1. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. (9th October 2018) Authors: Paucar, Martin; Pajak, Aleksandra; Freyer, Christoph; Bergendal, Åsa; Döry, Margit; Laffita-Mesa, José Miguel; Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Savitcheva, Irina; Walker, Ruth H.; Wedell, Anna; Wredenberg, Anna; Svenningsson, Per Journal: Neurology Issue: Volume 91:Number 15(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. FBXL4 deficiency increases mitochondrial removal by autophagy. Issue 7 (11th June 2020) Authors: Alsina, David; Lytovchenko, Oleksandr; Schab, Aleksandra; Atanassov, Ilian; Schober, Florian A; Jiang, Min; Koolmeister, Camilla; Wedell, Anna; Taylor, Robert W; Wredenberg, Anna; Larsson, Nils‐Göran Journal: EMBO molecular medicine Issue: Volume 12:Issue 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. J10 Chorea, psychotic symptoms and long survival in a subject with ELAC2 mutations. (13th September 2016) Authors: Paucar, Martin; Pajak, Aleksandra; Freyer, Christoph; Stranneheim, Henrik; Wedell, Anna; Wredenberg, Anna; Svenningsson, Per Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87(2016)Supplement 1 Page Start: A78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy. (April 2021) Authors: Bruhn, Helene; Samuelsson, Kristin; Schober, Florian A.; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna Journal: Neurology Issue: Volume 7:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2, 4–dihydroxybensoic acid. Issue 11 (17th June 2015) Authors: Freyer, Christoph; Stranneheim, Henrik; Naess, Karin; Mourier, Arnaud; Felser, Andrea; Maffezzini, Camilla; Lesko, Nicole; Bruhn, Helene; Engvall, Martin; Wibom, Rolf; Barbaro, Michela; Hinze, Yvonne; Magnusson, Måns; Andeer, Robin; Zetterström, Rolf H; von Döbeln, Ulrika; Wredenberg, Anna; Wedel... Journal: Journal of medical genetics Issue: Volume 52:Issue 11(2015) Page Start: 779 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Issue 12 (13th January 2022) Authors: Schober, Florian A; Tang, Jia Xin; Sergeant, Kate; Moedas, Marco F; Zierz, Charlotte M; Moore, David; Smith, Conrad; Lewis, David; Guha, Nishan; Hopton, Sila; Falkous, Gavin; Lam, Amanda; Pyle, Angela; Poulton, Joanna; Gorman, Gráinne S; Taylor, Robert W; Freyer, Christoph; Wredenberg, Anna Journal: Human molecular genetics Issue: Volume 31:Issue 12(2022) Page Start: 2049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion. Issue 15 (10th August 2022) Authors: Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filograna, Roberta; Koolmeister, Camilla; Siira, Stefan J; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Care... Journal: Nucleic acids research Issue: Volume 50:Issue 15(2022) Page Start: 8749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Issue 4 (4th February 2021) Authors: Correia, Sandrina P.; Moedas, Marco F.; Naess, Karin; Bruhn, Helene; Maffezzini, Camilla; Calvo‐Garrido, Javier; Lesko, Nicole; Wibom, Rolf; Schober, Florian A.; Jemt, Anders; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly. Issue 1 (7th December 2020) Authors: Cipullo, Miriam; Pearce, Sarah F; Lopez Sanchez, Isabel G; Gopalakrishna, Shreekara; Krüger, Annika; Schober, Florian; Busch, Jakob D; Li, Xinping; Wredenberg, Anna; Atanassov, Ilian; Rorbach, Joanna Journal: Nucleic acids research Issue: Volume 49:Issue 1(2021) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. (August 2020) Authors: Stödberg, Tommy; Magnusson, Måns; Lesko, Nicole; Wredenberg, Anna; Martin Munoz, Daniel; Stranneheim, Henrik; Wedell, Anna Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗