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For: Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet 2016;12:e1005679. [PMID: 26741492 DOI: 10.1371/journal.pgen.1005679] [Cited by in Crossref: 152] [Cited by in F6Publishing: 135] [Article Influence: 25.3] [Reference Citation Analysis]
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6 Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 2021:S0167-5273(21)01080-9. [PMID: 34298071 DOI: 10.1016/j.ijcard.2021.06.042] [Reference Citation Analysis]
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10 Wang J, Li H, Sun M, Yang Y, Yang Q, Liu B, Liu F, Hu W, Zhang Y. Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene. Front Pediatr 2020;8:583047. [PMID: 33344382 DOI: 10.3389/fped.2020.583047] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
11 Zou Y, Yang Y, Fu X, He X, Liu M, Zong T, Li X, Htet Aung L, Wang Z, Yu T. The regulatory roles of aminoacyl-tRNA synthetase in cardiovascular disease. Mol Ther Nucleic Acids 2021;25:372-87. [PMID: 34484863 DOI: 10.1016/j.omtn.2021.06.003] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y. Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. International Journal of Cardiology 2016;207:203-5. [DOI: 10.1016/j.ijcard.2016.01.026] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 3.0] [Reference Citation Analysis]
13 Nishioka M, Inaba Y, Motobayashi M, Hara Y, Numata R, Amano Y, Shingu K, Yamamoto Y, Murayama K, Ohtake A, Nakazawa Y. An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation. Brain Dev 2018;40:484-8. [PMID: 29501406 DOI: 10.1016/j.braindev.2018.02.004] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
14 Fuwa K, Kubota M, Kanno M, Miyabayashi H, Kawabata K, Kanno K, Shimizu M. Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis. Case Rep Pediatr 2016;2016:3932646. [PMID: 27752381 DOI: 10.1155/2016/3932646] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
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16 Oviya RP, Gopal G, Shirley SS, Sridevi V, Jayavelu S, Rajkumar T. Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes. Gene 2021;790:145697. [PMID: 33964376 DOI: 10.1016/j.gene.2021.145697] [Reference Citation Analysis]
17 Dang QL, Phan DH, Johnson AN, Pasapuleti M, Alkhaldi HA, Zhang F, Vik SB. Analysis of Human Mutations in the Supernumerary Subunits of Complex I. Life (Basel) 2020;10:E296. [PMID: 33233646 DOI: 10.3390/life10110296] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 Saito T, Uchiumi T, Yagi M, Amamoto R, Setoyama D, Matsushima Y, Kang D. Cardiomyocyte-specific loss of mitochondrial p32/C1qbp causes cardiomyopathy and activates stress responses. Cardiovasc Res 2017;113:1173-85. [PMID: 28498888 DOI: 10.1093/cvr/cvx095] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 4.8] [Reference Citation Analysis]
19 Hu C, Li X, Zhao L, Shi Y, Zhou S, Wu B, Wang Y. Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. Eur J Med Genet 2020;63:103898. [PMID: 32348839 DOI: 10.1016/j.ejmg.2020.103898] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
20 Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 2017;101:525-38. [PMID: 28942965 DOI: 10.1016/j.ajhg.2017.08.015] [Cited by in Crossref: 46] [Cited by in F6Publishing: 36] [Article Influence: 9.2] [Reference Citation Analysis]
21 Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Sci Rep 2019;9:10549. [PMID: 31332208 DOI: 10.1038/s41598-019-46772-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
22 Asano K, Suzuki T, Saito A, Wei FY, Ikeuchi Y, Numata T, Tanaka R, Yamane Y, Yamamoto T, Goto T, Kishita Y, Murayama K, Ohtake A, Okazaki Y, Tomizawa K, Sakaguchi Y, Suzuki T. Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease. Nucleic Acids Res 2018;46:1565-83. [PMID: 29390138 DOI: 10.1093/nar/gky068] [Cited by in Crossref: 57] [Cited by in F6Publishing: 45] [Article Influence: 19.0] [Reference Citation Analysis]
23 Alsharhan H, Muraresku C, Ganetzky RD. COXPD9 in an individual from Puerto Rico and literature review. Am J Med Genet A 2021;185:2519-25. [PMID: 34008913 DOI: 10.1002/ajmg.a.62344] [Reference Citation Analysis]
24 Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. J Hum Genet 2016;61:959-63. [PMID: 27357426 DOI: 10.1038/jhg.2016.85] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.7] [Reference Citation Analysis]
25 Barbosa-Gouveia S, González-Vioque E, Hermida Á, Suarez MU, Martínez-González MJ, Borges F, Wintjes L, Kappen A, Rodenburg R, Couce ML. Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. Genes (Basel) 2020;11:E1028. [PMID: 32887222 DOI: 10.3390/genes11091028] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
26 Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis. J Inherit Metab Dis 2020;43:819-26. [PMID: 31967322 DOI: 10.1002/jimd.12218] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
27 Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med 2016;14:174. [PMID: 27290639 DOI: 10.1186/s12967-016-0930-9] [Cited by in Crossref: 108] [Cited by in F6Publishing: 103] [Article Influence: 18.0] [Reference Citation Analysis]
28 Liu C, Zhou W, Liu Q, Peng Z. Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report. BMC Endocr Disord 2022;22:15. [PMID: 34991560 DOI: 10.1186/s12902-021-00924-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
29 Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B; Childhood Basal Ganglia Disease Group. Genetic diagnosis of basal ganglia disease in childhood. Dev Med Child Neurol 2022. [PMID: 34988976 DOI: 10.1111/dmcn.15125] [Reference Citation Analysis]
30 Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ 2021;375:e066288. [PMID: 34732400 DOI: 10.1136/bmj-2021-066288] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
31 Hock DH, Robinson DRL, Stroud DA. Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome. Biochem J 2020;477:4085-132. [PMID: 33151299 DOI: 10.1042/BCJ20190767] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
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33 Stenton SL, Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine 2020;56:102784. [PMID: 32454403 DOI: 10.1016/j.ebiom.2020.102784] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 18.5] [Reference Citation Analysis]
34 Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis 2020;43:36-50. [PMID: 31021000 DOI: 10.1002/jimd.12104] [Cited by in Crossref: 53] [Cited by in F6Publishing: 49] [Article Influence: 17.7] [Reference Citation Analysis]
35 Webb BD, Diaz GA, Prasun P. Mitochondrial translation defects and human disease. J Transl Genet Genom 2020;4:71-80. [PMID: 33426504 DOI: 10.20517/jtgg.2020.11] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
36 Frazier AE, Thorburn DR, Compton AG. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology. J Biol Chem 2019;294:5386-95. [PMID: 29233888 DOI: 10.1074/jbc.R117.809194] [Cited by in Crossref: 102] [Cited by in F6Publishing: 61] [Article Influence: 20.4] [Reference Citation Analysis]
37 Hannah-Shmouni F, Stratakis CA. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency. Rev Endocr Metab Disord 2018;19:53-67. [PMID: 29956047 DOI: 10.1007/s11154-018-9447-2] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 3.3] [Reference Citation Analysis]
38 Fukunaga H. Mitochondrial DNA Copy Number and Developmental Origins of Health and Disease (DOHaD). Int J Mol Sci 2021;22:6634. [PMID: 34205712 DOI: 10.3390/ijms22126634] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
39 Shimizu K, Oba D, Nambu R, Tanaka M, Oguma E, Murayama K, Ohtake A, Yoshiura KI, Ohashi H. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Mol Genet Genomic Med 2020;8:e1129. [PMID: 31953925 DOI: 10.1002/mgg3.1129] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
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41 Le Grand Q, Satizabal CL, Sargurupremraj M, Mishra A, Soumaré A, Laurent A, Crivello F, Tsuchida A, Shin J, Macalli M, Singh B, Beiser AS, DeCarli C, Fletcher E, Paus T, Lathrop M, Adams HHH, Bis JC, Seshadri S, Tzourio C, Mazoyer B, Debette S. Genomic studies across the lifespan point to early mechanisms determining subcortical volumes. Biol Psychiatry Cogn Neurosci Neuroimaging 2021:S2451-9022(21)00286-X. [PMID: 34700051 DOI: 10.1016/j.bpsc.2021.10.011] [Reference Citation Analysis]
42 Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. Sci Rep 2021;11:11123. [PMID: 34045482 DOI: 10.1038/s41598-021-90196-5] [Reference Citation Analysis]
43 Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Arch Dis Child Fetal Neonatal Ed 2021:fetalneonatal-2021-321633. [PMID: 34625524 DOI: 10.1136/archdischild-2021-321633] [Reference Citation Analysis]
44 Baide-mairena H, Gaudó P, Marti-sánchez L, Emperador S, Sánchez-montanez A, Alonso-luengo O, Correa M, Grau AM, Ortigoza-escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-pérez N, Ruiz-pesini E, Montoya J, Bayona-bafaluy MP, Pérez-dueñas B. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. Molecular Genetics and Metabolism 2019;126:250-8. [DOI: 10.1016/j.ymgme.2019.01.001] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
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46 Bugiardini E, Mitchell AL, Rosa ID, Horning-do H, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics 2019;28:2711-9. [DOI: 10.1093/hmg/ddz093] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 4.7] [Reference Citation Analysis]
47 Tsang MHY, Kwong AKY, Chan KLS, Fung JLF, Yu MHC, Mak CCY, Yeung KS, Rodenburg RJT, Smeitink JAM, Chan R, Tsoi T, Hui J, Wong SSN, Tai SM, Chan VCM, Ma CK, Fung STH, Wu SP, Chak WK, Chung BHY, Fung CW. Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Hum Genomics 2020;14:28. [PMID: 32907636 DOI: 10.1186/s40246-020-00278-0] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
48 Oliveira R, Sommerville EW, Thompson K, Nunes J, Pyle A, Grazina M, Chinnery PF, Diogo L, Garcia P, Taylor RW. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. JIMD Rep 2017;33:61-8. [PMID: 27571996 DOI: 10.1007/8904_2016_581] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 3.7] [Reference Citation Analysis]
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51 Uittenbogaard M, Sen K, Whitehead M, Brantner CA, Wang Y, Wong LJ, Gropman A, Chiaramello A. Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome. Front Cell Dev Biol 2021;9:767407. [PMID: 35004675 DOI: 10.3389/fcell.2021.767407] [Reference Citation Analysis]
52 Reinson K, Kovacs-nagy R, Õiglane-shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FC, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. European Journal of Medical Genetics 2019;62:103572. [DOI: 10.1016/j.ejmg.2018.11.006] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
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