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For: Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet 2015;96:245-57. [PMID: 25597510 DOI: 10.1016/j.ajhg.2014.12.013] [Cited by in Crossref: 67] [Cited by in F6Publishing: 53] [Article Influence: 9.6] [Reference Citation Analysis]
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9 Spaulding Z, Thevarajan I, Schrag LG, Zubcevic L, Zolkiewska A, Zolkiewski M. Human mitochondrial AAA+ ATPase SKD3/CLPB assembles into nucleotide-stabilized dodecamers. Biochem Biophys Res Commun 2022;602:21-6. [PMID: 35247700 DOI: 10.1016/j.bbrc.2022.02.101] [Reference Citation Analysis]
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15 Jadiya P, Tomar D. Mitochondrial Protein Quality Control Mechanisms. Genes (Basel) 2020;11:E563. [PMID: 32443488 DOI: 10.3390/genes11050563] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
16 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]
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20 Rivalta B, Torraco A, Martinelli D, Luciani M, Carrozzo R, Finocchi A. Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria. Pediatric Allergy Immunology 2022;33. [DOI: 10.1111/pai.13782] [Reference Citation Analysis]
21 Tsai IC, McKnight K, McKinstry SU, Maynard AT, Tan PL, Golzio C, White CT, Price DJ, Davis EE, Amrine-Madsen H, Katsanis N. Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. Sci Rep 2018;8:10779. [PMID: 30018450 DOI: 10.1038/s41598-018-28709-y] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 4.8] [Reference Citation Analysis]
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23 Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F. The many faces of paediatric mitochondrial disease on neuroimaging. Childs Nerv Syst 2016;32:2077-83. [PMID: 27449766 DOI: 10.1007/s00381-016-3190-3] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
24 Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nat Genet 2018;50:120-9. [PMID: 29255262 DOI: 10.1038/s41588-017-0006-7] [Cited by in Crossref: 44] [Cited by in F6Publishing: 40] [Article Influence: 8.8] [Reference Citation Analysis]
25 Donadieu J, Frenz S, Merz L, Sicre De Fontbrune F, Rotulo GA, Beaupain B, Biosse-Duplan M, Audrain M, Croisille L, Ancliff P, Klein C, Bellanné-Chantelot C. Chronic neutropenia: how best to assess severity and approach management? Expert Rev Hematol 2021;14:945-60. [PMID: 34486458 DOI: 10.1080/17474086.2021.1976634] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 da Rosa-junior NT, Parmeggiani B, da Rosa MS, Glänzel NM, de Moura Alvorcem L, Wajner M, Leipnitz G. Bezafibrate In Vivo Administration Prevents 3-Methylglutaric Acid-Induced Impairment of Redox Status, Mitochondrial Biogenesis, and Neural Injury in Brain of Developing Rats. Neurotox Res 2019;35:809-22. [DOI: 10.1007/s12640-019-00019-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
27 Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet 2017;100:666-75. [PMID: 28318500 DOI: 10.1016/j.ajhg.2017.02.007] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
28 Thevarajan I, Zolkiewski M, Zolkiewska A. Human CLPB forms ATP-dependent complexes in the mitochondrial intermembrane space. Int J Biochem Cell Biol 2020;127:105841. [PMID: 32866687 DOI: 10.1016/j.biocel.2020.105841] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
29 Jones DE, Klacking E, Ryan RO. Inborn errors of metabolism associated with 3-methylglutaconic aciduria. Clin Chim Acta 2021;522:96-104. [PMID: 34411555 DOI: 10.1016/j.cca.2021.08.016] [Reference Citation Analysis]
30 Edkins AL, Boshoff A. General Structural and Functional Features of Molecular Chaperones. Adv Exp Med Biol 2021;1340:11-73. [PMID: 34569020 DOI: 10.1007/978-3-030-78397-6_2] [Reference Citation Analysis]
31 Macheroux EP, Braunisch MC, Pucci Pegler S, Satanovskij R, Riedhammer KM, Günthner R, Gross O, Nagel M, Renders L, Hoefele J. The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome. Front Pediatr 2019;7:485. [PMID: 31850286 DOI: 10.3389/fped.2019.00485] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
32 Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med 2017;9:43. [PMID: 28554332 DOI: 10.1186/s13073-017-0433-1] [Cited by in Crossref: 99] [Cited by in F6Publishing: 88] [Article Influence: 19.8] [Reference Citation Analysis]
33 Walkovich K, Connelly JA. Congenital Neutropenia and Rare Functional Phagocyte Disorders in Children. Hematol Oncol Clin North Am 2019;33:533-51. [PMID: 31030818 DOI: 10.1016/j.hoc.2019.01.004] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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35 Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis 2017;40:861-6. [PMID: 28865037 DOI: 10.1007/s10545-017-0084-9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
36 Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. Genet Med 2020;22:1589-97. [PMID: 32820246 DOI: 10.1038/s41436-020-0933-z] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 3.5] [Reference Citation Analysis]
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39 Abrahão J, Mokry DZ, Ramos CHI. Hsp78 (78 kDa Heat Shock Protein), a Representative AAA Family Member Found in the Mitochondrial Matrix of Saccharomyces cerevisiae. Front Mol Biosci 2017;4:60. [PMID: 28879184 DOI: 10.3389/fmolb.2017.00060] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
40 Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. 3-Methylglutaconic aciduria in carriers of primary carnitine deficiency. Eur J Med Genet 2021;64:104365. [PMID: 34637945 DOI: 10.1016/j.ejmg.2021.104365] [Reference Citation Analysis]
41 Pronicka E, Ropacka-Lesiak M, Trubicka J, Pajdowska M, Linke M, Ostergaard E, Saunders C, Horsch S, van Karnebeek C, Yaplito-Lee J, Distelmaier F, Õunap K, Rahman S, Castelle M, Kelleher J, Baris S, Iwanicka-Pronicka K, Steward CG, Ciara E, Wortmann SB; Additional individual contributors. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J Inherit Metab Dis 2017;40:853-60. [PMID: 28687938 DOI: 10.1007/s10545-017-0057-z] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
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44 Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet Med 2021. [PMID: 34140661 DOI: 10.1038/s41436-021-01194-x] [Reference Citation Analysis]
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48 Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A 2018;176:1115-27. [PMID: 29575569 DOI: 10.1002/ajmg.a.38658] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 4.8] [Reference Citation Analysis]
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50 Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Hum Mutat. 2019;40:1985-1992. [PMID: 31209944 DOI: 10.1002/humu.23844] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
51 McNulty SN, Evenson MJ, Riley M, Yoest JM, Corliss MM, Heusel JW, Duncavage EJ, Pfeifer JD. A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease. J Mol Diagn 2021;23:200-11. [PMID: 33217554 DOI: 10.1016/j.jmoldx.2020.10.014] [Reference Citation Analysis]
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