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For: Janssen AJ, Smeitink JA, van den Heuvel LP. Some practical aspects of providing a diagnostic service for respiratory chain defects. Ann Clin Biochem 2003;40:3-8. [PMID: 12542905 DOI: 10.1258/000456303321016114] [Cited by in Crossref: 49] [Cited by in F6Publishing: 46] [Article Influence: 2.6] [Reference Citation Analysis]
Number Citing Articles
1 Jonckheere AI, Smeitink JA, Rodenburg RJ. Mitochondrial ATP synthase: architecture, function and pathology. J Inherit Metab Dis 2012;35:211-25. [PMID: 21874297 DOI: 10.1007/s10545-011-9382-9] [Cited by in Crossref: 264] [Cited by in F6Publishing: 243] [Article Influence: 24.0] [Reference Citation Analysis]
2 Pillen S, Verrips A, van Alfen N, Arts IM, Sie LT, Zwarts MJ. Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease. Neuromuscul Disord 2007;17:509-16. [PMID: 17537635 DOI: 10.1016/j.nmd.2007.03.008] [Cited by in Crossref: 134] [Cited by in F6Publishing: 117] [Article Influence: 8.9] [Reference Citation Analysis]
3 Willis J, Capaldi R, Huigsloot M, Rodenburg R, Smeitink J, Marusich M. Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2009;1787:533-8. [DOI: 10.1016/j.bbabio.2008.10.009] [Cited by in Crossref: 28] [Cited by in F6Publishing: 28] [Article Influence: 2.2] [Reference Citation Analysis]
4 Satogami K, Takahashi S, Kose A, Shinosaki K. Schizophrenia-like symptoms in a patient with Leigh syndrome. Asian Journal of Psychiatry 2017;25:249-50. [DOI: 10.1016/j.ajp.2016.12.012] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.2] [Reference Citation Analysis]
5 Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-retzow J, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. Mitochondrion 2011;11:954-63. [DOI: 10.1016/j.mito.2011.08.012] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 2.9] [Reference Citation Analysis]
6 Koopman WJ, Renders M, Oosterhof A, van Kuppevelt TH, van Engelen BG, Willems PH. Upregulation of Ca2+ removal in human skeletal muscle: a possible role for Ca2+-dependent priming of mitochondrial ATP synthesis. Am J Physiol Cell Physiol 2003;285:C1263-9. [PMID: 12839829 DOI: 10.1152/ajpcell.00097.2003] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.4] [Reference Citation Analysis]
7 Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Mitochondrial energy production correlates with the age-related BMI. Pediatr Res 2009;65:103-8. [PMID: 19096353 DOI: 10.1203/PDR.0b013e31818d1c8a] [Cited by in Crossref: 26] [Cited by in F6Publishing: 15] [Article Influence: 2.0] [Reference Citation Analysis]
8 Greenberg SA, Walsh RJ. Molecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease. Muscle Nerve 2005;31:431-51. [DOI: 10.1002/mus.20279] [Cited by in Crossref: 15] [Cited by in F6Publishing: 6] [Article Influence: 0.9] [Reference Citation Analysis]
9 Jonckheere AI, Huigsloot M, Janssen AJ, Kappen AJ, Smeitink JA, Rodenburg RJ. High-Throughput Assay to Measure Oxygen Consumption in Digitonin-Permeabilized Cells of Patients with Mitochondrial Disorders. Clinical Chemistry 2010;56:424-31. [DOI: 10.1373/clinchem.2009.131441] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 1.6] [Reference Citation Analysis]
10 Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. BMJ Case Rep 2009;2009:bcr07. [PMID: 21686774 DOI: 10.1136/bcr.07.2008.0504] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 0.7] [Reference Citation Analysis]
11 Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 2014;85:257-265. [PMID: 23772060 DOI: 10.1136/jnnp-2012-304426] [Cited by in Crossref: 111] [Cited by in F6Publishing: 89] [Article Influence: 12.3] [Reference Citation Analysis]
12 Wortmann S, Rodenburg R, Huizing M, Loupatty F, de Koning T, Kluijtmans L, Engelke U, Wevers R, Smeitink J, Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Molecular Genetics and Metabolism 2006;88:47-52. [DOI: 10.1016/j.ymgme.2006.01.013] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 2.6] [Reference Citation Analysis]
13 Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet 2010;18:324-9. [PMID: 19809478 DOI: 10.1038/ejhg.2009.169] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 2.1] [Reference Citation Analysis]
14 Bird MJ, Adant I, Windmolders P, Vander Elst I, Felgueira C, Altassan R, Gruenert SC, Ghesquière B, Witters P, Cassiman D, Vermeersch P. Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease. Metabolites 2019;9:E220. [PMID: 31658717 DOI: 10.3390/metabo9100220] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
15 de Vries MC, Rodenburg RJ, Morava E, Lammens M, van den Heuvel LPW, Korenke GC, Smeitink JAM. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note. J Inherit Metab Dis 2008;31:299-302. [DOI: 10.1007/s10545-008-0871-4] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 0.9] [Reference Citation Analysis]
16 Schirris TJ, Ritschel T, Herma Renkema G, Willems PH, Smeitink JA, Russel FG. Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicity. Sci Rep 2015;5:14533. [PMID: 26416158 DOI: 10.1038/srep14533] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
17 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]
18 Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet 2008;82:1306-15. [PMID: 18513682 DOI: 10.1016/j.ajhg.2008.05.007] [Cited by in Crossref: 93] [Cited by in F6Publishing: 82] [Article Influence: 6.6] [Reference Citation Analysis]
19 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]
20 Ghose A, Taylor CM, Howie AJ, Chalasani A, Hargreaves I, Milford DV. Measurement of Respiratory Chain Enzyme Activity in Human Renal Biopsy Specimens. J Clin Med 2017;6:E90. [PMID: 28925945 DOI: 10.3390/jcm6090090] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
21 Hirsch A, Hahn D, Kempná P, Hofer G, Nuoffer JM, Mullis PE, Flück CE. Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology 2012;153:4354-66. [PMID: 22778212 DOI: 10.1210/en.2012-1145] [Cited by in Crossref: 38] [Cited by in F6Publishing: 37] [Article Influence: 3.8] [Reference Citation Analysis]
22 Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum Mutat 2017;38:1786-95. [PMID: 28905505 DOI: 10.1002/humu.23340] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 2.8] [Reference Citation Analysis]
23 Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet 2011;19:394-9. [PMID: 21189481 DOI: 10.1038/ejhg.2010.214] [Cited by in Crossref: 69] [Cited by in F6Publishing: 62] [Article Influence: 5.8] [Reference Citation Analysis]
24 Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest 2021;131:143078. [PMID: 33945503 DOI: 10.1172/JCI143078] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
25 Jeppesen TD, Quistorff B, Wibrand F, Vissing J. 31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy. J Neurol 2007;254:29-37. [PMID: 17278044 DOI: 10.1007/s00415-006-0229-5] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 1.7] [Reference Citation Analysis]
26 de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr 2007;166:229-34. [PMID: 16957900 DOI: 10.1007/s00431-006-0234-9] [Cited by in Crossref: 52] [Cited by in F6Publishing: 50] [Article Influence: 3.3] [Reference Citation Analysis]
27 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]
28 Smits P, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. J Inherit Metab Dis 2010;33 Suppl 3:S13-9. [PMID: 24137763 DOI: 10.1007/s10545-009-0968-4] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.9] [Reference Citation Analysis]
29 Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 2006;79:869-77. [PMID: 17033963 DOI: 10.1086/508434] [Cited by in Crossref: 138] [Cited by in F6Publishing: 126] [Article Influence: 8.6] [Reference Citation Analysis]
30 Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C. MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation. Can J Neurol Sci 2014;41:210-9. [PMID: 24534033 DOI: 10.1017/s0317167100016607] [Cited by in Crossref: 11] [Cited by in F6Publishing: 4] [Article Influence: 1.8] [Reference Citation Analysis]
31 Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. Hum Genet 2017;136:759-69. [PMID: 28386624 DOI: 10.1007/s00439-017-1794-7] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
32 Verkaart S, Koopman WJ, van Emst-de Vries SE, Nijtmans LG, van den Heuvel LW, Smeitink JA, Willems PH. Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2007;1772:373-81. [DOI: 10.1016/j.bbadis.2006.12.009] [Cited by in Crossref: 92] [Cited by in F6Publishing: 93] [Article Influence: 6.1] [Reference Citation Analysis]
33 Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A 2006;140:863-8. [PMID: 16532470 DOI: 10.1002/ajmg.a.31194] [Cited by in Crossref: 55] [Cited by in F6Publishing: 52] [Article Influence: 4.2] [Reference Citation Analysis]
34 Miles MV, Miles L, Tang PH, Horn PS, Steele PE, Degrauw AJ, Wong BL, Bove KE. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008;8:170-80. [DOI: 10.1016/j.mito.2008.01.003] [Cited by in Crossref: 35] [Cited by in F6Publishing: 33] [Article Influence: 2.5] [Reference Citation Analysis]
35 Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur J Hum Genet 2011;19:275-9. [PMID: 21119709 DOI: 10.1038/ejhg.2010.208] [Cited by in Crossref: 33] [Cited by in F6Publishing: 28] [Article Influence: 2.8] [Reference Citation Analysis]
36 Valsecchi F, Koopman WJ, Manjeri GR, Rodenburg RJ, Smeitink JA, Willems PH. Complex I disorders: Causes, mechanisms, and development of treatment strategies at the cellular level. Dev Disabil Res Revs 2010;16:175-82. [DOI: 10.1002/ddrr.107] [Cited by in Crossref: 39] [Cited by in F6Publishing: 34] [Article Influence: 3.3] [Reference Citation Analysis]
37 Meyer A, Charles AL, Zoll J, Guillot M, Lejay A, Singh F, Schlagowski AI, Isner-Horobeti ME, Pistea C, Charloux A, Geny B. Cryopreservation with dimethyl sulfoxide prevents accurate analysis of skinned skeletal muscle fibers mitochondrial respiration. Biochimie 2014;100:227-33. [PMID: 24472439 DOI: 10.1016/j.biochi.2014.01.014] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.9] [Reference Citation Analysis]
38 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]
39 de Haas R, Das D, Garanto A, Renkema HG, Greupink R, van den Broek P, Pertijs J, Collin RWJ, Willems P, Beyrath J, Heerschap A, Russel FG, Smeitink JA. Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease. Sci Rep 2017;7:11733. [PMID: 28916769 DOI: 10.1038/s41598-017-09417-5] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 4.0] [Reference Citation Analysis]
40 Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004;14:237-45. [PMID: 15019701 DOI: 10.1016/j.nmd.2003.12.004] [Cited by in Crossref: 142] [Cited by in F6Publishing: 129] [Article Influence: 7.9] [Reference Citation Analysis]
41 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]
42 Hoefs SJ, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Molecular base of biochemical complex I deficiency. Mitochondrion 2012;12:520-32. [DOI: 10.1016/j.mito.2012.07.106] [Cited by in Crossref: 27] [Cited by in F6Publishing: 27] [Article Influence: 2.7] [Reference Citation Analysis]
43 Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK; Mitochondrial Medicine Society's Committee on Diagnosis. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008;94:16-37. [PMID: 18243024 DOI: 10.1016/j.ymgme.2007.11.018] [Cited by in Crossref: 234] [Cited by in F6Publishing: 210] [Article Influence: 16.7] [Reference Citation Analysis]
44 Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S. NOA1 is an essential GTPase required for mitochondrial protein synthesis. Mol Biol Cell 2011;22:1-11. [PMID: 21118999 DOI: 10.1091/mbc.E10-07-0643] [Cited by in Crossref: 42] [Cited by in F6Publishing: 30] [Article Influence: 3.5] [Reference Citation Analysis]
45 Rodenburg RJ. Biochemical diagnosis of mitochondrial disorders. J Inherit Metab Dis 2011;34:283-92. [PMID: 20440652 DOI: 10.1007/s10545-010-9081-y] [Cited by in Crossref: 118] [Cited by in F6Publishing: 115] [Article Influence: 9.8] [Reference Citation Analysis]
46 Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology. Clinical Chemistry 2006;52:860-71. [DOI: 10.1373/clinchem.2005.062414] [Cited by in Crossref: 76] [Cited by in F6Publishing: 73] [Article Influence: 4.8] [Reference Citation Analysis]