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For: 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]
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12 Kirmse B, Yao TJ, Hofherr S, Kacanek D, Williams PL, Hobbs CV, Hazra R, Borkowsky W, Van Dyke RB, Summar M. Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States. AIDS Res Hum Retroviruses 2016;32:339-48. [PMID: 26548585 DOI: 10.1089/AID.2015.0112] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
13 Sofou K, Steneryd K, Wiklund L, Tulinius M, Darin N. MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion 2013;13:364-71. [DOI: 10.1016/j.mito.2013.04.008] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 3.0] [Reference Citation Analysis]
14 Zhang B, Angelidou A, Alysandratos KD, Vasiadi M, Francis K, Asadi S, Theoharides A, Sideri K, Lykouras L, Kalogeromitros D, Theoharides TC. Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children. J Neuroinflammation 2010;7:80. [PMID: 21083929 DOI: 10.1186/1742-2094-7-80] [Cited by in Crossref: 56] [Cited by in F6Publishing: 54] [Article Influence: 4.7] [Reference Citation Analysis]
15 Steele HE, Horvath R, Lyon JJ, Chinnery PF. Monitoring clinical progression with mitochondrial disease biomarkers. Brain. 2017;140:2530-2540. [PMID: 28969370 DOI: 10.1093/brain/awx168] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 6.2] [Reference Citation Analysis]
16 Castejón-Vega B, Battino M, Quiles JL, Bullon B, Cordero MD, Bullón P. Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre. Antioxidants (Basel) 2021;10:95. [PMID: 33445524 DOI: 10.3390/antiox10010095] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Santos JL, Cataldo LR, Cortés-rivera C, Bravo C, Díaz-casanova L, Martínez JA, Milagro FI, Galgani J. Plasma lactate and leukocyte mitochondrial DNA copy number as biomarkers of insulin sensitivity in non-diabetic women. J Physiol Biochem 2019;75:285-97. [DOI: 10.1007/s13105-019-00672-w] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
18 Miles MV, Putnam PE, Miles L, Tang PH, DeGrauw AJ, Wong BL, Horn PS, Foote HL, Rothenberg ME. Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies. Mitochondrion 2011;11:127-35. [PMID: 20817046 DOI: 10.1016/j.mito.2010.08.010] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 1.4] [Reference Citation Analysis]
19 Zhang L, Chan SS, Wolff DJ. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med 2011;135:925-34. [PMID: 21732785 DOI: 10.5858/2010-0356-RAR.1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
20 Lee SR, Han J. Mitochondrial Mutations in Cardiac Disorders. Adv Exp Med Biol 2017;982:81-111. [PMID: 28551783 DOI: 10.1007/978-3-319-55330-6_5] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 3.0] [Reference Citation Analysis]
21 Prasun P. Rare variant of unknown significance in POLG1 and diagnostic dilemma. J Neurol 2014;261:2218-20. [DOI: 10.1007/s00415-014-7493-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
22 Theoharides TC, Asadi S, Panagiotidou S, Weng Z. The "missing link" in autoimmunity and autism: extracellular mitochondrial components secreted from activated live mast cells. Autoimmun Rev 2013;12:1136-42. [PMID: 23831684 DOI: 10.1016/j.autrev.2013.06.018] [Cited by in Crossref: 31] [Cited by in F6Publishing: 28] [Article Influence: 3.4] [Reference Citation Analysis]
23 Craig AK, de Menezes MS, Saneto RP. Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects. Seizure 2012;21:17-20. [PMID: 21906962 DOI: 10.1016/j.seizure.2011.08.010] [Cited by in Crossref: 16] [Cited by in F6Publishing: 18] [Article Influence: 1.5] [Reference Citation Analysis]
24 Cordero MD, Moreno-fernández AM, Carmona-lópez MI, Sánchez-alcázar JA, Rodríguez AF, Navas P, de Miguel M. Mitochondrial dysfunction in skin biopsies and blood mononuclear cells from two cases of fibromyalgia patients. Clinical Biochemistry 2010;43:1174-6. [DOI: 10.1016/j.clinbiochem.2010.06.013] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 0.8] [Reference Citation Analysis]
25 Fellman V, Suomalainen A. Mitochondrial disorders in the perinatal period. Semin Fetal Neonatal Med 2011;16:173-4. [PMID: 21665560 DOI: 10.1016/j.siny.2011.04.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
26 Kang H, Lee Y, Kim HD. Mitochondrial disease and epilepsy. Brain and Development 2013;35:757-61. [DOI: 10.1016/j.braindev.2013.01.006] [Cited by in Crossref: 29] [Cited by in F6Publishing: 28] [Article Influence: 3.2] [Reference Citation Analysis]
27 Fine AS, Nemeth CL, Kaufman ML, Fatemi A. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination. J Neurodev Disord 2019;11:29. [PMID: 31839000 DOI: 10.1186/s11689-019-9292-y] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 7.0] [Reference Citation Analysis]
28 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]
29 Marin SE, Saneto RP. Neuropsychiatric Features in Primary Mitochondrial Disease. Neurol Clin 2016;34:247-94. [PMID: 26614002 DOI: 10.1016/j.ncl.2015.08.011] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
30 Kemppainen E, George J, Garipler G, Tuomela T, Kiviranta E, Soga T, Dunn CD, Jacobs HT. Mitochondrial Dysfunction Plus High-Sugar Diet Provokes a Metabolic Crisis That Inhibits Growth. PLoS One 2016;11:e0145836. [PMID: 26812173 DOI: 10.1371/journal.pone.0145836] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 3.2] [Reference Citation Analysis]
31 Davis RE, Williams M. Mitochondrial function and dysfunction: an update. J Pharmacol Exp Ther 2012;342:598-607. [PMID: 22700430 DOI: 10.1124/jpet.112.192104] [Cited by in Crossref: 43] [Cited by in F6Publishing: 45] [Article Influence: 4.3] [Reference Citation Analysis]
32 Maguire Á, Mooney C, Flynn G, Ferguson Y, O'Keane V, O'Rourke D, McMonagle T, Heaton R, Phillips S, Hargreaves I, Gill M, Hargreaves A. No Effect of Coenzyme Q10 on Cognitive Function, Psychological Symptoms, and Health-related Outcomes in Schizophrenia and Schizoaffective Disorder: Results of a Randomized, Placebo-Controlled Trial. J Clin Psychopharmacol 2021;41:53-7. [PMID: 33347024 DOI: 10.1097/JCP.0000000000001330] [Reference Citation Analysis]
33 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]
34 Enns GM, Cowan TM. Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy. J Clin Med 2017;6:E50. [PMID: 28467362 DOI: 10.3390/jcm6050050] [Cited by in Crossref: 31] [Cited by in F6Publishing: 29] [Article Influence: 6.2] [Reference Citation Analysis]
35 Shatla HM, Tomoum HY, Elsayed SM, Elagouza IA, Shatla RH, Mohsen MM, Hamed AN. Role of Plasma Amino Acids and Urinary Organic Acids in Diagnosis of Mitochondrial Diseases in Children. Pediatric Neurology 2014;51:820-5. [DOI: 10.1016/j.pediatrneurol.2014.08.009] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
36 Enns GM. Pediatric mitochondrial diseases and the heart. Curr Opin Pediatr 2017;29:541-51. [PMID: 28719387 DOI: 10.1097/MOP.0000000000000535] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 2.8] [Reference Citation Analysis]
37 Cohen BH, Saneto RP. Mitochondrial translational inhibitors in the pharmacopeia. Biochim Biophys Acta 2012;1819:1067-74. [PMID: 22421540 DOI: 10.1016/j.bbagrm.2012.02.023] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.4] [Reference Citation Analysis]
38 Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY. Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders. Jrnl of Inher Metab Disea 2019;42:918-33. [DOI: 10.1002/jimd.12142] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
39 Leshinsky-Silver E, Malinger G, Ben-Sira L, Kidron D, Cohen S, Inbar S, Bezaleli T, Levine A, Vinkler C, Lev D, Lerman-Sagie T. A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet 2011;19:287-92. [PMID: 21102625 DOI: 10.1038/ejhg.2010.213] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 2.3] [Reference Citation Analysis]
40 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]
41 Kirmse B, Hobbs CV, Peter I, Laplante B, Caggana M, Kloke K, Raymond K, Summar M, Borkowsky W. Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants. Pediatr Infect Dis J 2013;32:146-50. [PMID: 22935866 DOI: 10.1097/INF.0b013e31827030a6] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 1.3] [Reference Citation Analysis]
42 Smuts I, van der Westhuizen FH, Louw R, Mienie LJ, Engelke UFH, Wevers RA, Mason S, Koekemoer G, Reinecke CJ. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach. Metabolomics 2013;9:379-91. [DOI: 10.1007/s11306-012-0455-z] [Cited by in Crossref: 21] [Cited by in F6Publishing: 13] [Article Influence: 2.1] [Reference Citation Analysis]
43 Newell C, Hume S, Greenway SC, Podemski L, Shearer J, Khan A. Plasma-derived cell-free mitochondrial DNA: A novel non-invasive methodology to identify mitochondrial DNA haplogroups in humans. Molecular Genetics and Metabolism 2018;125:332-7. [DOI: 10.1016/j.ymgme.2018.10.002] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
44 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]
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46 Tang PH, Miles MV. Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method. In: Wong, Ph.d. LC, editor. Mitochondrial Disorders. Totowa: Humana Press; 2012. pp. 149-68. [DOI: 10.1007/978-1-61779-504-6_10] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
47 Germain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P. First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study. Int J Med Sci 2019;16:931-8. [PMID: 31341406 DOI: 10.7150/ijms.32413] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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49 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]
50 Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C. GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. PLoS One 2016;11:e0148709. [PMID: 26867126 DOI: 10.1371/journal.pone.0148709] [Cited by in Crossref: 76] [Cited by in F6Publishing: 76] [Article Influence: 12.7] [Reference Citation Analysis]
51 Naing A, Kenchaiah M, Krishnan B, Mir F, Charnley A, Egan C, Bano G. Maternally inherited diabetes and deafness (MIDD): diagnosis and management. J Diabetes Complications 2014;28:542-6. [PMID: 24746802 DOI: 10.1016/j.jdiacomp.2014.03.006] [Cited by in Crossref: 35] [Cited by in F6Publishing: 24] [Article Influence: 4.4] [Reference Citation Analysis]
52 Xu J, Potter M, Tomas C, Elson JL, Morten KJ, Poulton J, Wang N, Jin H, Hou Z, Huang WE. A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy. Analyst 2019;144:913-20. [DOI: 10.1039/c8an01437j] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
53 Manyevitch R, Protas M, Scarpiello S, Deliso M, Bass B, Nanajian A, Chang M, Thompson SM, Khoury N, Gonnella R, Trotz M, Moore DB, Harms E, Perry G, Clunes L, Ortiz A, Friedrich JO, Murray IVJ. Evaluation of Metabolic and Synaptic Dysfunction Hypotheses of Alzheimer's Disease (AD): A Meta-Analysis of CSF Markers. Curr Alzheimer Res 2018;15:164-81. [PMID: 28933272 DOI: 10.2174/1567205014666170921122458] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 8.7] [Reference Citation Analysis]
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55 Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep 2014;14:77-85. [PMID: 24515575 DOI: 10.1007/8904_2013_287] [Cited by in Crossref: 30] [Cited by in F6Publishing: 33] [Article Influence: 3.8] [Reference Citation Analysis]
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58 Frye RE, Melnyk S, Macfabe DF. Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. Transl Psychiatry. 2013;3:e220. [PMID: 23340503 DOI: 10.1038/tp.2012.143] [Cited by in Crossref: 123] [Cited by in F6Publishing: 126] [Article Influence: 13.7] [Reference Citation Analysis]
59 Nolin SL, Napoli E, Flores A, Hagerman RJ, Giulivi C. Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene. Int J Mol Sci 2021;22:5886. [PMID: 34070950 DOI: 10.3390/ijms22115886] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
60 Kovac S, Preza E, Houlden H, Walker MC, Abramov AY. Impaired Bioenergetics in Mutant Mitochondrial DNA Determines Cell Fate During Seizure-Like Activity. Mol Neurobiol 2019;56:321-34. [PMID: 29704197 DOI: 10.1007/s12035-018-1078-9] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
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