| Year |
Citation |
Score |
| 2021 |
Adashi EY, Rubenstein DS, Mossman JA, Schon EA, Cohen IG. Mitochondrial disease: Replace or edit? Science (New York, N.Y.). 373: 1200-1201. PMID 34516801 DOI: 10.1126/science.abg0491 |
0.355 |
|
| 2019 |
Larrea D, Pera M, Gonelli A, Cabrera RQ, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M. MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. Human Molecular Genetics. PMID 30649465 DOI: 10.1093/Hmg/Ddz008 |
0.535 |
|
| 2019 |
Area-Gomez E, Guardia-Laguarta C, Schon EA, Przedborski S. Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas. The Journal of Clinical Investigation. 129: 34-45. PMID 30601141 DOI: 10.1172/Jci120848 |
0.504 |
|
| 2018 |
Schon EA. Bioenergetics through thick and thin. Science (New York, N.Y.). 362: 1114-1115. PMID 30523097 DOI: 10.1126/Science.Aav7629 |
0.463 |
|
| 2018 |
Siegmund SE, Grassucci R, Carter SD, Barca E, Farino ZJ, Juanola-Falgarona M, Zhang P, Tanji K, Hirano M, Schon EA, Frank J, Freyberg Z. Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography. Iscience. 6: 83-91. PMID 30240627 DOI: 10.1016/J.Isci.2018.07.014 |
0.534 |
|
| 2018 |
Area-Gomez E, de Groof A, Bonilla E, Montesinos J, Tanji K, Boldogh I, Pon L, Schon EA. A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease. Cell Death & Disease. 9: 335. PMID 29491396 DOI: 10.1038/S41419-017-0215-0 |
0.464 |
|
| 2018 |
Rebelo AP, Saade D, Pereira CP, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain : a Journal of Neurology. PMID 29351582 DOI: 10.1093/Brain/Awx369 |
0.417 |
|
| 2017 |
Pera M, Larrea D, Guardia-Laguarta C, Montesinos J, Velasco KR, Agrawal RR, Xu Y, Chan RB, Di Paolo G, Mehler MF, Perumal GS, Macaluso FP, Freyberg ZZ, Acin-Perez R, Enriquez JA, ... Schon EA, et al. Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease. The Embo Journal. PMID 29018038 DOI: 10.15252/Embj.201796797 |
0.423 |
|
| 2017 |
Siegmund S, Yang H, Sharma R, Javors M, Skinner O, Mootha V, Hirano M, Schon EA. Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. Human Molecular Genetics. PMID 28973153 DOI: 10.1093/Hmg/Ddx341 |
0.517 |
|
| 2017 |
Area-Gomez E, Schon EA. On the Pathogenesis of Alzheimer's Disease: The MAM Hypothesis. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 31: 864-867. PMID 28246299 DOI: 10.1096/Fj.201601309 |
0.336 |
|
| 2016 |
Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ. Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability. The Embo Journal. PMID 27436875 DOI: 10.15252/Embj.201694892 |
0.517 |
|
| 2016 |
Area-Gomez E, Schon EA. Mitochondria-associated ER membranes and Alzheimer disease. Current Opinion in Genetics & Development. 38: 90-96. PMID 27235807 DOI: 10.1016/J.Gde.2016.04.006 |
0.352 |
|
| 2016 |
Cloonan SM, Glass K, Laucho-Contreras ME, Bhashyam AR, Cervo M, Pabón MA, Konrad C, Polverino F, Siempos II, Perez E, Mizumura K, Ghosh MC, Parameswaran H, Williams NC, Rooney KT, ... ... Schon EA, et al. Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in mice. Nature Medicine. PMID 26752519 DOI: 10.1038/Nm.4021 |
0.387 |
|
| 2015 |
Tambini MD, Pera M, Kanter E, Yang H, Guardia-Laguarta C, Holtzman D, Sulzer D, Area-Gomez E, Schon EA. ApoE4 upregulates the activity of mitochondria-associated ER membranes. Embo Reports. PMID 26564908 DOI: 10.15252/Embr.201540614 |
0.323 |
|
| 2015 |
Guardia-Laguarta C, Area-Gomez E, Schon EA, Przedborski S. A new role for α-synuclein in Parkinson's disease: Alteration of ER-mitochondrial communication. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1026-33. PMID 25952565 DOI: 10.1002/Mds.26239 |
0.402 |
|
| 2015 |
Martínez-Morentin L, Martínez L, Piloto S, Yang H, Schon EA, Garesse R, Bodmer R, Ocorr K, Cervera M, Arredondo JJ. Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model. Human Molecular Genetics. 24: 3608-22. PMID 25792727 DOI: 10.1093/Hmg/Ddv106 |
0.444 |
|
| 2015 |
Guardia-Laguarta C, Area-Gomez E, Schon EA, Przedborski S. Novel subcellular localization for α-synuclein: possible functional consequences. Frontiers in Neuroanatomy. 9: 17. PMID 25755636 DOI: 10.3389/Fnana.2015.00017 |
0.378 |
|
| 2014 |
Area-Gomez E, Schon EA. Mitochondrial genetics and disease. Journal of Child Neurology. 29: 1208-15. PMID 25028417 DOI: 10.1177/0883073814539561 |
0.531 |
|
| 2014 |
Cerutti R, Pirinen E, Lamperti C, Marchet S, Sauve AA, Li W, Leoni V, Schon EA, Dantzer F, Auwerx J, Viscomi C, Zeviani M. NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease. Cell Metabolism. 19: 1042-9. PMID 24814483 DOI: 10.1016/J.Cmet.2014.04.001 |
0.532 |
|
| 2014 |
Tyynismaa H, Schon EA. Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders? Embo Molecular Medicine. 6: 155-7. PMID 24473201 DOI: 10.1002/Emmm.201303586 |
0.532 |
|
| 2014 |
Guardia-Laguarta C, Area-Gomez E, Rüb C, Liu Y, Magrané J, Becker D, Voos W, Schon EA, Przedborski S. α-Synuclein is localized to mitochondria-associated ER membranes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 249-59. PMID 24381286 DOI: 10.1523/Jneurosci.2507-13.2014 |
0.449 |
|
| 2013 |
DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nature Reviews. Neurology. 9: 429-44. PMID 23835535 DOI: 10.1038/Nrneurol.2013.126 |
0.524 |
|
| 2013 |
Tang G, Gutierrez Rios P, Kuo SH, Akman HO, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D. Mitochondrial abnormalities in temporal lobe of autistic brain. Neurobiology of Disease. 54: 349-61. PMID 23333625 DOI: 10.1016/J.Nbd.2013.01.006 |
0.503 |
|
| 2013 |
Schon EA, Area-Gomez E. Mitochondria-associated ER membranes in Alzheimer disease. Molecular and Cellular Neurosciences. 55: 26-36. PMID 22922446 DOI: 10.1016/J.Mcn.2012.07.011 |
0.354 |
|
| 2012 |
Schon EA, DiMauro S, Hirano M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nature Reviews. Genetics. 13: 878-90. PMID 23154810 DOI: 10.1038/Nrg3275 |
0.538 |
|
| 2012 |
Area-Gomez E, Del Carmen Lara Castillo M, Tambini MD, Guardia-Laguarta C, de Groof AJ, Madra M, Ikenouchi J, Umeda M, Bird TD, Sturley SL, Schon EA. Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. The Embo Journal. 31: 4106-23. PMID 22892566 DOI: 10.1038/Emboj.2012.202 |
0.379 |
|
| 2012 |
Gutiérrez RÃos P, Kalra AA, Wilson JD, Tanji K, Akman HO, Area Gómez E, Schon EA, DiMauro S. Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. Archives of Neurology. 69: 657-61. PMID 22782513 DOI: 10.1001/Archneurol.2011.2333 |
0.47 |
|
| 2012 |
DiMauro S, Tanji K, Schon EA. The many clinical faces of cytochrome c oxidase deficiency. Advances in Experimental Medicine and Biology. 748: 341-57. PMID 22729865 DOI: 10.1007/978-1-4614-3573-0_14 |
0.509 |
|
| 2012 |
Qiu C, Kumar S, Guo J, Lu J, Shi S, Kalachikov SM, Russo JJ, Naini AB, Schon EA, Ju J. Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotides Analytical Biochemistry. 427: 202-210. PMID 22579594 DOI: 10.1016/J.Ab.2012.05.001 |
0.416 |
|
| 2012 |
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, et al. Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations. Orphanet Journal of Rare Diseases. 7: 21. PMID 22515166 DOI: 10.1186/1750-1172-7-21 |
0.783 |
|
| 2012 |
Chan DC, Schon EA. Eliminating mitochondrial DNA from sperm. Developmental Cell. 22: 469-70. PMID 22421036 DOI: 10.1016/J.Devcel.2012.02.008 |
0.451 |
|
| 2012 |
de Vries RL, Gilkerson RW, Przedborski S, Schon EA. Mitophagy in cells with mtDNA mutations: being sick is not enough. Autophagy. 8: 699-700. PMID 22361618 DOI: 10.4161/Auto.19470 |
0.535 |
|
| 2012 |
Gilkerson RW, De Vries RL, Lebot P, Wikstrom JD, Torgyekes E, Shirihai OS, Przedborski S, Schon EA. Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition. Human Molecular Genetics. 21: 978-90. PMID 22080835 DOI: 10.1093/Hmg/Ddr529 |
0.545 |
|
| 2012 |
Rios PG, Kalra AA, Wilson J, Tanji K, Akman H, Area E, Schon E, DiMauro S. Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase beta (CHKB) Gene (P01.116) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P01.116 |
0.448 |
|
| 2011 |
Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, Schon EA, Lamperti C, Zeviani M. In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. Cell Metabolism. 14: 80-90. PMID 21723506 DOI: 10.1016/J.Cmet.2011.04.011 |
0.482 |
|
| 2011 |
Schon EA, Przedborski S. Mitochondria: the next (neurode)generation. Neuron. 70: 1033-53. PMID 21689593 DOI: 10.1016/J.Neuron.2011.06.003 |
0.498 |
|
| 2010 |
Papeta N, Zheng Z, Schon EA, Brosel S, Altintas MM, Nasr SH, Reiser J, D'Agati VD, Gharavi AG. Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice. The Journal of Clinical Investigation. 120: 4055-64. PMID 20978358 DOI: 10.1172/Jci43721 |
0.81 |
|
| 2010 |
Brosel S, Yang H, Tanji K, Bonilla E, Schon EA. Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease. The American Journal of Pathology. 177: 2541-8. PMID 20864674 DOI: 10.2353/Ajpath.2010.100229 |
0.797 |
|
| 2010 |
Schon EA, DiMauro S, Hirano M, Gilkerson RW. Therapeutic prospects for mitochondrial disease. Trends in Molecular Medicine. 16: 268-76. PMID 20556877 DOI: 10.1016/J.Molmed.2010.04.007 |
0.529 |
|
| 2010 |
Schon EA, Area-Gomez E. Is Alzheimer's disease a disorder of mitochondria-associated membranes? Journal of Alzheimer's Disease : Jad. 20: S281-92. PMID 20421691 DOI: 10.3233/Jad-2010-100495 |
0.351 |
|
| 2010 |
Yang H, Brosel S, Acin-Perez R, Slavkovich V, Nishino I, Khan R, Goldberg IJ, Graziano J, Manfredi G, Schon EA. Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Human Molecular Genetics. 19: 170-80. PMID 19837698 DOI: 10.1093/Hmg/Ddp477 |
0.803 |
|
| 2010 |
Schon EA, Gilkerson RW. Functional complementation of mitochondrial DNAs: mobilizing mitochondrial genetics against dysfunction. Biochimica Et Biophysica Acta. 1800: 245-9. PMID 19616602 DOI: 10.1016/J.Bbagen.2009.07.007 |
0.536 |
|
| 2009 |
Acin-Perez R, Salazar E, Brosel S, Yang H, Schon EA, Manfredi G. Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects. Embo Molecular Medicine. 1: 392-406. PMID 20049744 DOI: 10.1002/Emmm.200900046 |
0.805 |
|
| 2009 |
Area-Gomez E, de Groof AJ, Boldogh I, Bird TD, Gibson GE, Koehler CM, Yu WH, Duff KE, Yaffe MP, Pon LA, Schon EA. Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. The American Journal of Pathology. 175: 1810-6. PMID 19834068 DOI: 10.2353/Ajpath.2009.090219 |
0.375 |
|
| 2009 |
Schon EA, Dencher NA. Heavy breathing: energy conversion by mitochondrial respiratory supercomplexes. Cell Metabolism. 9: 1-3. PMID 19117538 DOI: 10.1016/J.Cmet.2008.12.011 |
0.411 |
|
| 2008 |
Gilkerson RW, Schon EA. Nucleoid autonomy: An underlying mechanism of mitochondrial genetics with therapeutic potential. Communicative & Integrative Biology. 1: 34-6. PMID 19704786 DOI: 10.4161/Cib.1.1.6622 |
0.516 |
|
| 2008 |
Lim YM, de Groof AJ, Bhattacharjee MK, Figurski DH, Schon EA. Bacterial conjugation in the cytoplasm of mouse cells. Infection and Immunity. 76: 5110-9. PMID 18765719 DOI: 10.1128/Iai.00445-08 |
0.69 |
|
| 2008 |
Zhou C, Huang Y, Shao Y, May J, Prou D, Perier C, Dauer W, Schon EA, Przedborski S. The kinase domain of mitochondrial PINK1 faces the cytoplasm. Proceedings of the National Academy of Sciences of the United States of America. 105: 12022-7. PMID 18687899 DOI: 10.1073/Pnas.0802814105 |
0.392 |
|
| 2008 |
Gilkerson RW, Schon EA, Hernandez E, Davidson MM. Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation. The Journal of Cell Biology. 181: 1117-28. PMID 18573913 DOI: 10.1083/Jcb.200712101 |
0.538 |
|
| 2008 |
Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. A functionally dominant mitochondrial DNA mutation. Human Molecular Genetics. 17: 1814-20. PMID 18337306 DOI: 10.1093/Hmg/Ddn073 |
0.532 |
|
| 2008 |
DiMauro S, Schon EA. Mitochondrial disorders in the nervous system. Annual Review of Neuroscience. 31: 91-123. PMID 18333761 DOI: 10.1146/Annurev.Neuro.30.051606.094302 |
0.474 |
|
| 2008 |
Schon EA. A toolkit for the cell's powerhouse. Nature Biotechnology. 26: 294-6. PMID 18327238 DOI: 10.1038/Nbt0308-294 |
0.323 |
|
| 2007 |
Schon EA, DiMauro S. Mitochondrial mutations: genotype to phenotype. Novartis Foundation Symposium. 287: 214-25; discussion 2. PMID 18074641 DOI: 10.1002/9780470725207.Ch15 |
0.492 |
|
| 2007 |
Schon EA. Appendix 6. Changes in the mitochondrial transcriptome and proteome under various stresses and growth conditions. Methods in Cell Biology. 80: 877-87. PMID 17445728 DOI: 10.1016/S0091-679X(06)80045-2 |
0.363 |
|
| 2007 |
Schon EA. Appendix 5. Gene products present in mitochondria of yeast and animal cells. Methods in Cell Biology. 80: 835-76. PMID 17445727 DOI: 10.1016/S0091-679X(06)80044-0 |
0.373 |
|
| 2007 |
Schon EA. Appendix 4. Mitochondrial genetic codes in various organisms. Methods in Cell Biology. 80: 831-3. PMID 17445726 DOI: 10.1016/S0091-679X(06)80043-9 |
0.4 |
|
| 2007 |
Schon EA. Appendix 3. Linearized maps of circular mitochondrial genomes from representative organisms. Methods in Cell Biology. 80: 827-9. PMID 17445725 DOI: 10.1016/S0091-679X(06)80042-7 |
0.374 |
|
| 2006 |
Khrapko K, Kraytsberg Y, de Grey AD, Vijg J, Schon EA. Does premature aging of the mtDNA mutator mouse prove that mtDNA mutations are involved in natural aging? Aging Cell. 5: 279-82. PMID 16842501 DOI: 10.1111/J.1474-9726.2006.00209.X |
0.409 |
|
| 2006 |
DiMauro S, Hirano M, Schon EA. Approaches to the treatment of mitochondrial diseases. Muscle & Nerve. 34: 265-83. PMID 16810684 DOI: 10.1002/Mus.20598 |
0.509 |
|
| 2006 |
Schon EA. Power, sex, suicide Mitochondria and the meaning of life Journal of Clinical Investigation. 116: 1742-1742. DOI: 10.1172/Jci29253 |
0.303 |
|
| 2005 |
Zanssen S, Schon EA. Mitochondrial DNA mutations in cancer. Plos Medicine. 2: e401. PMID 16288567 DOI: 10.1371/Journal.Pmed.0020401 |
0.473 |
|
| 2005 |
Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA. Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". Journal of the Neurological Sciences. 229: 187-93. PMID 15760638 DOI: 10.1016/J.Jns.2004.11.026 |
0.34 |
|
| 2005 |
Williams JC, Sue C, Banting GB, Yang H, Glerum DM, Hendrickson WA, Schon EA. Crystal structure of human SCO1: Implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein Journal of Biological Chemistry. 280: 15202-15211. PMID 15659396 DOI: 10.1074/Jbc.M410705200 |
0.352 |
|
| 2004 |
Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. Archives of Neurology. 61: 1935-7. PMID 15596615 DOI: 10.1001/Archneur.61.12.1935 |
0.505 |
|
| 2004 |
Santra S, Gilkerson RW, Davidson M, Schon EA. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Annals of Neurology. 56: 662-9. PMID 15389892 DOI: 10.1002/Ana.20240 |
0.526 |
|
| 2004 |
Schon EA. Complements of the house. The Journal of Clinical Investigation. 114: 760-2. PMID 15372098 DOI: 10.1172/Jci22942 |
0.508 |
|
| 2004 |
Pallotti F, Baracca A, Hernandez-Rosa E, Walker WF, Solaini G, Lenaz G, Melzi D'Eril GV, Dimauro S, Schon EA, Davidson MM. Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. The Biochemical Journal. 384: 287-93. PMID 15324306 DOI: 10.1042/Bj20040561 |
0.509 |
|
| 2004 |
Samuels DC, Schon EA, Chinnery PF. Two direct repeats cause most human mtDNA deletions. Trends in Genetics : Tig. 20: 393-8. PMID 15313545 DOI: 10.1016/J.Tig.2004.07.003 |
0.51 |
|
| 2004 |
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet (London, England). 364: 592-6. PMID 15313359 DOI: 10.1016/S0140-6736(04)16851-7 |
0.405 |
|
| 2004 |
Zanssen S, Gunawan B, Fuzesi L, Warburton D, Schon EA. Renal oncocytomas with rearrangements involving 11q13 contain breakpoints near CCND1. Cancer Genetics and Cytogenetics. 149: 120-4. PMID 15036887 DOI: 10.1016/J.Cancergencyto.2003.11.009 |
0.366 |
|
| 2003 |
Schon EA, DiMauro S. Medicinal and genetic approaches to the treatment of mitochondrial disease. Current Medicinal Chemistry. 10: 2523-33. PMID 14529468 DOI: 10.2174/0929867033456503 |
0.415 |
|
| 2003 |
Gajewski CD, Yang L, Schon EA, Manfredi G. New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters. Molecular Biology of the Cell. 14: 3628-35. PMID 12972552 DOI: 10.1091/Mbc.E02-12-0796 |
0.51 |
|
| 2003 |
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. The New England Journal of Medicine. 348: 2656-68. PMID 12826641 DOI: 10.1056/Nejmra022567 |
0.533 |
|
| 2003 |
Schon EA, Manfredi G. Neuronal degeneration and mitochondrial dysfunction. The Journal of Clinical Investigation. 111: 303-12. PMID 12569152 DOI: 10.1172/Jci17741 |
0.543 |
|
| 2002 |
Ojaimi J, Pan J, Santra S, Snell WJ, Schon EA. An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Molecular Biology of the Cell. 13: 3836-44. PMID 12429828 DOI: 10.1091/Mbc.E02-05-0306 |
0.539 |
|
| 2002 |
DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle & Nerve. 26: 597-607. PMID 12402281 DOI: 10.1002/Mus.10194 |
0.491 |
|
| 2002 |
Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V, Martinuzzi A, Hauswirth WW, Lewin AS. Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Annals of Neurology. 52: 534-42. PMID 12402249 DOI: 10.1002/Ana.10354 |
0.494 |
|
| 2002 |
Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. American Journal of Human Genetics. 71: 679-83. PMID 12152148 DOI: 10.1086/342482 |
0.604 |
|
| 2002 |
Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, d'Amati G, Schon EA, DiMauro S, Hirano M, Davidson MM. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. Biochemical and Biophysical Research Communications. 293: 521-9. PMID 12054632 DOI: 10.1016/S0006-291X(02)00256-5 |
0.559 |
|
| 2002 |
Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Archives of Neurology. 59: 862-5. PMID 12020273 DOI: 10.1001/Archneur.59.5.862 |
0.392 |
|
| 2002 |
Schon EA, Naini A, Shanske S. Identification of mutations in mtDNA from patients suffering mitochondrial diseases. Methods in Molecular Biology (Clifton, N.J.). 197: 55-74. PMID 12013813 DOI: 10.1385/1-59259-284-8:055 |
0.516 |
|
| 2002 |
Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, Davidson MM. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. The Biochemical Journal. 363: 321-7. PMID 11931660 DOI: 10.1042/Bj3630321 |
0.411 |
|
| 2002 |
Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, Guy J, Schon EA. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nature Genetics. 30: 394-9. PMID 11925565 DOI: 10.1038/Ng851 |
0.546 |
|
| 2002 |
Wiedemann FR, Manfredi G, Mawrin C, Beal MF, Schon EA. Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. Journal of Neurochemistry. 80: 616-25. PMID 11841569 DOI: 10.1046/J.0022-3042.2001.00731.X |
0.415 |
|
| 2001 |
Schon EA, Santra S, Pallotti F, Girvin ME. Pathogenesis of primary defects in mitochondrial ATP synthesis Seminars in Cell and Developmental Biology. 12: 441-448. PMID 11735378 DOI: 10.1006/Scdb.2001.0281 |
0.457 |
|
| 2001 |
DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. American Journal of Medical Genetics. 106: 18-26. PMID 11579421 DOI: 10.1002/Ajmg.1392 |
0.556 |
|
| 2001 |
Umeda S, Tang Y, Okamoto M, Hamasaki N, Schon EA, Kang D. Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs. Biochemical and Biophysical Research Communications. 286: 681-7. PMID 11520050 DOI: 10.1006/Bbrc.2001.5436 |
0.606 |
|
| 2000 |
DiMauro S, Hirano M, Schon EA. Mitochondrial encephalomyopathies: therapeutic approaches. Neurological Sciences. 21. PMID 11382187 DOI: 10.1007/S100720070001 |
0.428 |
|
| 2000 |
Schon EA, Kim SH, Ferreira JC, Magalhaes P, Grace M, Warburton D, Gross SJ. Chromosomal non-disjunction in human oocytes: Is there a mitochondrial connection? Human Reproduction. 15: 160-172. PMID 11041522 DOI: 10.1093/Humrep/15.Suppl_2.160 |
0.468 |
|
| 2000 |
Tanji K, Schon EA, DiMauro S, Bonilla E. Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. Journal of the Neurological Sciences. 178: 29-36. PMID 11018246 DOI: 10.1016/S0022-510X(00)00354-3 |
0.509 |
|
| 2000 |
Tang Y, Manfredi G, Hirano M, Schon EA. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Molecular Biology of the Cell. 11: 2349-58. PMID 10888673 DOI: 10.1091/Mbc.11.7.2349 |
0.658 |
|
| 2000 |
Sue CM, Schon EA. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start? Brain Pathology. 10: 442-450. PMID 10885663 DOI: 10.1111/J.1750-3639.2000.Tb00276.X |
0.509 |
|
| 2000 |
Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S. Intragenic Inversion of mtDNA: A New Type of Pathogenic Mutation in a Patient with Mitochondrial Myopathy American Journal of Human Genetics. 66: 1900-1904. PMID 10775530 DOI: 10.1086/302927 |
0.54 |
|
| 2000 |
Tang Y, Schon EA, Wilichowski E, Vazquez-Memije ME, Davidson E, King MP. Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Molecular Biology of the Cell. 11: 1471-85. PMID 10749943 DOI: 10.1091/Mbc.11.4.1471 |
0.668 |
|
| 1999 |
Evans MJ, Gurer C, Loike JD, Wilmut I, Schnieke AE, Schon EA. Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep. Nature Genetics. 23: 90-3. PMID 10471506 DOI: 10.1038/12696 |
0.424 |
|
| 1999 |
Brini M, Pinton P, King MP, Davidson M, Schon EA, Rizzuto R. A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. Nature Medicine. 5: 951-4. PMID 10426322 DOI: 10.1038/11396 |
0.411 |
|
| 1999 |
Manfredi G, Gupta N, Vazquez-Memije ME, Sadlock JE, Spinazzola A, De Vivo DC, Schon EA. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. The Journal of Biological Chemistry. 274: 9386-91. PMID 10092618 DOI: 10.1074/Jbc.274.14.9386 |
0.528 |
|
| 1999 |
Bonilla E, Tanji K, Hirano M, Vu TH, DiMauro S, Schon EA. Mitochondrial involvement in Alzheimer's disease. Biochimica Et Biophysica Acta. 1410: 171-82. PMID 10076025 DOI: 10.1016/S0005-2728(98)00165-0 |
0.516 |
|
| 1999 |
Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Annals of Neurology. 45: 377-83. PMID 10072053 DOI: 10.1002/1531-8249(199903)45:3<377::Aid-Ana14>3.0.Co;2-M |
0.479 |
|
| 1998 |
Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E. Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction. Muscle & Nerve. 21: 1374-81. PMID 9771659 DOI: 10.1002/(Sici)1097-4598(199811)21:11<1374::Aid-Mus3>3.0.Co;2-6 |
0.362 |
|
| 1998 |
Magalhães PJ, Andreu AL, Schon EA. Evidence for the presence of 5S rRNA in mammalian mitochondria. Molecular Biology of the Cell. 9: 2375-2382. PMID 9725900 DOI: 10.1091/Mbc.9.9.2375 |
0.509 |
|
| 1998 |
DiMauro S, Bonilla E, Davidson M, Hirano M, Schon EA. Mitochondria in neuromuscular disorders. Biochimica Et Biophysica Acta. 1366: 199-210. PMID 9714805 DOI: 10.1016/S0005-2728(98)00113-3 |
0.566 |
|
| 1998 |
DiMauro S, Schon EA. Nuclear power and mitochondrial disease Nature Genetics. 19: 214-215. PMID 9662387 DOI: 10.1038/883 |
0.413 |
|
| 1998 |
Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC. Clinical manifestations of mitochondrial DNA depletion. Neurology. 50: 1783-90. PMID 9633728 DOI: 10.1212/Wnl.50.6.1783 |
0.47 |
|
| 1998 |
Schon EA, Grossman MH. Mitochondrial diseases: genetics. Biofactors. 7: 191-195. PMID 9568244 DOI: 10.1002/Biof.5520070304 |
0.442 |
|
| 1998 |
Walker UA, Schon EA. Neurotrophin‐4 is up‐regulated in ragged‐red fibers associated with pathogenic mitochondrial DNA mutations Annals of Neurology. 43: 536-540. PMID 9546339 DOI: 10.1002/Ana.410430421 |
0.363 |
|
| 1998 |
Dimauro S, Schon EA. Mitochondrial DNA and Diseases of the Nervous System: The Spectrum The Neuroscientist. 4: 53-63. DOI: 10.1177/107385849800400113 |
0.533 |
|
| 1997 |
Hirano M, Shtilbans A, Mayeux R, Davidson MM, DiMauro S, Knowles JA, Schon EA. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proceedings of the National Academy of Sciences of the United States of America. 94: 14894-9. PMID 9405710 DOI: 10.1073/Pnas.94.26.14894 |
0.413 |
|
| 1997 |
Manfredi G, Thyagarajan D, Papadopoulou LC, Pallotti F, Schon EA. The fate of human sperm-derived mtDNA in somatic cells. American Journal of Human Genetics. 61: 953-60. PMID 9382109 DOI: 10.1086/514887 |
0.436 |
|
| 1997 |
Fromenty B, Carrozzo R, Shanske S, Schon EA. High proportions of mtDNA duplications in patients with Kearns‐Sayre syndrome occur in the heart American Journal of Medical Genetics. 71: 443-452. PMID 9286453 DOI: 10.1002/(Sici)1096-8628(19970905)71:4<443::Aid-Ajmg14>3.0.Co;2-G |
0.458 |
|
| 1997 |
Manfredi G, Vu T, Bonilla E, Schon EA, DiMauro S, Arnaudo E, Zhang L, Rowland LP, Hirano M. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? Annals of Neurology. 42: 180-8. PMID 9266727 DOI: 10.1002/Ana.410420208 |
0.428 |
|
| 1997 |
Schon EA, Bonilla E, DiMauro S. Mitochondrial DNA mutations and pathogenesis. Journal of Bioenergetics and Biomembranes. 29: 131-149. PMID 9239539 DOI: 10.1023/A:1022685929755 |
0.516 |
|
| 1997 |
Masucci JP, Schon EA, King MP. Point mutations in the mitochondrial tRNA Lys gene: Implications for pathogenesis and mechanism Molecular and Cellular Biochemistry. 174: 215-219. DOI: 10.1007/978-1-4615-6111-8_33 |
0.576 |
|
| 1996 |
Moraes CT, Schon EA. [44] Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR Methods in Enzymology. 264: 522-536. PMID 8965724 DOI: 10.1016/S0076-6879(96)64046-4 |
0.475 |
|
| 1996 |
Masucci JP, Schon EA. Trna Processing In Human Mitochondrial Disorders Molecular Biology Reports. 22: 187-193. PMID 8901509 DOI: 10.1007/Bf00988727 |
0.483 |
|
| 1996 |
Manfredi G, Schon EA, Bonilla E, Moraes CT, Shanske S, DiMauro S. Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy Human Mutation. 7: 158-163. PMID 8829635 DOI: 10.1002/(Sici)1098-1004(1996)7:2<158::Aid-Humu12>3.0.Co;2-1 |
0.543 |
|
| 1996 |
Fromenty B, Manfredi G, Sadlock J, Zhang L, King MP, Schon EA. Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochimica Et Biophysica Acta. 1308: 222-30. PMID 8809114 DOI: 10.1016/0167-4781(96)00110-8 |
0.449 |
|
| 1996 |
Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA. Mitochondrial DNA and RNA processing in MELAS. Annals of Neurology. 40: 172-80. PMID 8773598 DOI: 10.1002/Ana.410400208 |
0.532 |
|
| 1995 |
Masucci JP, Davidson M, Koga Y, Schon EA, King MP. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Molecular and Cellular Biology. 15: 2872-81. PMID 7739567 DOI: 10.1128/Mcb.15.5.2872 |
0.556 |
|
| 1995 |
Sparaco M, Schon EA, DiMauro S, Bonilla E. Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain. Brain Pathology. 5: 125-133. PMID 7670653 DOI: 10.1111/J.1750-3639.1995.Tb00586.X |
0.434 |
|
| 1995 |
Moraes CT, Sciacco M, Ricci E, Tengan CH, Hao H, Bonilla E, Schon EA, DiMauro S. Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions Muscle and Nerve. 18. PMID 7603517 DOI: 10.1002/Mus.880181429 |
0.463 |
|
| 1995 |
Koga Y, Davidson M, Schon EA, King MP. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene. Muscle & Nerve. Supplement. 3: S119-23. PMID 7603512 DOI: 10.1002/Mus.880181424 |
0.551 |
|
| 1995 |
Chen X, Bonilla E, Sciacco M, Schon EA. Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. Biochimica Et Biophysica Acta. 1271: 229-33. PMID 7599213 DOI: 10.1016/0925-4439(95)00032-Y |
0.455 |
|
| 1995 |
Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, Dimauro S. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene Neuromuscular Disorders. 5: 391-398. PMID 7496173 DOI: 10.1016/0960-8966(94)00079-O |
0.52 |
|
| 1995 |
Moraes CT, Schon EA. Replication of a heteroplasmic population of normal and partially-deleted human mitochondrial genomes Progress in Cell Research. 5: 209-215. DOI: 10.1016/B978-0-444-82235-2.50039-4 |
0.508 |
|
| 1994 |
Sciacco M, Bonilla E, Schon EA, Dimauro S, Moraes CT. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy Human Molecular Genetics. 3: 13-19. PMID 8162014 DOI: 10.1093/Hmg/3.1.13 |
0.409 |
|
| 1994 |
Schon EA, Hirano M, DiMauro S. Mitochondrial encephalomyopathies: clinical and molecular analysis. Journal of Bioenergetics and Biomembranes. 26: 291-299. PMID 8077182 DOI: 10.1007/Bf00763100 |
0.488 |
|
| 1994 |
Petruzzella V, Moraes CT, Sano MC, Bonilla SE, Dimauro S, Schon EA. Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243 Human Molecular Genetics. 3: 449-454. PMID 7912129 DOI: 10.1093/Hmg/3.3.449 |
0.4 |
|
| 1993 |
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA Neuromuscular Disorders. 3: 43-50. PMID 8392410 DOI: 10.1016/0960-8966(93)90040-Q |
0.51 |
|
| 1993 |
Sadlock JE, Lightowlers RN, Capaldi RA, Schon EA. Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase Bba - Gene Structure and Expression. 1172: 223-225. PMID 8382530 DOI: 10.1016/0167-4781(93)90301-S |
0.411 |
|
| 1993 |
Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? The Journal of Clinical Investigation. 92: 2906-15. PMID 8254046 DOI: 10.1172/Jci116913 |
0.514 |
|
| 1993 |
Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, Dimauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease Nature Genetics. 4: 284-288. PMID 7689388 DOI: 10.1038/Ng0793-284 |
0.525 |
|
| 1993 |
Koga Y, Davidson M, Schon EA, King MP. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Nucleic Acids Research. 21: 657-62. PMID 7680123 DOI: 10.1093/Nar/21.3.657 |
0.522 |
|
| 1992 |
King MP, Koga Y, Davidson M, Schon EA. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Molecular and Cellular Biology. 12: 480-90. PMID 1732728 DOI: 10.1128/Mcb.12.2.480 |
0.574 |
|
| 1992 |
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, ... ... Schon EA, et al. MELAS: Clinical features, biochemistry, and molecular genetics Annals of Neurology. 31: 391-398. PMID 1586140 DOI: 10.1002/Ana.410310408 |
0.501 |
|
| 1992 |
Simonetti S, Chen X, DiMauro S, Schon EA. Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochimica Et Biophysica Acta. 1180: 113-122. PMID 1463763 DOI: 10.1016/0925-4439(92)90059-V |
0.446 |
|
| 1992 |
Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. Journal of the Neurological Sciences. 111: 222-226. PMID 1431990 DOI: 10.1016/0022-510X(92)90074-U |
0.469 |
|
| 1992 |
Petruzzella V, Chen X, Schon EA. Is a point mutation in the mitochondrial ND2 gene associated with alzheimer's disease? Biochemical and Biophysical Research Communications. 186: 491-497. PMID 1352971 DOI: 10.1016/S0006-291X(05)80834-4 |
0.48 |
|
| 1992 |
Fabrizi GM, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M, Schon EA. Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase Gene. 119: 307-312. PMID 1327966 DOI: 10.1016/0378-1119(92)90288-Z |
0.307 |
|
| 1992 |
Arnaudo E, Hirano M, Seelan RS, Milatovich A, Hsieh CL, Fabrizi GM, Grossman LI, Francke U, Schon EA. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. Gene. 119: 299-305. PMID 1327965 DOI: 10.1016/0378-1119(92)90287-Y |
0.324 |
|
| 1992 |
Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E. Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions Nature Genetics. 1: 359-367. PMID 1284549 DOI: 10.1038/Ng0892-359 |
0.529 |
|
| 1992 |
Schon EA, Koga Y, Davidson M, Moraes CT, King MP. The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis Biochimica Et Biophysica Acta. 1101: 206-209. DOI: 10.1016/0005-2728(92)90226-R |
0.533 |
|
| 1991 |
Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA. Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region Molecular and Cellular Biology. 11: 1631-1637. PMID 1996112 DOI: 10.1128/Mcb.11.3.1631 |
0.452 |
|
| 1991 |
Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology. 41: 1663-4. PMID 1922812 DOI: 10.1212/Wnl.41.10.1663 |
0.503 |
|
| 1991 |
Tritschler HJ, Bonilla E, Lombes A, Andreetta F, Servidei S, Schneyder B, Miranda AF, Schon EA, Kadenbach B, DiMauro S. Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach. Neurology. 41: 300-5. PMID 1846953 DOI: 10.1212/Wnl.41.2_Part_1.300 |
0.405 |
|
| 1991 |
Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW, DiMauro S. Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry? American Journal of Medical Genetics. 41: 301-305. PMID 1789283 DOI: 10.1002/Ajmg.1320410308 |
0.506 |
|
| 1991 |
Arnaudo E, Shanske S, DiMauro S, Schon EA, Moraes CT, Dalakas M. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy The Lancet. 337: 508-510. PMID 1671889 DOI: 10.1016/0140-6736(91)91294-5 |
0.411 |
|
| 1991 |
Andreetta F, Tritschler HJ, Schon EA, DiMauro S, Bonilla E. Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies. Journal of the Neurological Sciences. 105: 88-92. PMID 1665507 DOI: 10.1016/0022-510X(91)90123-O |
0.472 |
|
| 1991 |
DiMauro S, Simonetti S, Shanske S, Schon EA. Mitochondrial dysfunction as a mechanism of CNS injury Journal of the Neurological Sciences. 106: 116-117. DOI: 10.1016/0022-510X(91)90233-W |
0.404 |
|
| 1990 |
Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, Koga Y, Dimauro S, Schon EA. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA Nucleic Acids Research. 18: 561-567. PMID 2308845 DOI: 10.1093/Nar/18.3.561 |
0.431 |
|
| 1990 |
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA. Cytochrome c oxidase deficiency. Pediatric Research. 28: 536-41. PMID 2175026 DOI: 10.1203/00006450-199011000-00025 |
0.461 |
|
| 1990 |
Lomax MI, Coucouvanis E, Schon EA, Barald KF. Differential expression of nuclear genes for cytochrome c oxidase during myogenesis Muscle and Nerve. 13: 330-337. PMID 2162485 DOI: 10.1002/Mus.880130409 |
0.348 |
|
| 1989 |
Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA Science. 244: 346-349. PMID 2711184 DOI: 10.1126/Science.2711184 |
0.526 |
|
| 1989 |
Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proceedings of the National Academy of Sciences of the United States of America. 86: 9509-9513. PMID 2556715 DOI: 10.1073/Pnas.86.23.9509 |
0.472 |
|
| 1989 |
Edwards YH, Sakoda S, Schon E, Povey S. The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics. 5: 948-951. PMID 2556344 DOI: 10.1016/0888-7543(89)90140-7 |
0.303 |
|
| 1989 |
Moraes CT, Schon EA, DiMauro S, Miranda AF. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome Biochemical and Biophysical Research Communications. 160: 765-771. PMID 2541710 DOI: 10.1016/0006-291X(89)92499-6 |
0.507 |
|
| 1988 |
Bonilla E, Miranda AF, Prelle A, Salviati G, Betto R, Zeviani M, Schon EA, DiMauro S, Rowland LP. Immunocytochemical study of nebulin in Duchenne muscular dystrophy. Neurology. 38: 1600-3. PMID 3419605 DOI: 10.1212/Wnl.38.10.1600 |
0.315 |
|
| 1988 |
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 38: 1339-46. PMID 3412580 DOI: 10.1212/Wnl.38.9.1339 |
0.537 |
|
| 1988 |
Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA. Subunit Va of human and bovine cytochrome c oxidase is highly conserved. Gene. 69: 245-256. PMID 2853101 DOI: 10.1016/0378-1119(88)90435-0 |
0.375 |
|
| 1988 |
DiMauro S, Zeviani M, Rizzuto R, Lombes A, Nakase H, Bonilla E, Miranda A, Schon E. Molecular defects in cytochrome oxidase in mitochondrial diseases. Journal of Bioenergetics and Biomembranes. 20: 353-364. PMID 2841309 DOI: 10.1007/Bf00769637 |
0.516 |
|
| 1988 |
Zeviani M, Sakoda S, Sherbany AA, Nakase H, Rizzuto R, Samitt CE, DiMauro S, Schon EA. Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase. Gene. 65: 1-11. PMID 2840351 DOI: 10.1016/0378-1119(88)90411-8 |
0.38 |
|
| 1987 |
Zeviani M, Masanori N, Herbert J, Lomax MI, Grossman LI, Sherbany AA, Miranda AF, DiMauro S, Schon EA. Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase Gene. 55: 205-217. PMID 2444497 DOI: 10.1016/0378-1119(87)90281-2 |
0.447 |
|
| Show low-probability matches. |