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

Year Number of Results
2002 10
2003 8
2004 5
2005 2
2006 4
2007 10
2008 7
2009 8
2010 10
2011 9
2012 10
2013 9
2014 8
2015 5
2016 9
2017 10
2018 12
2019 8
2020 12
2021 13
2022 7
2023 6
2024 4

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161 results

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Page 1
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rötig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ. Dhir A, et al. Among authors: rotig a. Nature. 2018 Aug;560(7717):238-242. doi: 10.1038/s41586-018-0363-0. Epub 2018 Jul 25. Nature. 2018. PMID: 30046113 Free PMC article.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: rotig a. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Mouse models for mitochondrial diseases.
Ruzzenente B, Rötig A, Metodiev MD. Ruzzenente B, et al. Among authors: rotig a. Hum Mol Genet. 2016 Oct 1;25(R2):R115-R122. doi: 10.1093/hmg/ddw176. Epub 2016 Jun 21. Hum Mol Genet. 2016. PMID: 27329762 Review.
Respiratory chain deficiencies.
Delonlay P, Rötig A, Sarnat HB. Delonlay P, et al. Among authors: rotig a. Handb Clin Neurol. 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. Handb Clin Neurol. 2013. PMID: 23622386 Review.
Cytochrome oxidase in health and disease.
Barrientos A, Barros MH, Valnot I, Rötig A, Rustin P, Tzagoloff A. Barrientos A, et al. Among authors: rotig a. Gene. 2002 Mar 6;286(1):53-63. doi: 10.1016/s0378-1119(01)00803-4. Gene. 2002. PMID: 11943460 Review.
Infantile and pediatric quinone deficiency diseases.
Rötig A, Mollet J, Rio M, Munnich A. Rötig A, et al. Mitochondrion. 2007 Jun;7 Suppl:S112-21. doi: 10.1016/j.mito.2007.02.008. Epub 2007 Mar 16. Mitochondrion. 2007. PMID: 17442627 Review.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: rotig a. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: rotig a. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
161 results