Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1999 1
2000 1
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 7
2020 4
2021 11
2022 5
2023 4
2024 6
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

64 results

Results by year

Filters applied: . Clear all
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.
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
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.
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.
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.
Rosenberger FA, Moore D, Atanassov I, Moedas MF, Clemente P, Végvári Á, Fissi NE, Filograna R, Bucher AL, Hinze Y, The M, Hedman E, Chernogubova E, Begzati A, Wibom R, Jain M, Nilsson R, Käll L, Wedell A, Freyer C, Wredenberg A. Rosenberger FA, et al. Among authors: wredenberg a. Sci Adv. 2021 Feb 19;7(8):eabf0717. doi: 10.1126/sciadv.abf0717. Print 2021 Feb. Sci Adv. 2021. PMID: 33608280 Free PMC article.
The mitochondrial methylation potential gates mitoribosome assembly.
Glasgow RIC, Singh V, Peña-Pérez L, Wilhalm A, Moedas MF, Moore D, Rosenberger FA, Li X, Atanassov I, Saba M, Cipullo M, Rorbach J, Wedell A, Freyer C, Amunts A, Wredenberg A. Glasgow RIC, et al. Among authors: wredenberg a. Nat Commun. 2025 Jun 25;16(1):5388. doi: 10.1038/s41467-025-60977-x. Nat Commun. 2025. PMID: 40562754 Free PMC article.
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. Among authors: wredenberg a. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
64 results