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

Year Number of Results
1998 1
1999 2
2000 2
2002 2
2003 2
2004 1
2006 2
2007 2
2008 10
2009 11
2010 13
2011 9
2012 13
2013 11
2014 10
2015 3
2016 4
2017 2
2018 1
2019 2
2021 1
2022 2
2024 0

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95 results

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Page 1
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.
Visual memory failure presages conversion to MELAS phenotype.
Leaffer EB, De Vivo DC, Engelstad K, Fryer RH, Gu Y, Shungu DC, Hirano M, DiMauro S, Hinton VJ. Leaffer EB, et al. Ann Clin Transl Neurol. 2022 Jun;9(6):841-852. doi: 10.1002/acn3.51564. Epub 2022 May 6. Ann Clin Transl Neurol. 2022. PMID: 35522125 Free PMC article.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease.
Pera M, Larrea D, Guardia-Laguarta C, Montesinos J, Velasco KR, Agrawal RR, Xu Y, Chan RB, Di Paolo G, Mehler MF, Perumal GS, Macaluso FP, Freyberg ZZ, Acin-Perez R, Enriquez JA, Schon EA, Area-Gomez E. Pera M, et al. EMBO J. 2017 Nov 15;36(22):3356-3371. doi: 10.15252/embj.201796797. Epub 2017 Oct 10. EMBO J. 2017. PMID: 29018038 Free PMC article.
95 results