016;279:3-15. [DOI: 10.1111/joim.12399] [Cited by in Crossref: 53] [Cited by in F6Publishing: 43] [Article Influence: 7.6] [Reference Citation Analysis]
47 Zhang VW. Massively parallel sequencing for diagnosing clinically and genetically heterogeneous disorders. Per Med 2013;10:613-9. [PMID: 29776194 DOI: 10.2217/pme.13.40] [Reference Citation Analysis]
48 Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis 2013;36:55-62. [PMID: 22562699 DOI: 10.1007/s10545-012-9489-7] [Cited by in Crossref: 70] [Cited by in F6Publishing: 62] [Article Influence: 7.0] [Reference Citation Analysis]
49 Hughes BG, Harrison PM, Hekimi S. Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. Sci Rep 2017;7:17744. [PMID: 29255295 DOI: 10.1038/s41598-017-17564-y] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 3.8] [Reference Citation Analysis]
50 Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130:853-61. [DOI: 10.1093/brain/awl383] [Cited by in Crossref: 129] [Cited by in F6Publishing: 114] [Article Influence: 8.6] [Reference Citation Analysis]
51 McGarrah RW, Ahmad T, Koeberl DD, Patel CB. The heart is just a muscle. Circulation 2015;131:914-22. [PMID: 25753344 DOI: 10.1161/CIRCULATIONAHA.114.011647] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
52 Saneto RP, Sedensky MM. Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics 2013;10:199-211. [PMID: 23224691 DOI: 10.1007/s13311-012-0167-0] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
53 Rodenburg RJ, Schoonderwoerd GC, Tiranti V, Taylor RW, Rötig A, Valente L, Invernizzi F, Chretien D, He L, Backx GP, Janssen KJ, Chinnery PF, Smeets HJ, de Coo IF, van den Heuvel LP. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion 2013;13:36-43. [PMID: 23164799 DOI: 10.1016/j.mito.2012.11.004] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 1.5] [Reference Citation Analysis]
54 Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet 2010;87:52-9. [PMID: 20598274 DOI: 10.1016/j.ajhg.2010.06.001] [Cited by in Crossref: 169] [Cited by in F6Publishing: 160] [Article Influence: 14.1] [Reference Citation Analysis]
55 Castro-gago M, Blanco-barca MO, Campos-gonzález Y, Arenas-barbero J, Pintos-martínez E, Eirís-puñal J. Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain. Pediatric Neurology 2006;34:204-11. [DOI: 10.1016/j.pediatrneurol.2005.07.011] [Cited by in Crossref: 30] [Cited by in F6Publishing: 25] [Article Influence: 1.9] [Reference Citation Analysis]
56 Hao X, Liu S, Wu X, Hao Y, Chen Y. Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation: a case report. NeuroReport 2015;26:588-92. [DOI: 10.1097/wnr.0000000000000392] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
57 McAfee JL, Warren CB, Prayson RA. Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results. Ann Diagn Pathol 2017;29:41-5. [PMID: 28807341 DOI: 10.1016/j.anndiagpath.2017.02.010] [Cited by in Crossref: 2] [Article Influence: 0.4] [Reference Citation Analysis]
58 Lythgow KT, Hudson G, Andras P, Chinnery PF. A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization. Mitochondrion 2011;11:444-9. [PMID: 21195798 DOI: 10.1016/j.mito.2010.12.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
59 Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P, Mallya S, Deepha S, Ponmalar JNJ, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K. Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. J Neurol 2021;268:2192-207. [PMID: 33484326 DOI: 10.1007/s00415-020-10390-9] [Reference Citation Analysis]
60 Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J, Artuch R; MITOSPAIN Working Group. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes (Basel) 2021;12:1590. [PMID: 34680984 DOI: 10.3390/genes12101590] [Reference Citation Analysis]
61 Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis 2020;43:36-50. [PMID: 31021000 DOI: 10.1002/jimd.12104] [Cited by in Crossref: 53] [Cited by in F6Publishing: 49] [Article Influence: 17.7] [Reference Citation Analysis]
62 Ni Y, Hagras MA, Konstantopoulou V, Mayr JA, Stuchebrukhov AA, Meierhofer D. Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer. Cells 2019;8:E1149. [PMID: 31557978 DOI: 10.3390/cells8101149] [Cited by in Crossref: 10] [Cited by in F6Publishing: 4] [Article Influence: 3.3] [Reference Citation Analysis]
63 Bargiela D, Yu-Wai-Man P, Keogh M, Horvath R, Chinnery PF. Prevalence of neurogenetic disorders in the North of England. Neurology 2015;85:1195-201. [PMID: 26341866 DOI: 10.1212/WNL.0000000000001995] [Cited by in Crossref: 17] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
64 Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007;80:478-484. [PMID: 17273968 DOI: 10.1086/511788] [Cited by in Crossref: 99] [Cited by in F6Publishing: 79] [Article Influence: 6.6] [Reference Citation Analysis]
65 Vater Y, Dembo G, Martay K, Klein Y, Vitin A, Weinbroum AA. Drug management in emergent liver transplantation of mitochondrial disorder carriers: review of the literature. Clin Transplant 2010;24:E43-53. [PMID: 20141521 DOI: 10.1111/j.1399-0012.2009.01203.x] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
66 Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R. Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. Blood Cells Mol Dis 2007;39:96-101. [PMID: 17376717 DOI: 10.1016/j.bcmd.2007.02.002] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 0.6] [Reference Citation Analysis]
67 Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 2011;10:806-18. [PMID: 21820356 DOI: 10.1016/S1474-4422(11)70155-7] [Cited by in Crossref: 239] [Cited by in F6Publishing: 132] [Article Influence: 21.7] [Reference Citation Analysis]
68 Vartak RS, Semwal MK, Bai Y. An update on complex I assembly: the assembly of players. J Bioenerg Biomembr 2014;46:323-8. [PMID: 25030182 DOI: 10.1007/s10863-014-9564-x] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
69 Foriel S, Renkema GH, Lasarzewski Y, Berkhout J, Rodenburg RJ, Smeitink JAM, Beyrath J, Schenck A. A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. Front Genet 2019;10:245. [PMID: 30972103 DOI: 10.3389/fgene.2019.00245] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
70 Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers 2016;2:16080. [PMID: 27775730 DOI: 10.1038/nrdp.2016.80] [Cited by in Crossref: 475] [Cited by in F6Publishing: 411] [Article Influence: 79.2] [Reference Citation Analysis]
71 Chi C, Lee H, Tsai C, Lee H, Chen L. Clinical Manifestations in Children With Mitochondrial Diseases. Pediatric Neurology 2010;43:183-9. [DOI: 10.1016/j.pediatrneurol.2010.04.015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 0.9] [Reference Citation Analysis]
72 Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol 2017;241:236-50. [PMID: 27659608 DOI: 10.1002/path.4809] [Cited by in Crossref: 194] [Cited by in F6Publishing: 159] [Article Influence: 32.3] [Reference Citation Analysis]
73 Ramezani RJ, Stacpoole PW. Sleep disorders associated with primary mitochondrial diseases. J Clin Sleep Med 2014;10:1233-9. [PMID: 25325607 DOI: 10.5664/jcsm.4212] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 1.9] [Reference Citation Analysis]
74 Zhu JY, Vereshchagina N, Sreekumar V, Burbulla LF, Costa AC, Daub KJ, Woitalla D, Martins LM, Krüger R, Rasse TM. Knockdown of Hsc70-5/mortalin induces loss of synaptic mitochondria in a Drosophila Parkinson's disease model. PLoS One 2013;8:e83714. [PMID: 24386261 DOI: 10.1371/journal.pone.0083714] [Cited by in Crossref: 30] [Cited by in F6Publishing: 31] [Article Influence: 3.3] [Reference Citation Analysis]
75 Menezes MP, Ouvrier RA. Peripheral neuropathy associated with mitochondrial disease in children. Dev Med Child Neurol 2012;54:407-14. [PMID: 22435634 DOI: 10.1111/j.1469-8749.2012.04271.x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 2.6] [Reference Citation Analysis]
76 Bakare AB, Dean J, Chen Q, Thorat V, Huang Y, LaFramboise T, Lesnefsky EJ, Iyer S. Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity. Int J Mol Sci 2021;22:10344. [PMID: 34638685 DOI: 10.3390/ijms221910344] [Reference Citation Analysis]
77 DiMauro S, Garone C. Historical perspective on mitochondrial medicine. Dev Disabil Res Rev 2010;16:106-13. [PMID: 20818724 DOI: 10.1002/ddrr.102] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
78 Bulduk BK, Kiliç HB, Bekircan-Kurt CE, Haliloğlu G, Erdem Özdamar S, Topaloğlu H, Kocaefe YÇ. A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories. Genet Test Mol Biomarkers 2020;24:165-70. [PMID: 32167396 DOI: 10.1089/gtmb.2019.0079] [Reference Citation Analysis]
79 Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Hum Genet 2015;134:869-79. [PMID: 26008905 DOI: 10.1007/s00439-015-1568-z] [Cited by in Crossref: 34] [Cited by in F6Publishing: 29] [Article Influence: 4.9] [Reference Citation Analysis]
80 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
81 Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome. Pediatr Int 2014;56:180-7. [PMID: 24266892 DOI: 10.1111/ped.12249] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.5] [Reference Citation Analysis]
82 Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res 2016;44:D1251-7. [PMID: 26450961 DOI: 10.1093/nar/gkv1003] [Cited by in Crossref: 845] [Cited by in F6Publishing: 742] [Article Influence: 120.7] [Reference Citation Analysis]
83 Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLoS Genet 2013;9:e1004034. [PMID: 24385928 DOI: 10.1371/journal.pgen.1004034] [Cited by in Crossref: 74] [Cited by in F6Publishing: 63] [Article Influence: 8.2] [Reference Citation Analysis]
84 Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report. European Journal of Paediatric Neurology 2007;11:115-8. [DOI: 10.1016/j.ejpn.2006.11.015] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 1.3] [Reference Citation Analysis]
85 Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 2015;138:3503-19. [PMID: 26510951 DOI: 10.1093/brain/awv291] [Cited by in Crossref: 57] [Cited by in F6Publishing: 45] [Article Influence: 8.1] [Reference Citation Analysis]
86 Fato R, Bergamini C, Leoni S, Strocchi P, Lenaz G. Generation of Reactive Oxygen Species by Mitochondrial Complex I: Implications in Neurodegeneration. Neurochem Res 2008;33:2487-501. [DOI: 10.1007/s11064-008-9747-0] [Cited by in Crossref: 61] [Cited by in F6Publishing: 57] [Article Influence: 4.4] [Reference Citation Analysis]
87 Shin J, Lee SH, Kwon MC, Yang DK, Seo HR, Kim J, Kim YY, Im SK, Abel ED, Kim KT, Park WJ, Kong YY. Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice. PLoS One 2013;8:e53577. [PMID: 23308255 DOI: 10.1371/journal.pone.0053577] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 0.9] [Reference Citation Analysis]
88 Gerards M, van den Bosch BJC, Danhauser K, Serre V, van Weeghel M, Wanders RJA, Nicolaes GAF, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IFM, Smeets HJM. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 2011;134:210-9. [DOI: 10.1093/brain/awq273] [Cited by in Crossref: 94] [Cited by in F6Publishing: 72] [Article Influence: 7.8] [Reference Citation Analysis]
89 Saada A. The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases. Mol Genet Metab 2011;104:39-47. [PMID: 21835663 DOI: 10.1016/j.ymgme.2011.07.016] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 1.8] [Reference Citation Analysis]
90 Wang Y, Picard M, Gu Z. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder. PLoS Genet 2016;12:e1006391. [PMID: 27792786 DOI: 10.1371/journal.pgen.1006391] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 5.2] [Reference Citation Analysis]
91 Lim A, Thomas RH. The mitochondrial epilepsies. European Journal of Paediatric Neurology 2020;24:47-52. [DOI: 10.1016/j.ejpn.2019.12.021] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
92 Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans. Genet Med 2011;13:794-9. [PMID: 21633293 DOI: 10.1097/GIM.0b013e31821afca5] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
93 Begliuomini C, Magli G, Di Rocco M, Santorelli FM, Cassandrini D, Nesti C, Deodato F, Diodato D, Casellato S, Simula DM, Dessì V, Eusebi A, Carta A, Sotgiu S. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. BMC Med Genet 2019;20:77. [PMID: 31064326 DOI: 10.1186/s12881-019-0798-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
94 Wirtz S, Schuelke M. Region-specific expression of mitochondrial complex I genes during murine brain development. PLoS One 2011;6:e18897. [PMID: 21556144 DOI: 10.1371/journal.pone.0018897] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
95 Sexton AC, Sahhar M, Thorburn DR, Metcalfe SA. Impact of a Genetic Diagnosis of a Mitochondrial Disorder 5–17 Years After the Death of an Affected Child. J Genet Counsel 2008;17:261-73. [DOI: 10.1007/s10897-007-9145-9] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 0.9] [Reference Citation Analysis]
96 Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine 2020;54:102730. [PMID: 32305867 DOI: 10.1016/j.ebiom.2020.102730] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
97 Chinnery PF, DiMauro S. Mitochondrial hepatopathies. J Hepatol 2005;43:207-9. [PMID: 15964657 DOI: 10.1016/j.jhep.2005.05.012] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 0.9] [Reference Citation Analysis]
98 Mercier S, Josselin de Wasch M, Labarthe F, Jardel C, Lombès A, Munnich A, Toutain A, Nivet H, Saliba E, Chantepie A, Castelnau P. [Clinical variability and diagnosis steps in childhood mitochondrial disease]. Arch Pediatr 2009;16:322-30. [PMID: 19233626 DOI: 10.1016/j.arcped.2008.12.024] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
99 Salvado R, Sousa F, Queiroz J, Costa D. Development of mitochondrial targeting plasmid DNA nanoparticles: Characterization and in vitro studies. Colloids and Surfaces A: Physicochemical and Engineering Aspects 2015;480:287-95. [DOI: 10.1016/j.colsurfa.2014.12.013] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.6] [Reference Citation Analysis]
100 Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-hertani W, Brunel-guitton C, Khan A, Penny B, Rockman-greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK; in collaboration with the Canadian Inherited Metabolic Diseases Research Network. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci 2019;46:717-26. [DOI: 10.1017/cjn.2019.240] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
101 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology. 2007;45:1555-1565. [PMID: 17538929 DOI: 10.1002/hep.21710] [Cited by in Crossref: 80] [Cited by in F6Publishing: 59] [Article Influence: 5.3] [Reference Citation Analysis]
102 Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. J Clin Invest 2021;131:136055. [PMID: 33463549 DOI: 10.1172/JCI136055] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 6.0] [Reference Citation Analysis]
103 Kisler JE, Whittaker RG, Mcfarland R. Mitochondrial diseases in childhood: a clinical approach to investigation and management: Review. Developmental Medicine & Child Neurology 2010;52:422-33. [DOI: 10.1111/j.1469-8749.2009.03605.x] [Cited by in Crossref: 39] [Cited by in F6Publishing: 35] [Article Influence: 3.3] [Reference Citation Analysis]
104 Ouyang X, Zhang Y, Zhang L, Luo J, Zhang T, Hu H, Liu L, Zhong L, Zeng S, Xu P, Bai Z, Wong LJ, Wang J, Wang C, Wang B, Zhang VW. Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders. Front Genet 2021;12:725259. [PMID: 34490048 DOI: 10.3389/fgene.2021.725259] [Reference Citation Analysis]
105 Frazier AE, Thorburn DR, Compton AG. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology. J Biol Chem 2019;294:5386-95. [PMID: 29233888 DOI: 10.1074/jbc.R117.809194] [Cited by in Crossref: 102] [Cited by in F6Publishing: 61] [Article Influence: 20.4] [Reference Citation Analysis]
106 Sabharwal A, Sharma D, Vellarikkal SK, Jayarajan R, Verma A, Senthivel V, Scaria V, Sivasubbu S. Organellar transcriptome sequencing reveals mitochondrial localization of nuclear encoded transcripts. Mitochondrion 2019;46:59-68. [PMID: 29486245 DOI: 10.1016/j.mito.2018.02.007] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
107 Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat 2021;42:1422-8. [PMID: 34405929 DOI: 10.1002/humu.24274] [Reference Citation Analysis]
108 Crain MJ, Chernoff MC, Oleske JM, Brogly SB, Malee KM, Borum PR, Meyer WA 3rd, Mitchell WG, Moye JH, Ford-Chatterton HM, Van Dyke RB, Seage Iii GR. Possible mitochondrial dysfunction and its association with antiretroviral therapy use in children perinatally infected with HIV. J Infect Dis 2010;202:291-301. [PMID: 20533872 DOI: 10.1086/653497] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
109 Tiosano D, Mears JA, Buchner DA. Mitochondrial Dysfunction in Primary Ovarian Insufficiency. Endocrinology 2019;160:2353-66. [PMID: 31393557 DOI: 10.1210/en.2019-00441] [Cited by in Crossref: 11] [Cited by in F6Publishing: 13] [Article Influence: 3.7] [Reference Citation Analysis]
110 Bakare AB, Lesnefsky EJ, Iyer S. Leigh Syndrome: A Tale of Two Genomes. Front Physiol 2021;12:693734. [PMID: 34456746 DOI: 10.3389/fphys.2021.693734] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
111 Dautant A, Meier T, Hahn A, Tribouillard-Tanvier D, di Rago JP, Kucharczyk R. ATP Synthase Diseases of Mitochondrial Genetic Origin. Front Physiol 2018;9:329. [PMID: 29670542 DOI: 10.3389/fphys.2018.00329] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 9.3] [Reference Citation Analysis]
112 Queen RA, Steyn JS, Lord P, Elson JL. Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications. PLoS One 2017;12:e0187862. [PMID: 29161289 DOI: 10.1371/journal.pone.0187862] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
113 Murayama K, Shimura M, Liu Z, Okazaki Y, Ohtake A. Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. J Hum Genet 2019;64:113-25. [PMID: 30459337 DOI: 10.1038/s10038-018-0528-6] [Cited by in Crossref: 19] [Cited by in F6Publishing: 21] [Article Influence: 4.8] [Reference Citation Analysis]
114 Chi CS. Diagnostic approach in infants and children with mitochondrial diseases. Pediatr Neonatol 2015;56:7-18. [PMID: 25151629 DOI: 10.1016/j.pedneo.2014.03.009] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
115 Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for mitochondrial disease. Eur J Hum Genet 2014;22:1255-9. [PMID: 24642831 DOI: 10.1038/ejhg.2014.35] [Cited by in Crossref: 38] [Cited by in F6Publishing: 27] [Article Influence: 4.8] [Reference Citation Analysis]
116 Tsang MHY, Kwong AKY, Chan KLS, Fung JLF, Yu MHC, Mak CCY, Yeung KS, Rodenburg RJT, Smeitink JAM, Chan R, Tsoi T, Hui J, Wong SSN, Tai SM, Chan VCM, Ma CK, Fung STH, Wu SP, Chak WK, Chung BHY, Fung CW. Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Hum Genomics 2020;14:28. [PMID: 32907636 DOI: 10.1186/s40246-020-00278-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
117 Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT. Understanding mitochondrial complex I assembly in health and disease. Biochim Biophys Acta 2012;1817:851-62. [PMID: 21924235 DOI: 10.1016/j.bbabio.2011.08.010] [Cited by in Crossref: 247] [Cited by in F6Publishing: 230] [Article Influence: 22.5] [Reference Citation Analysis]
118 Nishida M, Morimoto M, Ohno K, Hamaoka K. IgA nephropathy in a girl with mitochondrial disease. Pediatr Int 2015;57:e50-2. [PMID: 25661793 DOI: 10.1111/ped.12540] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
119 Hettiarachchi D, Lakmal K, Dissanayake VHW. Mitochondrial diseases in South Asia - A systematic review. Mitochondrion 2021;62:24-30. [PMID: 34740865 DOI: 10.1016/j.mito.2021.10.007] [Reference Citation Analysis]
120 Ji X, Zhao L, Ji K, Zhao Y, Li W, Zhang R, Hou Y, Lu J, Yan C. Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases. Mol Neurobiol 2017;54:8110-6. [DOI: 10.1007/s12035-016-0283-7] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 3.7] [Reference Citation Analysis]
121 Duff RM, Shearwood AM, Ermer J, Rossetti G, Gooding R, Richman TR, Balasubramaniam S, Thorburn DR, Rackham O, Lamont PJ, Filipovska A. A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome. Mitochondrion 2015;25:113-9. [PMID: 26524491 DOI: 10.1016/j.mito.2015.10.008] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
122 Zhu CC, Traboulsi EI, Parikh S. Ophthalmological findings in 74 patients with mitochondrial disease. Ophthalmic Genet 2017;38:67-9. [PMID: 27029465 DOI: 10.3109/13816810.2015.1130153] [Cited by in Crossref: 26] [Cited by in F6Publishing: 18] [Article Influence: 4.3] [Reference Citation Analysis]
123 Dimauro S. A history of mitochondrial diseases. J Inherit Metab Dis 2011;34:261-76. [PMID: 20490929 DOI: 10.1007/s10545-010-9082-x] [Cited by in Crossref: 59] [Cited by in F6Publishing: 43] [Article Influence: 4.9] [Reference Citation Analysis]
124 Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K. A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. Mol Syndromol 2012;3:113-9. [PMID: 23112753 DOI: 10.1159/000341375] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
125 Hikmat O, Vederhus BJ, Benestad MR, Engeset IME, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Elgen IB, Bindoff LA. Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion 2020;55:95-9. [PMID: 32976988 DOI: 10.1016/j.mito.2020.09.005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
126 Chinnery PF, Hudson G. Mitochondrial genetics. Br Med Bull 2013;106:135-59. [PMID: 23704099 DOI: 10.1093/bmb/ldt017] [Cited by in Crossref: 196] [Cited by in F6Publishing: 171] [Article Influence: 21.8] [Reference Citation Analysis]
127 Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006;:CD004426. [PMID: 16437486 DOI: 10.1002/14651858.CD004426.pub2] [Cited by in Crossref: 31] [Cited by in F6Publishing: 33] [Article Influence: 1.9] [Reference Citation Analysis]
128 Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y. Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification. Biochim Biophys Acta 2014;1840:1355-9. [PMID: 24462578 DOI: 10.1016/j.bbagen.2014.01.025] [Cited by in Crossref: 40] [Cited by in F6Publishing: 36] [Article Influence: 5.0] [Reference Citation Analysis]
129 Wydro MM, Balk J. Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. Dis Model Mech 2013;6:1279-84. [PMID: 23828044 DOI: 10.1242/dmm.012682] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
130 Carroll CJ, Brilhante V, Suomalainen A. Next-generation sequencing for mitochondrial disorders. Br J Pharmacol 2014;171:1837-53. [PMID: 24138576 DOI: 10.1111/bph.12469] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 4.3] [Reference Citation Analysis]
131 El-hattab AW, Li F, Schmitt E, Zhang S, Craigen WJ, Wong LC. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations. Molecular Genetics and Metabolism 2010;99:300-8. [DOI: 10.1016/j.ymgme.2009.10.003] [Cited by in Crossref: 61] [Cited by in F6Publishing: 56] [Article Influence: 5.1] [Reference Citation Analysis]
132 Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012;4:118ra10. [PMID: 22277967 DOI: 10.1126/scitranslmed.3003310] [Cited by in Crossref: 317] [Cited by in F6Publishing: 294] [Article Influence: 31.7] [Reference Citation Analysis]
133 Nouws J, Nijtmans LGJ, Smeitink JA, Vogel RO. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain 2012;135:12-22. [DOI: 10.1093/brain/awr261] [Cited by in Crossref: 61] [Cited by in F6Publishing: 59] [Article Influence: 5.5] [Reference Citation Analysis]
134 Bhandari R, Paliwal JK, Kuhad A. Dietary Phytochemicals as Neurotherapeutics for Autism Spectrum Disorder: Plausible Mechanism and Evidence. In: Essa MM, Qoronfleh MW, editors. Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management. Cham: Springer International Publishing; 2020. pp. 615-46. [DOI: 10.1007/978-3-030-30402-7_23] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
135 Schreiber H. Pilot Study on Executive Function and Adaptive Skills in Adolescents and Young Adults With Mitochondrial Disease. J Child Neurol 2012;27:1506-16. [DOI: 10.1177/0883073812442589] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
136 Hellebrekers D, Wolfe R, Hendrickx A, de Coo I, de Die C, Geraedts J, Chinnery P, Smeets H. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Human Reproduction Update 2012;18:341-9. [DOI: 10.1093/humupd/dms008] [Cited by in Crossref: 61] [Cited by in F6Publishing: 44] [Article Influence: 6.1] [Reference Citation Analysis]
137 Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat 2013;34:1623-7. [PMID: 24105702 DOI: 10.1002/humu.22445] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 2.3] [Reference Citation Analysis]
138 Delonlay P, Rötig A, Sarnat HB. Respiratory chain deficiencies. Pediatric Neurology Part III. Elsevier; 2013. pp. 1651-66. [DOI: 10.1016/b978-0-444-59565-2.00033-2] [Cited by in Crossref: 16] [Cited by in F6Publishing: 4] [Article Influence: 1.8] [Reference Citation Analysis]
139 Yan HM, Liu ZM, Cao B, Zhang VW, He YD, Jia ZJ, Xi H, Liu J, Fang F, Wang H. Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China. Front Genet 2021;12:611226. [PMID: 34276756 DOI: 10.3389/fgene.2021.611226] [Reference Citation Analysis]
140 El-Desouky S, Taalab YM, El-Gamal M, Mohamed W, Salama M. Animal Model for Leigh Syndrome. Methods Mol Biol 2019;2011:451-64. [PMID: 31273716 DOI: 10.1007/978-1-4939-9554-7_27] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
141 Diamond T, DiVito D, Savoca M, Mascarenhas M, Goldstein A. Nutrition rehabilitation-related complications in primary mitochondrial disorders. Nutr Clin Pract 2021. [PMID: 34270139 DOI: 10.1002/ncp.10739] [Reference Citation Analysis]
142 Argmann CA, Houten SM, Zhu J, Schadt EE. A Next Generation Multiscale View of Inborn Errors of Metabolism. Cell Metab 2016;23:13-26. [PMID: 26712461 DOI: 10.1016/j.cmet.2015.11.012] [Cited by in Crossref: 55] [Cited by in F6Publishing: 43] [Article Influence: 7.9] [Reference Citation Analysis]
143 Guevara-Campos J, González-Guevara L, Puig-Alcaraz C, Cauli O. Autism spectrum disorders associated to a deficiency of the enzymes of the mitochondrial respiratory chain. Metab Brain Dis 2013;28:605-12. [PMID: 23839164 DOI: 10.1007/s11011-013-9419-x] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 2.1] [Reference Citation Analysis]
144 Meldau S, Owen EP, Khan K, Riordan GT. Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. J Clin Pathol 2020:jclinpath-2020-207026. [PMID: 33115810 DOI: 10.1136/jclinpath-2020-207026] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
145 Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet 2016;12:e1005679. [PMID: 26741492 DOI: 10.1371/journal.pgen.1005679] [Cited by in Crossref: 152] [Cited by in F6Publishing: 135] [Article Influence: 25.3] [Reference Citation Analysis]
146 Mckenzie M, Lazarou M, Ryan MT. Chapter 18 Analysis of Respiratory Chain Complex Assembly with Radiolabeled Nuclear‐ and Mitochondrial‐Encoded Subunits. Mitochondrial Function, Part A: Mitochondrial Electron Transport Complexes and Reactive Oxygen Species. Elsevier; 2009. pp. 321-39. [DOI: 10.1016/s0076-6879(08)04418-2] [Cited by in Crossref: 33] [Cited by in F6Publishing: 17] [Article Influence: 2.5] [Reference Citation Analysis]
147 Hämäläinen RH, Manninen T, Koivumäki H, Kislin M, Otonkoski T, Suomalainen A. Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model. Proc Natl Acad Sci U S A 2013;110:E3622-30. [PMID: 24003133 DOI: 10.1073/pnas.1311660110] [Cited by in Crossref: 147] [Cited by in F6Publishing: 130] [Article Influence: 16.3] [Reference Citation Analysis]
148 DiMauro S. Mitochondrial DNA medicine. Biosci Rep 2007;27:5-9. [PMID: 17484047 DOI: 10.1007/s10540-007-9032-5] [Cited by in Crossref: 28] [Cited by in F6Publishing: 24] [Article Influence: 1.9] [Reference Citation Analysis]
149 Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell Biol. 2007;80:93-119. [PMID: 17445690 DOI: 10.1016/s0091-679x(06)80004-x] [Cited by in Crossref: 255] [Cited by in F6Publishing: 152] [Article Influence: 17.0] [Reference Citation Analysis]
150 Menezes MJ, Riley LG, Christodoulou J. Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine. Biochimica et Biophysica Acta (BBA) - General Subjects 2014;1840:1368-79. [DOI: 10.1016/j.bbagen.2013.12.025] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 3.3] [Reference Citation Analysis]
151 Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet 2020;6:e402. [PMID: 32337332 DOI: 10.1212/NXG.0000000000000402] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 7.0] [Reference Citation Analysis]
152 Thorburn DR. Mitochondrial diseases: not so rare after all. Intern Med J 2004;34:3-5. [PMID: 14748905 DOI: 10.1111/j.1444-0903.2004.00537.x] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 0.6] [Reference Citation Analysis]
153 Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Hum Mol Genet 2019;28:258-68. [PMID: 30285085 DOI: 10.1093/hmg/ddy294] [Cited by in Crossref: 6] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
154 Flemming NB, Gallo LA, Forbes JM. Mitochondrial Dysfunction and Signaling in Diabetic Kidney Disease: Oxidative Stress and Beyond. Seminars in Nephrology 2018;38:101-10. [DOI: 10.1016/j.semnephrol.2018.01.001] [Cited by in Crossref: 24] [Cited by in F6Publishing: 22] [Article Influence: 6.0] [Reference Citation Analysis]
155 Douiev L, Soiferman D, Alban C, Saada A. The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders. J Clin Med 2016;6:E1. [PMID: 28025489 DOI: 10.3390/jcm6010001] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 3.5] [Reference Citation Analysis]
156 Hu C, Xu Q, Shen J, Wang Y. Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature. Front Neurol 2021;12:633397. [PMID: 33613441 DOI: 10.3389/fneur.2021.633397] [Reference Citation Analysis]
157 Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol. 2008;38:305-313. [PMID: 18410845 DOI: 10.1016/j.pediatrneurol.2007.12.001] [Cited by in Crossref: 85] [Cited by in F6Publishing: 74] [Article Influence: 6.1] [Reference Citation Analysis]
158 Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet J Rare Dis 2013;8:193. [PMID: 24344687 DOI: 10.1186/1750-1172-8-193] [Cited by in Crossref: 36] [Cited by in F6Publishing: 36] [Article Influence: 4.0] [Reference Citation Analysis]
159 Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. JAMA Neurol 2017;74:686-94. [PMID: 28395030 DOI: 10.1001/jamaneurol.2016.4357] [Cited by in Crossref: 26] [Cited by in F6Publishing: 27] [Article Influence: 5.2] [Reference Citation Analysis]
160 Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis 2015;38:445-57. [PMID: 25352051 DOI: 10.1007/s10545-014-9778-4] [Cited by in Crossref: 49] [Cited by in F6Publishing: 47] [Article Influence: 6.1] [Reference Citation Analysis]
161 Wu Y, Balasubramaniam S, Rius R, Thorburn DR, Christodoulou J, Goranitis I. Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation. Eur J Hum Genet 2021. [PMID: 34099885 DOI: 10.1038/s41431-021-00916-8] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
162 Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. Acta Paediatr 2007;96:130-2. [PMID: 17187620 DOI: 10.1111/j.1651-2227.2007.00008.x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 14] [Article Influence: 0.8] [Reference Citation Analysis]
163 Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem 2005;51:2110-6. [PMID: 16141288 DOI: 10.1373/clinchem.2005.050146] [Cited by in Crossref: 41] [Cited by in F6Publishing: 39] [Article Influence: 2.4] [Reference Citation Analysis]
164 Ahola S, Auranen M, Isohanni P, Niemisalo S, Urho N, Buzkova J, Velagapudi V, Lundbom N, Hakkarainen A, Muurinen T, Piirilä P, Pietiläinen KH, Suomalainen A. Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. EMBO Mol Med 2016;8:1234-47. [PMID: 27647878 DOI: 10.15252/emmm.201606592] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 6.2] [Reference Citation Analysis]
165 Rantamäki MT, Soini HK, Finnilä SM, Majamaa K, Udd B. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation. Ann Neurol 2005;58:337-40. [DOI: 10.1002/ana.20555] [Cited by in Crossref: 20] [Cited by in F6Publishing: 22] [Article Influence: 1.2] [Reference Citation Analysis]
166 Remenyi V, Inczedy-Farkas G, Komlosi K, Horvath R, Maasz A, Janicsek I, Pentelenyi K, Gal A, Karcagi V, Melegh B, Molnar MJ. Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases. Mitochondrial DNA 2015;26:572-8. [PMID: 24438288 DOI: 10.3109/19401736.2013.878901] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
167 Jose T, Gdynia HJ, Mahrholdt H, Vöhringer M, Klingel K, Kandolf R, Bornemann A, Yilmaz A. CMR gives clue to "ragged red fibers" in the heart in a patient with mitochondrial myopathy. Int J Cardiol 2011;149:e24-7. [PMID: 19344965 DOI: 10.1016/j.ijcard.2009.03.057] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 0.8] [Reference Citation Analysis]
168 Golubitzky A, Dan P, Weissman S, Link G, Wikstrom JD, Saada A. Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound. PLoS One 2011;6:e26883. [PMID: 22046392 DOI: 10.1371/journal.pone.0026883] [Cited by in Crossref: 78] [Cited by in F6Publishing: 71] [Article Influence: 7.1] [Reference Citation Analysis]
169 Carelli V, Chan DC. Mitochondrial DNA: impacting central and peripheral nervous systems. Neuron 2014;84:1126-42. [PMID: 25521375 DOI: 10.1016/j.neuron.2014.11.022] [Cited by in Crossref: 67] [Cited by in F6Publishing: 65] [Article Influence: 9.6] [Reference Citation Analysis]
170 Niyazov DM, Kahler SG, Frye RE. Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Mol Syndromol 2016;7:122-37. [PMID: 27587988 DOI: 10.1159/000446586] [Cited by in Crossref: 86] [Cited by in F6Publishing: 81] [Article Influence: 14.3] [Reference Citation Analysis]
171 Balasubramaniam S, Choy YS, Talib A, Norsiah MD, van den Heuvel LP, Rodenburg RJ. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. JIMD Rep 2012;5:113-22. [PMID: 23430926 DOI: 10.1007/8904_2011_107] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.0] [Reference Citation Analysis]
172 Saneto RP. Genetics of Mitochondrial Disease. Adv Genet 2017;98:63-116. [PMID: 28942795 DOI: 10.1016/bs.adgen.2017.06.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
173 Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochim Biophys Acta 2004;1659:121-8. [PMID: 15576043 DOI: 10.1016/j.bbabio.2004.08.006] [Cited by in Crossref: 81] [Cited by in F6Publishing: 74] [Article Influence: 4.8] [Reference Citation Analysis]
174 Ke BX, Pepe S, Grubb DR, Komen JC, Laskowski A, Rodda FA, Hardman BM, Pitt JJ, Ryan MT, Lazarou M, Koleff J, Cheung MM, Smolich JJ, Thorburn DR. Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. Proc Natl Acad Sci U S A 2012;109:6165-70. [PMID: 22474353 DOI: 10.1073/pnas.1113987109] [Cited by in Crossref: 30] [Cited by in F6Publishing: 27] [Article Influence: 3.0] [Reference Citation Analysis]
175 Siebel S, Solomon BD. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. Mol Syndromol 2013;4:63-73. [PMID: 23653577 DOI: 10.1159/000346301] [Cited by in Crossref: 17] [Cited by in F6Publishing: 11] [Article Influence: 1.9] [Reference Citation Analysis]
176 van der Lee R, Szklarczyk R, Smeitink J, Smeets HJ, Huynen MA, Vogel R. Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system. BMC Genomics 2015;16:691. [PMID: 26369791 DOI: 10.1186/s12864-015-1883-8] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
177 Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 2012;49:569-77. [PMID: 22972948 DOI: 10.1136/jmedgenet-2012-101146] [Cited by in Crossref: 77] [Cited by in F6Publishing: 66] [Article Influence: 8.6] [Reference Citation Analysis]
178 Graham BH. Diagnostic challenges of mitochondrial disorders: complexities of two genomes. Methods Mol Biol 2012;837:35-46. [PMID: 22215539 DOI: 10.1007/978-1-61779-504-6_3] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
179 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr 2013;163:942-8. [PMID: 23810725 DOI: 10.1016/j.jpeds.2013.05.036] [Cited by in Crossref: 35] [Cited by in F6Publishing: 20] [Article Influence: 3.9] [Reference Citation Analysis]
180 Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol 2019;86:193-202. [PMID: 31155743 DOI: 10.1002/ana.25517] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 3.7] [Reference Citation Analysis]
181 Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature 2012;491:374-83. [DOI: 10.1038/nature11707] [Cited by in Crossref: 441] [Cited by in F6Publishing: 392] [Article Influence: 44.1] [Reference Citation Analysis]
182 Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial Diseases: Hope for the Future. Cell 2020;181:168-88. [PMID: 32220313 DOI: 10.1016/j.cell.2020.02.051] [Cited by in Crossref: 57] [Cited by in F6Publishing: 52] [Article Influence: 28.5] [Reference Citation Analysis]
183 Oldfors A, Tulinius M. Mitochondrial encephalomyopathies. Myopathies. Elsevier; 2007. pp. 125-65. [DOI: 10.1016/s0072-9752(07)86006-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
184 Komen JC, Thorburn DR. Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models. Br J Pharmacol 2014;171:1818-36. [PMID: 24102298 DOI: 10.1111/bph.12413] [Cited by in Crossref: 83] [Cited by in F6Publishing: 79] [Article Influence: 10.4] [Reference Citation Analysis]
185 Lasserre JP, Dautant A, Aiyar RS, Kucharczyk R, Glatigny A, Tribouillard-Tanvier D, Rytka J, Blondel M, Skoczen N, Reynier P, Pitayu L, Rötig A, Delahodde A, Steinmetz LM, Dujardin G, Procaccio V, di Rago JP. Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies. Dis Model Mech 2015;8:509-26. [PMID: 26035862 DOI: 10.1242/dmm.020438] [Cited by in Crossref: 83] [Cited by in F6Publishing: 70] [Article Influence: 13.8] [Reference Citation Analysis]
186 Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, Hufgard-Leitner M, Kircher SG, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Spenger J, Stulnig T, Sunder-Plassmann G, Wortmann S, Scholl-Bürgi S, Karall D; Austrian IMD Registry Group. 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021. J Inherit Metab Dis 2021. [PMID: 34595757 DOI: 10.1002/jimd.12442] [Reference Citation Analysis]
187 Janssen RJ, Distelmaier F, Smeets R, Wijnhoven T, Ostergaard E, Jaspers NG, Raams A, Kemp S, Rodenburg RJ, Willems PH, van den Heuvel LP, Smeitink JA, Nijtmans LG. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. Human Molecular Genetics 2009;18:3365-74. [DOI: 10.1093/hmg/ddp276] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 1.5] [Reference Citation Analysis]
188 Frazier AE, Thorburn DR. Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry. In: Wong, Ph.d. LC, editor. Mitochondrial Disorders. Totowa: Humana Press; 2012. pp. 49-62. [DOI: 10.1007/978-1-61779-504-6_4] [Cited by in Crossref: 65] [Cited by in F6Publishing: 65] [Article Influence: 5.9] [Reference Citation Analysis]
189 Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics 2013;102:148-56. [PMID: 23631824 DOI: 10.1016/j.ygeno.2013.04.013] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 6.2] [Reference Citation Analysis]
190 Remacle C, Barbieri MR, Cardol P, Hamel PP. Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process. Mol Genet Genomics 2008;280. [DOI: 10.1007/s00438-008-0350-5] [Cited by in Crossref: 49] [Cited by in F6Publishing: 45] [Article Influence: 3.5] [Reference Citation Analysis]
191 Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet 2016;53:634-41. [PMID: 27091925 DOI: 10.1136/jmedgenet-2015-103576] [Cited by in Crossref: 15] [Cited by in F6Publishing: 18] [Article Influence: 2.5] [Reference Citation Analysis]
192 Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat 2015;36:301-6. [PMID: 25512002 DOI: 10.1002/humu.22743] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 2.9] [Reference Citation Analysis]
193 Chauhan A, Gu F, Essa MM, Wegiel J, Kaur K, Brown WT, Chauhan V. Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism. J Neurochem 2011;117:209-20. [PMID: 21250997 DOI: 10.1111/j.1471-4159.2011.07189.x] [Cited by in Crossref: 117] [Cited by in F6Publishing: 118] [Article Influence: 10.6] [Reference Citation Analysis]
194 Lee WS, Sokol RJ. Liver disease in mitochondrial disorders. Semin Liver Dis. 2007;27:259-273. [PMID: 17682973 DOI: 10.1055/s-2007-985071] [Cited by in Crossref: 62] [Cited by in F6Publishing: 46] [Article Influence: 4.1] [Reference Citation Analysis]
195 Schapira AH. Mitochondrial disease. Lancet 2006;368:70-82. [PMID: 16815381 DOI: 10.1016/S0140-6736(06)68970-8] [Cited by in Crossref: 413] [Cited by in F6Publishing: 165] [Article Influence: 25.8] [Reference Citation Analysis]
196 Iwama I, Baba Y, Kagimoto S, Kishimoto H, Kasahara M, Murayama K, Shimizu K. Case report of a successful liver transplantation for acute liver failure due to mitochondrial respiratory chain complex III deficiency. Transplant Proc 2011;43:4025-8. [PMID: 22172894 DOI: 10.1016/j.transproceed.2011.09.042] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.1] [Reference Citation Analysis]
197 Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P. A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion 2013;13:749-54. [PMID: 23562761 DOI: 10.1016/j.mito.2013.03.010] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.1] [Reference Citation Analysis]
198 Giulivi C, Zhang YF, Omanska-Klusek A, Ross-Inta C, Wong S, Hertz-Picciotto I, Tassone F, Pessah IN. Mitochondrial dysfunction in autism. JAMA 2010;304:2389-96. [PMID: 21119085 DOI: 10.1001/jama.2010.1706] [Cited by in Crossref: 238] [Cited by in F6Publishing: 238] [Article Influence: 19.8] [Reference Citation Analysis]
199 Bai R, Higgs JD. Mitochondrial Disorders. In: Leonard DG, editor. Molecular Pathology in Clinical Practice. Cham: Springer International Publishing; 2016. pp. 139-59. [DOI: 10.1007/978-3-319-19674-9_10] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
200 Rossmann MP, Dubois SM, Agarwal S, Zon LI. Mitochondrial function in development and disease. Dis Model Mech 2021;14:dmm048912. [PMID: 34114603 DOI: 10.1242/dmm.048912] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
201 Platt J, Cox R, Enns GM. Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms. J Genet Couns 2014;23:594-603. [PMID: 24399097 DOI: 10.1007/s10897-013-9683-2] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 1.9] [Reference Citation Analysis]
202 Wabbels B, Ali N, Kunz W, Roggenkämper P, Kornblum C. Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom: Interdisziplinäre Diagnostik und Therapie. Ophthalmologe 2008;105:550-6. [DOI: 10.1007/s00347-007-1643-5] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
203 Frazier AE, Vincent AE, Turnbull DM, Thorburn DR, Taylor RW. Assessment of mitochondrial respiratory chain enzymes in cells and tissues. Methods Cell Biol 2020;155:121-56. [PMID: 32183956 DOI: 10.1016/bs.mcb.2019.11.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
204 Skladal D, Sudmeier C, Konstantopoulou V, Stöckler-Ipsiroglu S, Plecko-Startinig B, Bernert G, Zeman J, Sperl W. The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr (Phila) 2003;42:703-10. [PMID: 14601919 DOI: 10.1177/000992280304200806] [Cited by in Crossref: 37] [Cited by in F6Publishing: 37] [Article Influence: 2.1] [Reference Citation Analysis]
205 Neupane J, Vandewoestyne M, Heindryckx B, Ghimire S, Lu Y, Qian C, Lierman S, Van Coster R, Gerris J, Deroo T, Deforce D, De Sutter P. A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model. Human Reproduction 2014;29:852-9. [DOI: 10.1093/humrep/deu016] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
206 Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS. Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. J Biol Chem 2012;287:20652-63. [PMID: 22535952 DOI: 10.1074/jbc.M111.327601] [Cited by in Crossref: 39] [Cited by in F6Publishing: 19] [Article Influence: 3.9] [Reference Citation Analysis]
207 Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R, Arenas J, Martín MA, Martínez-Azorín F. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol 2013;14:195. [PMID: 24034276 DOI: 10.1186/1471-2369-14-195] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 1.8] [Reference Citation Analysis]
208 Torraco A, Diaz F, Vempati UD, Moraes CT. Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases. Biochim Biophys Acta 2009;1793:171-80. [PMID: 18601959 DOI: 10.1016/j.bbamcr.2008.06.003] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 1.8] [Reference Citation Analysis]
209 Haas RH. The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease. Mitochondrion 2007;7:S136-45. [DOI: 10.1016/j.mito.2007.03.008] [Cited by in Crossref: 55] [Cited by in F6Publishing: 47] [Article Influence: 3.7] [Reference Citation Analysis]
210 Salehi MH, Kamalidehghan B, Houshmand M, Aryani O, Sadeghizadeh M, Mossalaeie MM. Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia). Mol Biol Rep 2013;40:6495-9. [PMID: 24078096 DOI: 10.1007/s11033-013-2767-0] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 1.3] [Reference Citation Analysis]
211 Goldstein AC, Bhatia P, Vento JM. Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics 2013;10:212-26. [PMID: 23516041 DOI: 10.1007/s13311-013-0185-6] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
212 Maresca A, Del Dotto V, Romagnoli M, La Morgia C, Di Vito L, Capristo M, Valentino ML, Carelli V; ER-MITO Study Group. Expanding and validating the biomarkers for mitochondrial diseases. J Mol Med (Berl) 2020;98:1467-78. [PMID: 32851462 DOI: 10.1007/s00109-020-01967-y] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
213 Woerner AC, Vockley J. Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary. J Pediatr 2021;228:14-15.e1. [PMID: 32966804 DOI: 10.1016/j.jpeds.2020.09.037] [Reference Citation Analysis]
214 Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J. Radboud Centre for Mitochondrial Medicine Pediatric MRI score. Mitochondrion 2017;32:36-41. [PMID: 27865797 DOI: 10.1016/j.mito.2016.11.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
215 Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, Kern RL, Natowicz MR. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One 2008;3:e3815. [PMID: 19043581 DOI: 10.1371/journal.pone.0003815] [Cited by in Crossref: 138] [Cited by in F6Publishing: 137] [Article Influence: 9.9] [Reference Citation Analysis]
216 Ren C, Liu J, Zhou J, Liang H, Zhu Y, Wang Q, Leng Y, Zhang Z, Yuan Y, Wang Z, Yin Y. Lipidomic profiling of plasma samples from patients with mitochondrial disease. Biochem Biophys Res Commun 2018;500:124-31. [PMID: 29627572 DOI: 10.1016/j.bbrc.2018.03.160] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
217 Rusecka J, Kaliszewska M, Bartnik E, Tońska K. Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA. J Appl Genet 2018;59:43-57. [PMID: 29344903 DOI: 10.1007/s13353-017-0424-3] [Cited by in Crossref: 28] [Cited by in F6Publishing: 25] [Article Influence: 7.0] [Reference Citation Analysis]
218 Willems PH, Smeitink JA, Koopman WJ. Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency. Int J Biochem Cell Biol 2009;41:1773-82. [PMID: 19703648 DOI: 10.1016/j.biocel.2009.01.012] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 2.6] [Reference Citation Analysis]
219 Li M, Zhou S, Chen C, Ma L, Luo D, Tian X, Dong X, Zhou Y, Yang Y, Cui Y. Therapeutic potential of pyruvate therapy for patients with mitochondrial diseases: a systematic review. Ther Adv Endocrinol Metab 2020;11:2042018820938240. [PMID: 32695307 DOI: 10.1177/2042018820938240] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
220 Soiferman D, Ayalon O, Weissman S, Saada A. The effect of small molecules on nuclear-encoded translation diseases. Biochimie 2014;100:184-91. [PMID: 24012549 DOI: 10.1016/j.biochi.2013.08.024] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
221 Wen S, Niedzwiecka K, Zhao W, Xu S, Liang S, Zhu X, Xie H, Tribouillard-Tanvier D, Giraud MF, Zeng C, Dautant A, Kucharczyk R, Liu Z, di Rago JP, Chen H. Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy. Sci Rep 2016;6:36313. [PMID: 27812026 DOI: 10.1038/srep36313] [Cited by in Crossref: 17] [Cited by in F6Publishing: 19] [Article Influence: 2.8] [Reference Citation Analysis]
222 Tripoli G, D'Elia D, Barsanti P, Caggese C. Comparison of the oxidative phosphorylation (OXPHOS) nuclear genes in the genomes of Drosophila melanogaster, Drosophila pseudoobscura and Anopheles gambiae. Genome Biol 2005;6:R11. [PMID: 15693940 DOI: 10.1186/gb-2005-6-2-r11] [Cited by in Crossref: 41] [Cited by in F6Publishing: 39] [Article Influence: 2.4] [Reference Citation Analysis]
223 Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet 2020;98:155-65. [PMID: 32385911 DOI: 10.1111/cge.13773] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 3.5] [Reference Citation Analysis]
224 Bhandari R, Kuhad A. Resveratrol suppresses neuroinflammation in the experimental paradigm of autism spectrum disorders. Neurochemistry International 2017;103:8-23. [DOI: 10.1016/j.neuint.2016.12.012] [Cited by in Crossref: 36] [Cited by in F6Publishing: 33] [Article Influence: 7.2] [Reference Citation Analysis]
225 Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010;42:851-8. [PMID: 20818383 DOI: 10.1038/ng.659] [Cited by in Crossref: 262] [Cited by in F6Publishing: 250] [Article Influence: 21.8] [Reference Citation Analysis]
226 Cao Y, Ma Y, Zhang Y, Li Y, Fang F, Wang S, Bu D, Xu Y, Pei P, Li L, Xiao Y, Wu H, Yang Y, Zou L, Qi Y. Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies. Mitochondrion 2010;10:330-4. [DOI: 10.1016/j.mito.2010.01.008] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.6] [Reference Citation Analysis]
227 Naess K, Bruhn H, Stranneheim H, Freyer C, Wibom R, Mourier A, Engvall M, Nennesmo I, Lesko N, Wredenberg A, Wedell A, von Döbeln U. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. J Pediatr 2021;228:240-251.e2. [PMID: 32827528 DOI: 10.1016/j.jpeds.2020.08.025] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
228 Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. The impact of gender, puberty, and pregnancy in patients with POLG disease. Ann Clin Transl Neurol 2020;7:2019-25. [PMID: 32949115 DOI: 10.1002/acn3.51199] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
229 Budde SMS, van den Heuvel LPWJ, Smeets RJP, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JAM. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J Inherit Metab Dis 2003;26:813-5. [DOI: 10.1023/b:boli.0000010003.14113.af] [Cited by in Crossref: 44] [Cited by in F6Publishing: 19] [Article Influence: 2.3] [Reference Citation Analysis]
230 Ghosh A, Trivedi PP, Timbalia SA, Griffin AT, Rahn JJ, Chan SS, Gohil VM. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. Hum Mol Genet 2014;23:3596-606. [PMID: 24549041 DOI: 10.1093/hmg/ddu069] [Cited by in Crossref: 70] [Cited by in F6Publishing: 65] [Article Influence: 8.8] [Reference Citation Analysis]
231 Ruhoy IS, Saneto RP. The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:221-234. [PMID: 25419155 DOI: 10.2147/tacg.s46176] [Cited by in Crossref: 15] [Cited by in F6Publishing: 41] [Article Influence: 1.9] [Reference Citation Analysis]
232 Minoia F, Bertamino M, Picco P, Severino M, Rossi A, Fiorillo C, Minetti C, Nesti C, Santorelli FM, Di Rocco M. Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. JIMD Rep 2017;37:37-43. [PMID: 28247337 DOI: 10.1007/8904_2017_9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
233 Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Guidelines for the diagnosis and treatment of acute encephalopathy in childhood. Brain Dev 2021;43:2-31. [PMID: 32829972 DOI: 10.1016/j.braindev.2020.08.001] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 5.0] [Reference Citation Analysis]
234 Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 2008;83:468-78. [PMID: 18940309 DOI: 10.1016/j.ajhg.2008.09.009] [Cited by in Crossref: 129] [Cited by in F6Publishing: 129] [Article Influence: 9.2] [Reference Citation Analysis]
235 Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A. Mitochondrion 2021;63:1-8. [PMID: 34933128 DOI: 10.1016/j.mito.2021.12.005] [Reference Citation Analysis]
236 Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders--past, present and future. Biochim Biophys Acta. 2004;1659:115-120. [PMID: 15576042 DOI: 10.1016/j.bbabio.2004.09.005] [Cited by in Crossref: 253] [Cited by in F6Publishing: 221] [Article Influence: 14.9] [Reference Citation Analysis]
237 Saneto RP, Friedman SD, Shaw DW. Neuroimaging of mitochondrial disease. Mitochondrion 2008;8:396-413. [PMID: 18590986 DOI: 10.1016/j.mito.2008.05.003] [Cited by in Crossref: 137] [Cited by in F6Publishing: 114] [Article Influence: 9.8] [Reference Citation Analysis]
238 Piroli GG, Manuel AM, Clapper AC, Walla MD, Baatz JE, Palmiter RD, Quintana A, Frizzell N. Succination is Increased on Select Proteins in the Brainstem of the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) Knockout Mouse, a Model of Leigh Syndrome. Mol Cell Proteomics 2016;15:445-61. [PMID: 26450614 DOI: 10.1074/mcp.M115.051516] [Cited by in Crossref: 30] [Cited by in F6Publishing: 17] [Article Influence: 4.3] [Reference Citation Analysis]
239 Louw R, Smuts I, Wilsenach KL, Jonck LM, Schoonen M, van der Westhuizen FH. The dilemma of diagnosing coenzyme Q10 deficiency in muscle. Mol Genet Metab 2018;125:38-43. [PMID: 29530532 DOI: 10.1016/j.ymgme.2018.02.015] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
240 Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev 2010;16:129-35. [PMID: 20818727 DOI: 10.1002/ddrr.103] [Cited by in Crossref: 46] [Cited by in F6Publishing: 33] [Article Influence: 4.2] [Reference Citation Analysis]
241 Tucker EJ, Compton AG, Thorburn DR. Recent advances in the genetics of mitochondrial encephalopathies. Curr Neurol Neurosci Rep 2010;10:277-85. [PMID: 20446063 DOI: 10.1007/s11910-010-0112-8] [Cited by in Crossref: 39] [Cited by in F6Publishing: 34] [Article Influence: 3.3] [Reference Citation Analysis]
242 T M T, N T T T, P C C. Reply to letter to the editor. Radiol Case Rep 2021;16:4001-2. [PMID: 34765053 DOI: 10.1016/j.radcr.2021.08.037] [Reference Citation Analysis]
243 Verity CM, Winstone AM, Stellitano L, Krishnakumar D, Will R, McFarland R. The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study. Dev Med Child Neurol 2010;52:434-40. [PMID: 19747204 DOI: 10.1111/j.1469-8749.2009.03463.x] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 2.1] [Reference Citation Analysis]
244 Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G, Scheres SHW, Ramakrishnan V. Structure of the large ribosomal subunit from human mitochondria. Science. 2014;346:718-722. [PMID: 25278503 DOI: 10.1126/science.1258026] [Cited by in Crossref: 196] [Cited by in F6Publishing: 183] [Article Influence: 24.5] [Reference Citation Analysis]
245 Thorburn DR. Diverse powerhouses. Nat Genet 2004;36:13-4. [DOI: 10.1038/ng0104-13] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 0.8] [Reference Citation Analysis]
246 Pilch J, Asman M, Jamroz E, Kajor M, Kotrys-puchalska E, Goss M, Krzak M, Witecka J, Gmiński J, Sieroń AL. Surveyor Nuclease Detection of Mutations and Polymorphisms of mtDNA in Children. Pediatric Neurology 2010;43:325-30. [DOI: 10.1016/j.pediatrneurol.2010.05.023] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
247 Lee HF, Chi CS, Tsai CR, Chen CH. Epileptic seizures in infants and children with mitochondrial diseases. Pediatr Neurol 2011;45:169-74. [PMID: 21824564 DOI: 10.1016/j.pediatrneurol.2011.04.008] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.3] [Reference Citation Analysis]
248 Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008;83:254-60. [PMID: 18674747 DOI: 10.1016/j.ajhg.2008.07.004] [Cited by in Crossref: 381] [Cited by in F6Publishing: 323] [Article Influence: 27.2] [Reference Citation Analysis]
249 Nakouzi G, Kreidieh K, Yazbek S. A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services. J Community Genet 2015;6:83-105. [PMID: 25261319 DOI: 10.1007/s12687-014-0203-3] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
250 Knudsen TB, Green ML. Response characteristics of the mitochondrial DNA genome in developmental health and disease. Birth Defects Res C Embryo Today 2004;72:313-29. [PMID: 15662705 DOI: 10.1002/bdrc.20028] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 0.8] [Reference Citation Analysis]
251 Gerards M, Sallevelt SC, Smeets HJ. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options. Mol Genet Metab. 2016;117:300-312. [PMID: 26725255 DOI: 10.1016/j.ymgme.2015.12.004] [Cited by in Crossref: 59] [Cited by in F6Publishing: 46] [Article Influence: 8.4] [Reference Citation Analysis]
252 Torrell H, Salas A, Abasolo N, Morén C, Garrabou G, Valero J, Alonso Y, Vilella E, Costas J, Martorell L. Mitochondrial DNA (mtDNA) variants in the European haplogroups HV, JT, and U do not have a major role in schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2014;165B:607-17. [PMID: 25132006 DOI: 10.1002/ajmg.b.32264] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 0.6] [Reference Citation Analysis]
253 Saneto RP. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing. J Transl Genet Genom 2020;4:384-428. [PMID: 33426505 DOI: 10.20517/jtgg.2020.40] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
254 Jeyakumar A, Williamson ME, Brickman TM, Krakovitz P, Parikh S. Otolaryngologic manifestations of mitochondrial cytopathies. Am J Otolaryngol 2009;30:162-5. [PMID: 19410120 DOI: 10.1016/j.amjoto.2008.04.008] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 0.4] [Reference Citation Analysis]
255 Lerman J. Perioperative management of the paediatric patient with coexisting neuromuscular disease. Br J Anaesth 2011;107 Suppl 1:i79-89. [PMID: 22156273 DOI: 10.1093/bja/aer335] [Cited by in Crossref: 48] [Cited by in F6Publishing: 19] [Article Influence: 4.8] [Reference Citation Analysis]
256 Ehinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. Nat Commun 2016;7:12317. [PMID: 27502960 DOI: 10.1038/ncomms12317] [Cited by in Crossref: 61] [Cited by in F6Publishing: 59] [Article Influence: 10.2] [Reference Citation Analysis]
257 Chandra SR, Padmanabha H, Gupta M, Pruthi N, Narayanappa G, Christopher R. Myelopathy in Two Brothers with Respiratory Chain Disorder-Severe Complex 1 Deficiency with Atlantoaxial Dislocation and Long Spinal Arachnoid Cyst: A New Unreported Association. J Pediatr Neurosci 2020;15:45-50. [PMID: 32435307 DOI: 10.4103/JPN.JPN_94_19] [Reference Citation Analysis]
258 Peralta S, González-quintana A, Ybarra M, Delmiro A, Pérez-pérez R, Docampo J, Arenas J, Blázquez A, Ugalde C, Martín MA. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Molecular Genetics and Metabolism 2019;128:452-62. [DOI: 10.1016/j.ymgme.2019.10.012] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
259 Trounce IA, Crouch PJ, Carey KT, Mckenzie M. Modulation of ceramide-induced cell death and superoxide production by mitochondrial DNA-encoded respiratory chain defects in Rattus xenocybrid mouse cells. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2013;1827:817-25. [DOI: 10.1016/j.bbabio.2013.03.012] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
260 Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. Neurol Genet 2017;3:e187. [PMID: 28955726 DOI: 10.1212/NXG.0000000000000187] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
261 Hämäläinen RH. Mitochondria and mtDNA integrity in stem cell function and differentiation. Curr Opin Genet Dev 2016;38:83-9. [PMID: 27219871 DOI: 10.1016/j.gde.2016.04.008] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
262 Suomalainen A. Biomarkers for mitochondrial respiratory chain disorders. J Inherit Metab Dis 2011;34:277-82. [PMID: 20941643 DOI: 10.1007/s10545-010-9222-3] [Cited by in Crossref: 32] [Cited by in F6Publishing: 31] [Article Influence: 2.7] [Reference Citation Analysis]
263 Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep 2021;11:3531. [PMID: 33574353 DOI: 10.1038/s41598-021-81015-y] [Reference Citation Analysis]
264 Wong LJ. Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion 2007;7:45-52. [PMID: 17276740 DOI: 10.1016/j.mito.2006.11.025] [Cited by in Crossref: 49] [Cited by in F6Publishing: 40] [Article Influence: 3.1] [Reference Citation Analysis]
265 Liang C, Ahmad K, Sue CM. The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm. Biochim Biophys Acta 2014;1840:1360-7. [PMID: 24239706 DOI: 10.1016/j.bbagen.2013.10.040] [Cited by in Crossref: 31] [Cited by in F6Publishing: 26] [Article Influence: 3.4] [Reference Citation Analysis]
266 Fang H, Shi H, Li X, Sun D, Li F, Li B, Ding Y, Ma Y, Liu Y, Zhang Y, Shen L, Bai Y, Yang Y, Lu J. Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation. Sci Rep 2015;5:10480. [PMID: 26014388 DOI: 10.1038/srep10480] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 2.1] [Reference Citation Analysis]
267 Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016;79:190-203. [PMID: 26506407 DOI: 10.1002/ana.24551] [Cited by in Crossref: 214] [Cited by in F6Publishing: 182] [Article Influence: 30.6] [Reference Citation Analysis]
268 Renkema GH, Wortmann SB, Smeets RJ, Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ, Smeitink JA, Rodenburg RJ. SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. Eur J Hum Genet 2015;23:202-9. [PMID: 24781757 DOI: 10.1038/ejhg.2014.80] [Cited by in Crossref: 44] [Cited by in F6Publishing: 40] [Article Influence: 5.5] [Reference Citation Analysis]
269 Craigen WJ. Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects. In: Wong, Ph.d. LC, editor. Mitochondrial Disorders. Totowa: Humana Press; 2012. pp. 3-15. [DOI: 10.1007/978-1-61779-504-6_1] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 1.2] [Reference Citation Analysis]
270 Smuts I, Louw R, du Toit H, Klopper B, Mienie LJ, van der Westhuizen FH. An overview of a cohort of South African patients with mitochondrial disorders. J Inherit Metab Dis 2010;33 Suppl 3:S95-104. [PMID: 20135231 DOI: 10.1007/s10545-009-9031-8] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 0.9] [Reference Citation Analysis]
271 Lim SC, Hroudová J, Van Bergen NJ, Lopez Sanchez MI, Trounce IA, McKenzie M. Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly. FASEB J 2016;30:2236-48. [PMID: 26929434 DOI: 10.1096/fj.201500137R] [Cited by in Crossref: 26] [Cited by in F6Publishing: 17] [Article Influence: 4.3] [Reference Citation Analysis]
272 Forbes JM, Ke BX, Nguyen TV, Henstridge DC, Penfold SA, Laskowski A, Sourris KC, Groschner LN, Cooper ME, Thorburn DR, Coughlan MT. Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease. Antioxid Redox Signal 2013;19:331-43. [PMID: 23320803 DOI: 10.1089/ars.2012.4719] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 2.7] [Reference Citation Analysis]
273 Lazarou M, Thorburn DR, Ryan MT, McKenzie M. Assembly of mitochondrial complex I and defects in disease. Biochim Biophys Acta 2009;1793:78-88. [PMID: 18501715 DOI: 10.1016/j.bbamcr.2008.04.015] [Cited by in Crossref: 142] [Cited by in F6Publishing: 139] [Article Influence: 10.1] [Reference Citation Analysis]
274 Theunissen TEJ, Gerards M, Hellebrekers DMEI, van Tienen FH, Kamps R, Sallevelt SCEH, Hartog ENMM, Scholte HR, Verdijk RM, Schoonderwoerd K, de Coo IFM, Szklarczyk R, Smeets HJM. Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect. Front Mol Neurosci 2017;10:336. [PMID: 29093663 DOI: 10.3389/fnmol.2017.00336] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
275 Ehinger JK, Karlsson M, Sjövall F, Leffler M, McCormack SE, Kubis SE, Åkesson A, Falk MJ, Kilbaugh TJ. Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatr Res 2021. [PMID: 33627817 DOI: 10.1038/s41390-021-01410-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
276 Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol 2009;5:e1000374. [PMID: 19390613 DOI: 10.1371/journal.pcbi.1000374] [Cited by in Crossref: 59] [Cited by in F6Publishing: 49] [Article Influence: 4.5] [Reference Citation Analysis]
277 Zurita Rendón O, Silva Neiva L, Sasarman F, Shoubridge EA. The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. Hum Mol Genet 2014;23:5159-70. [PMID: 24838397 DOI: 10.1093/hmg/ddu239] [Cited by in Crossref: 40] [Cited by in F6Publishing: 35] [Article Influence: 5.0] [Reference Citation Analysis]
278 McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009;265:210-28. [PMID: 19192037 DOI: 10.1111/j.1365-2796.2008.02066.x] [Cited by in Crossref: 52] [Cited by in F6Publishing: 45] [Article Influence: 4.0] [Reference Citation Analysis]
279 Naber M, Hellebrekers D, Nievelstein RAJ, van Hasselt PM, van Jaarsveld RH, Cuppen I, Oegema R. Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency. Eur J Med Genet 2021;64:104120. [PMID: 33278652 DOI: 10.1016/j.ejmg.2020.104120] [Reference Citation Analysis]
280 Vellarikkal SK, Dhiman H, Joshi K, Hasija Y, Sivasubbu S, Scaria V. mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets. Hum Mutat 2015;36:419-24. [PMID: 25677119 DOI: 10.1002/humu.22767] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 3.1] [Reference Citation Analysis]