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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 4
1991 1
1995 1
1996 1
1997 1
1999 3
2000 2
2001 6
2003 6
2004 1
2005 13
2006 14
2007 32
2008 46
2009 51
2010 11
2011 11
2012 6
2013 7
2014 5
2015 8
2016 10
2017 11
2018 7
2019 6
2020 4
2022 3
2023 2
2024 0

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Similar articles for PMID: 19138848

244 results

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Page 1
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.
Fumagalli M, Ronchi D, Bedeschi MF, Manini A, Cristofori G, Mosca F, Dilena R, Sciacco M, Zanotti S, Piga D, Ardissino G, Triulzi F, Corti S, Comi GP, Salviati L. Fumagalli M, et al. Mol Genet Metab Rep. 2022 Jun 18;32:100887. doi: 10.1016/j.ymgmr.2022.100887. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756861 Free PMC article.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR. Shayota BJ, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e973. doi: 10.1002/mgg3.973. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568715 Free PMC article.
244 results