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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2016 | 1 |
2018 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 55278
4 results
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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.
Nat Commun. 2018.
PMID: 30283131
Free PMC article.
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM.
Kamps R, et al.
Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13.
Eur J Hum Genet. 2018.
PMID: 29440775
Free PMC article.
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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
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.
Kohda M, et al.
PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.
PLoS Genet. 2016.
PMID: 26741492
Free PMC article.
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Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
Nagao A, Suzuki T, Katoh T, Sakaguchi Y, Suzuki T.
Nagao A, et al.
Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16209-14. doi: 10.1073/pnas.0907602106. Epub 2009 Sep 9.
Proc Natl Acad Sci U S A. 2009.
PMID: 19805282
Free PMC article.
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