BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-8. [PMID: 2243133 DOI: 10.1172/JCI114881] [Cited by in Crossref: 324] [Cited by in F6Publishing: 64] [Article Influence: 10.1] [Reference Citation Analysis]
Number Citing Articles
1 Wild KT, Goldstein AC, Muraresku C, Ganetzky RD. Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature. Am J Med Genet A 2020;182:365-73. [PMID: 31825167 DOI: 10.1002/ajmg.a.61433] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
2 Essex DW, Jin DK, Bradley TP. Lactic acidosis secondary to severe anemia in a patient with paroxysmal nocturnal hemoglobinuria. Am J Hematol 1997;55:110-1. [PMID: 9209007 DOI: 10.1002/(sici)1096-8652(199706)55:2<110::aid-ajh10>3.0.co;2-i] [Cited by in Crossref: 1] [Article Influence: 0.0] [Reference Citation Analysis]
3 Broom AJ, Ambroso J, Brunori G, Burns AK, Armitage JR, Francis I, Gandhi M, Peterson RA, Gant TW, Boobis AR, Lyon JJ. Effects of mid-respiratory chain inhibition on mitochondrial function in vitro and in vivo. Toxicol Res (Camb) 2016;5:136-50. [PMID: 29780577 DOI: 10.1039/c5tx00197h] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
4 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]
5 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]
6 Chabrol B, Mancini J, Chretien D, Rustin P, Munnich A, Pinsard N. Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency. Eur J Pediatr 1994;153:133-5. [PMID: 8157021 DOI: 10.1007/BF01959226] [Cited by in Crossref: 1] [Cited by in F6Publishing: 5] [Article Influence: 0.0] [Reference Citation Analysis]
7 Tatar A, Tasdemir S, Sahin I, Bozoglu C, Erdem HB, Yoruk O, Tatar A. Mitochondrial DNA deletions in patients with chronic suppurative otitis media. Eur Arch Otorhinolaryngol 2016;273:2473-9. [PMID: 26620342 DOI: 10.1007/s00405-015-3839-7] [Reference Citation Analysis]
8 Beziat F, Morel F, Volz-Lingenhol A, Saint Paul N, Alziari S. Mitochondrial genome expression in a mutant strain of D. subobscura, an animal model for large scale mtDNA deletion. Nucleic Acids Res 1993;21:387-92. [PMID: 8441651 DOI: 10.1093/nar/21.3.387] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 0.7] [Reference Citation Analysis]
9 Yoshimi A, Abdel-Wahab O. Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. Int J Hematol 2017;105:720-31. [PMID: 28466384 DOI: 10.1007/s12185-017-2242-0] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
10 White AJ. Mitochondrial toxicity and HIV therapy. Sex Transm Infect. 2001;77:158-173. [PMID: 11402222 DOI: 10.1136/sti.77.3.158] [Cited by in Crossref: 133] [Cited by in F6Publishing: 121] [Article Influence: 6.3] [Reference Citation Analysis]
11 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]
12 Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G, Zacchello F. Acute pancreatitis in propionic acidaemia. J Inherit Metab Dis 1995;18:169-72. [PMID: 7564238 DOI: 10.1007/BF00711758] [Cited by in Crossref: 21] [Cited by in F6Publishing: 8] [Article Influence: 0.8] [Reference Citation Analysis]
13 Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY. Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing. CNS Neurosci Ther 2019;25:21-9. [PMID: 29756269 DOI: 10.1111/cns.12972] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.5] [Reference Citation Analysis]
14 Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995;9:407-11. [PMID: 7577396 DOI: 10.1007/BF00866711] [Cited by in Crossref: 42] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
15 Dror Y, Sung L. Update on childhood neutropenia: molecular and clinical advances. Hematology/Oncology Clinics of North America 2004;18:1439-58. [DOI: 10.1016/j.hoc.2004.06.013] [Cited by in Crossref: 5] [Article Influence: 0.3] [Reference Citation Analysis]
16 Jennifer MS, Cortez D. Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation. Ann Noninvasive Electrocardiol 2020;25:e12681. [PMID: 31475425 DOI: 10.1111/anec.12681] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
17 Morikawa Y, Matsuura N, Kakudo K, Higuchi R, Koike M, Kobayashi Y. Pearson's marrow/pancreas syndrome: a histological and genetic study. Virchows Arch A Pathol Anat Histopathol 1993;423:227-31. [PMID: 8236818 DOI: 10.1007/BF01614775] [Cited by in Crossref: 25] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
18 Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A 1991;88:10614-8. [PMID: 1720544 DOI: 10.1073/pnas.88.23.10614] [Cited by in Crossref: 374] [Cited by in F6Publishing: 370] [Article Influence: 12.5] [Reference Citation Analysis]
19 Kauppila JHK, Baines HL, Bratic A, Simard ML, Freyer C, Mourier A, Stamp C, Filograna R, Larsson NG, Greaves LC, Stewart JB. A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease. Cell Rep 2016;16:2980-90. [PMID: 27626666 DOI: 10.1016/j.celrep.2016.08.037] [Cited by in Crossref: 64] [Cited by in F6Publishing: 56] [Article Influence: 12.8] [Reference Citation Analysis]
20 Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rötig A. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 1994;8:164-8. [PMID: 8018492 DOI: 10.1007/BF00865468] [Cited by in Crossref: 58] [Cited by in F6Publishing: 11] [Article Influence: 2.1] [Reference Citation Analysis]
21 Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ. Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. J Inherit Metab Dis 2004;27:47-55. [PMID: 14970745 DOI: 10.1023/B:BOLI.0000016601.49372.18] [Cited by in Crossref: 19] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
22 Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood 2014;124:437-40. [PMID: 24735966 DOI: 10.1182/blood-2014-01-545830] [Cited by in Crossref: 25] [Cited by in F6Publishing: 18] [Article Influence: 3.1] [Reference Citation Analysis]
23 Belcour L, Begel O, Picard M. A site-specific deletion in mitochondrial DNA of Podospora is under the control of nuclear genes. Proc Natl Acad Sci U S A 1991;88:3579-83. [PMID: 2023905 DOI: 10.1073/pnas.88.9.3579] [Cited by in Crossref: 49] [Cited by in F6Publishing: 43] [Article Influence: 1.6] [Reference Citation Analysis]
24 Liu R, Mo GL, Song YZ. Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report. Transl Pediatr 2021;10:204-8. [PMID: 33633954 DOI: 10.21037/tp-20-138] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
25 Hsieh P, Camerini-Otero CS, Camerini-Otero RD. The synapsis event in the homologous pairing of DNAs: RecA recognizes and pairs less than one helical repeat of DNA. Proc Natl Acad Sci U S A 1992;89:6492-6. [PMID: 1631148 DOI: 10.1073/pnas.89.14.6492] [Cited by in Crossref: 129] [Cited by in F6Publishing: 127] [Article Influence: 4.3] [Reference Citation Analysis]
26 Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Mol Genet Metab 2021:S1096-7192(21)01191-4. [PMID: 34969639 DOI: 10.1016/j.ymgme.2021.12.006] [Reference Citation Analysis]
27 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? J Clin Invest 1993;92:2906-15. [PMID: 8254046 DOI: 10.1172/JCI116913] [Cited by in Crossref: 141] [Cited by in F6Publishing: 33] [Article Influence: 5.0] [Reference Citation Analysis]
28 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]
29 Poulton J, Brown GK. Investigation of mitochondrial disease. Arch Dis Child 1995;73:94-7. [PMID: 7574881 DOI: 10.1136/adc.73.2.94-a] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.1] [Reference Citation Analysis]
30 Parvaneh N, Quartier P, Rostami P, Casanova JL, de Lonlay P. Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol 2014;34:753-71. [PMID: 25081841 DOI: 10.1007/s10875-014-0076-6] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
31 Sabella-Jiménez V, Otero-Herrera C, Silvera-Redondo C, Garavito-Galofre P. Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia. Mol Genet Genomic Med 2020;8:e1509. [PMID: 33030289 DOI: 10.1002/mgg3.1509] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
32 Fraser JA, Biousse V, Newman NJ. The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol 2010;55:299-334. [PMID: 20471050 DOI: 10.1016/j.survophthal.2009.10.002] [Cited by in Crossref: 147] [Cited by in F6Publishing: 122] [Article Influence: 12.3] [Reference Citation Analysis]
33 An W, Zhang J, Chang L, Zhang Y, Wan Y, Ren Y, Niu D, Wu J, Zhu X, Guo Y. Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. J Hematol Oncol 2015;8:55. [PMID: 25985931 DOI: 10.1186/s13045-015-0154-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
34 Alemi M, Prigione A, Wong A, Schoenfeld R, DiMauro S, Hirano M, Taroni F, Cortopassi G. Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med 2007;42:32-43. [PMID: 17157191 DOI: 10.1016/j.freeradbiomed.2006.09.014] [Cited by in Crossref: 33] [Cited by in F6Publishing: 33] [Article Influence: 2.1] [Reference Citation Analysis]
35 Khasawneh R, Alsokhni H, Alzghoul B, Momani A, Abualsheikh N, Kamal N, Qatawneh M. A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome. Med Arch 2018;72:148-50. [PMID: 29736106 DOI: 10.5455/medarh.2018.72.148-150] [Reference Citation Analysis]
36 Ribes A, Riudor E, Valcárel R, Salvá A, Castelló F, Murillo S, Dominguez C, Rötig A, Jakobs C. Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. J Inherit Metab Dis 1993;16:537-40. [PMID: 7609446 DOI: 10.1007/BF00711675] [Cited by in Crossref: 25] [Cited by in F6Publishing: 6] [Article Influence: 0.9] [Reference Citation Analysis]
37 Kreuder J, Repp R, Borkhardt A, Lampert F. Rapid detection of mitochondrial deletions by long-distance polymerase chain reaction. Eur J Pediatr 1995;154:996. [PMID: 8801111 DOI: 10.1007/BF01958647] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
38 Rajasimha HK, Chinnery PF, Samuels DC. Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. Am J Hum Genet 2008;82:333-43. [PMID: 18252214 DOI: 10.1016/j.ajhg.2007.10.007] [Cited by in Crossref: 72] [Cited by in F6Publishing: 67] [Article Influence: 5.1] [Reference Citation Analysis]
39 Pecina P, Houšťková H, Mráček T, Pecinová A, Nůsková H, Tesařová M, Hansíková H, Janota J, Zeman J, Houštěk J. Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry. BBA Clin 2014;2:62-71. [PMID: 26675066 DOI: 10.1016/j.bbacli.2014.09.003] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.4] [Reference Citation Analysis]
40 Walkley CR, Sankaran VG, Orkin SH. Rb and hematopoiesis: stem cells to anemia. Cell Div 2008;3:13. [PMID: 18775080 DOI: 10.1186/1747-1028-3-13] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 0.9] [Reference Citation Analysis]
41 Pereira CV, Moraes CT. Current strategies towards therapeutic manipulation of mtDNA heteroplasmy. Front Biosci (Landmark Ed) 2017;22:991-1010. [PMID: 27814659 DOI: 10.2741/4529] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
42 Phillips RJ, Crock CM, Dillon MJ, Clayton PT, Curran A, Harper JI. Cystic fibrosis presenting as kwashiorkor with florid skin rash. Arch Dis Child 1993;69:446-8. [PMID: 8259877 DOI: 10.1136/adc.69.4.446] [Cited by in Crossref: 31] [Cited by in F6Publishing: 21] [Article Influence: 1.1] [Reference Citation Analysis]
43 Smith OP, Hann IM. Systemic vasculitis complicating infantile autoimmune enteropathy. Arch Dis Child 1995;72:467. [PMID: 7618925 DOI: 10.1136/adc.72.5.467] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
44 Harding AE. The other genome. BMJ 1991;303:377-9. [PMID: 1912801 DOI: 10.1136/bmj.303.6799.377] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.2] [Reference Citation Analysis]
45 Molleston JP, Sokol RJ, Karnsakul W, Miethke A, Horslen S, Magee JC, Romero R, Squires RH, Van Hove JL. Evaluation of the child with suspected mitochondrial liver disease. J Pediatr Gastroenterol Nutr. 2013;57:269-276. [PMID: 23783016 DOI: 10.1097/mpg.0b013e31829ef67a] [Cited by in Crossref: 29] [Cited by in F6Publishing: 8] [Article Influence: 3.6] [Reference Citation Analysis]
46 O'Grady MJ, Monavari AA, Cotter M, Murphy NP. Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion. BMJ Case Rep 2015;2015:bcr2014208514. [PMID: 25721834 DOI: 10.1136/bcr-2014-208514] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
47 Kishnani PS, Van Hove JL, Shoffner JS, Kaufman A, Bossen EH, Kahler SG. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene. Eur J Pediatr 1996;155:898-903. [PMID: 8891562 DOI: 10.1007/BF02282842] [Cited by in Crossref: 24] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
48 Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy. Biochem Biophys Res Commun 2011;415:300-4. [PMID: 22027147 DOI: 10.1016/j.bbrc.2011.10.049] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
49 Au KM, Lau SC, Mak YF, Lai WM, Chow TC, Chen ML, Chiu MC, Chan AY. Mitochondrial DNA deletion in a girl with Fanconi's syndrome. Pediatr Nephrol 2007;22:136-40. [PMID: 16967281 DOI: 10.1007/s00467-006-0288-y] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 1.2] [Reference Citation Analysis]
50 Chen ML, Logan TD, Hochberg ML, Shelat SG, Yu X, Wilding GE, Tan W, Kujoth GC, Prolla TA, Selak MA. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood. 2009;114:4045-4053. [PMID: 19734452 DOI: 10.1182/blood-2008-08-169474] [Cited by in Crossref: 71] [Cited by in F6Publishing: 73] [Article Influence: 5.5] [Reference Citation Analysis]
51 Gayathri N, Deepha S, Sharma S. Diagnosis of primary mitochondrial disorders -Emphasis on myopathological aspects. Mitochondrion 2021;61:69-84. [PMID: 34592422 DOI: 10.1016/j.mito.2021.09.007] [Reference Citation Analysis]
52 Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol 2017;13:92-104. [PMID: 27716753 DOI: 10.1038/nrendo.2016.151] [Cited by in Crossref: 86] [Cited by in F6Publishing: 71] [Article Influence: 14.3] [Reference Citation Analysis]
53 Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 1993;91:1095-8. [PMID: 8383698 DOI: 10.1172/JCI116267] [Cited by in Crossref: 117] [Cited by in F6Publishing: 19] [Article Influence: 4.0] [Reference Citation Analysis]
54 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]
55 Niaudet P, Rötig A. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 1996;10:368-73. [PMID: 8792408 DOI: 10.1007/BF00866789] [Cited by in Crossref: 40] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
56 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]
57 Martin FM, Prchal J, Nieva J, Saven A, Andrey J, Bethel K, Barton JC, Aripally G, Bottomley SS, Friedman JS. Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemia. Br J Haematol 2008;143:446-50. [PMID: 18729851 DOI: 10.1111/j.1365-2141.2008.07358.x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.2] [Reference Citation Analysis]
58 Berhe S, Heeney MM, Campagna DR, Thompson JF, White EJ, Ross T, Peake RWA, Hanrahan JD, Rodriguez V, Renaud DL, Patnaik MS, Chang E, Bottomley SS, Fleming MD. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica 2018;103:e561-3. [PMID: 30006447 DOI: 10.3324/haematol.2018.199109] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
59 Poggi-Travert F, Martin D, Billette de Villemeur T, Bonnefont JP, Vassault A, Rabier D, Charpentier C, Kamoun P, Munnich A, Saudubray JM. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation. J Inherit Metab Dis 1996;19:478-88. [PMID: 8884572 DOI: 10.1007/BF01799109] [Cited by in Crossref: 34] [Cited by in F6Publishing: 3] [Article Influence: 1.4] [Reference Citation Analysis]
60 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]
61 Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005;6:389-402. [PMID: 15861210 DOI: 10.1038/nrg1606] [Cited by in Crossref: 1089] [Cited by in F6Publishing: 994] [Article Influence: 64.1] [Reference Citation Analysis]
62 Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 2010;54:273-8. [PMID: 19731322 DOI: 10.1002/pbc.22244] [Cited by in Crossref: 65] [Cited by in F6Publishing: 72] [Article Influence: 5.4] [Reference Citation Analysis]
63 Sankaran VG, Orkin SH, Walkley CR. Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes Dev 2008;22:463-75. [PMID: 18258751 DOI: 10.1101/gad.1627208] [Cited by in Crossref: 89] [Cited by in F6Publishing: 100] [Article Influence: 6.4] [Reference Citation Analysis]
64 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. Am J Hum Genet 2002;71:679-83. [PMID: 12152148 DOI: 10.1086/342482] [Cited by in Crossref: 56] [Cited by in F6Publishing: 47] [Article Influence: 2.8] [Reference Citation Analysis]
65 Tokuyama T, Ahmed RE, Chanthra N, Anzai T, Uosaki H. Disease Modeling of Mitochondrial Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells. Biology (Basel) 2021;10:981. [PMID: 34681080 DOI: 10.3390/biology10100981] [Reference Citation Analysis]
66 Zhou X, Johansson M, Solaroli N, Rozell B, Grandien A, Karlsson A. Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. J Inherit Metab Dis 2010;33:231-6. [PMID: 20440651 DOI: 10.1007/s10545-010-9102-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
67 McCormick EM, Muraresku CC, Falk MJ. Mitochondrial Genomics: A complex field now coming of age. Curr Genet Med Rep 2018;6:52-61. [PMID: 30386685 DOI: 10.1007/s40142-018-0137-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
68 Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet 2021:jmedgenet-2021-108006. [PMID: 34872991 DOI: 10.1136/jmedgenet-2021-108006] [Reference Citation Analysis]
69 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]
70 Chirnomas SD, Kupfer GM. The inherited bone marrow failure syndromes. Pediatr Clin North Am 2013;60:1291-310. [PMID: 24237972 DOI: 10.1016/j.pcl.2013.09.007] [Cited by in Crossref: 30] [Cited by in F6Publishing: 22] [Article Influence: 3.8] [Reference Citation Analysis]
71 Al-Jasmi F, Pramathan T, Swid A, Sahari B, Penefsky HS, Souid AK. Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich Culture. Sultan Qaboos Univ Med J 2013;13:411-6. [PMID: 23984027 DOI: 10.12816/0003264] [Cited by in F6Publishing: 1] [Reference Citation Analysis]