1. Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy. (May 2016) Authors: Ygberg, Sofia; Naess, Karin; Eriksson, Mats; Stranneheim, Henrik; Lesko, Nicole; Barbaro, Michela; Wibom, Rolf; Wang, Chen; Wedell, Anna; Wickström, Ronny Journal: European journal of paediatric neurology Issue: Volume 20:Number 3(2016:May) Page Start: 457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants. (23rd May 2018) Authors: Teär Fahnehjelm, Kristina; Olsson, Monica; Chen, Enping; Hengstler, Jürg; Naess, Karin; Winiarski, Jacek Journal: Acta pædiatrica Issue: Volume 107:Number 11(2018) Page Start: 1995 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. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease. Issue 11 (18th October 2021) Authors: Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escoba... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 11(2021) Page Start: 2155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy. Issue 6 (28th March 2019) Authors: Maffezzini, Camilla; Laine, Isabelle; Dallabona, Cristina; Clemente, Paula; Calvo‐Garrido, Javier; Wibom, Rolf; Naess, Karin; Barbaro, Michela; Falk, Anna; Donnini, Claudia; Freyer, Christoph; Wredenberg, Anna; Wedell, Anna Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 6(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study. Issue 2 (17th December 2021) Authors: Savvidou, Antri; Ivarsson, Liz; Naess, Karin; Eklund, Erik A.; Lundgren, Johan; Dahlin, Maria; Frithiof, Deborah; Sofou, Kalliopi; Darin, Niklas Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Partial tetrasomy 14 associated with multiple malformations. Issue 6 (23rd April 2013) Authors: Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt‐Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. Issue 1 (3rd November 2017) Authors: Sofou, Kalliopi; de Coo, Irenaeus F M; Ostergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Már; Darin, Niklas Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Issue 1 (6th December 2021) Authors: Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence A; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017) Authors: Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F... Journal: Annals of neurology Issue: Volume 82:Issue 6(2017) Page Start: 1004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗