1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. (10th February 2014) Authors: Rasmussen, Magnhild; Scheie, David; Breivik, Noralv; Mork, Marit; Lindal, Sigurd Journal: Acta pædiatrica Issue: Volume 103:Number 5(2014:May) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications. (19th June 2018) Authors: Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A. Journal: Epilepsia Issue: Volume 59:issue 8(2018) Page Start: 1595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. Issue 1 (26th September 2017) Authors: Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence A. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency. Issue 3 (1st March 2022) Authors: Ørstavik, Kristin; Arntzen, Kjell Arne; Mathisen, Per; Backe, Paul Hoff; Tangeraas, Trine; Rasmussen, Magnhild; Kristensen, Erle; Van Ghelue, Marijke; Jonsrud, Christoffer; Bliksrud, Yngve Thomas Journal: JIMD reports Issue: Volume 63:Issue 3(2022) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Issue 4 (23rd January 2020) Authors: Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal ME; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, I. F. M; Pias‐Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 726 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Issue 2 (16th October 2015) Authors: Carrozzo, Rosalba; Verrigni, Daniela; Rasmussen, Magnhild; de Coo, Rene; Amartino, Hernan; Bianchi, Marzia; Buhas, Daniela; Mesli, Samir; Naess, Karin; Born, Alfred Peter; Woldseth, Berit; Prontera, Paolo; Batbayli, Mustafa; Ravn, Kirstine; Joensen, Fróði; Cordelli, Duccio M.; Santorelli, Filippo... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The impact of gender, puberty, and pregnancy in patients with POLG disease. Issue 10 (18th September 2020) Authors: Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias‐Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 10(2020) Page Start: 2019 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The presence of anaemia negatively influences survival in patients with POLG disease. Issue 6 (1st September 2017) Authors: Hikmat, Omar; Charalampos, Tzoulis; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence A. Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 6(2017) Page Start: 861 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗