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Year Number of Results
2002 1
2004 1
2005 1
2006 1
2008 2
2009 2
2011 2
2012 1
2013 1
2014 2
2015 5
2016 2
2017 3
2018 2
2019 6
2020 4
2021 10
2022 5
2023 4
2024 0

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52 results

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Page 1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: wredenberg a. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: wredenberg a. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Premature ageing in mice expressing defective mitochondrial DNA polymerase.
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT, Larsson NG. Trifunovic A, et al. Among authors: wredenberg a. Nature. 2004 May 27;429(6990):417-23. doi: 10.1038/nature02517. Nature. 2004. PMID: 15164064
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.
Clemente P, Calvo-Garrido J, Pearce SF, Schober FA, Shigematsu M, Siira SJ, Laine I, Spåhr H, Steinmetzger C, Petzold K, Kirino Y, Wibom R, Rackham O, Filipovska A, Rorbach J, Freyer C, Wredenberg A. Clemente P, et al. Among authors: wredenberg a. Nat Commun. 2022 Sep 30;13(1):5750. doi: 10.1038/s41467-022-33368-9. Nat Commun. 2022. PMID: 36180430 Free PMC article.
Metabolic regulation of neurodifferentiation in the adult brain.
Maffezzini C, Calvo-Garrido J, Wredenberg A, Freyer C. Maffezzini C, et al. Among authors: wredenberg a. Cell Mol Life Sci. 2020 Jul;77(13):2483-2496. doi: 10.1007/s00018-019-03430-9. Epub 2020 Jan 7. Cell Mol Life Sci. 2020. PMID: 31912194 Free PMC article. Review.
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
Zhang J, Koolmeister C, Han J, Filograna R, Hanke L, Àdori M, Sheward DJ, Teifel S, Gopalakrishna S, Shao Q, Liu Y, Zhu K, Harris RA, McInerney G, Murrell B, Aoun M, Bäckdahl L, Holmdahl R, Pekalski M, Wedell A, Engvall M, Wredenberg A, Karlsson Hedestam GB, Castro Dopico X, Rorbach J. Zhang J, et al. Among authors: wredenberg a. JCI Insight. 2023 Sep 8;8(17):e167656. doi: 10.1172/jci.insight.167656. JCI Insight. 2023. PMID: 37681412 Free PMC article.
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Misic J, Milenkovic D, Al-Behadili A, Xie X, Jiang M, Jiang S, Filograna R, Koolmeister C, Siira SJ, Jenninger L, Filipovska A, Clausen AR, Caporali L, Valentino ML, La Morgia C, Carelli V, Nicholls TJ, Wredenberg A, Falkenberg M, Larsson NG. Misic J, et al. Among authors: wredenberg a. Nucleic Acids Res. 2022 Aug 26;50(15):8749-8766. doi: 10.1093/nar/gkac661. Nucleic Acids Res. 2022. PMID: 35947649 Free PMC article.
FBXL4 deficiency increases mitochondrial removal by autophagy.
Alsina D, Lytovchenko O, Schab A, Atanassov I, Schober FA, Jiang M, Koolmeister C, Wedell A, Taylor RW, Wredenberg A, Larsson NG. Alsina D, et al. Among authors: wredenberg a. EMBO Mol Med. 2020 Jul 7;12(7):e11659. doi: 10.15252/emmm.201911659. Epub 2020 Jun 11. EMBO Mol Med. 2020. PMID: 32525278 Free PMC article.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Schober FA, et al. Among authors: wredenberg a. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. Hum Mol Genet. 2022. PMID: 35024855 Free PMC article.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A. Calvo-Garrido J, et al. Among authors: wredenberg a. Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28. Stem Cell Reports. 2019. PMID: 30827875 Free PMC article.
52 results