1. A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental stress. (March 2019) Authors: Szakács, Attila; Chaplin, John Eric; Tideman, Pontus; Strömberg, Ulf; Nilsson, Jannie; Darin, Niklas; Hallböök, Tove Journal: European journal of paediatric neurology Issue: Volume 23:Number 2(2019:Mar.) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autoantibody targets in vaccine-associated narcolepsy. (17th August 2016) Authors: Häggmark-Månberg, Anna; Zandian, Arash; Forsström, Björn; Khademi, Mohsen; Lima Bomfim, Izaura; Hellström, Cecilia; Arnheim-Dahlström, Lisen; Hallböök, Tove; Darin, Niklas; Lundberg, Ingrid E.; Uhlén, Mathias; Partinen, Markku; Schwenk, Jochen M.; Olsson, Tomas; Nilsson, Peter Journal: Autoimmunity Issue: Volume 49:Number 6(2016) Page Start: 421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease. Issue 5 (3rd May 2021) Authors: Sofou, Kalliopi; Meier, Kolja; Sanderson, Leslie E; Kaminski, Debora; Montoliu‐Gaya, Laia; Samuelsson, Emma; Blomqvist, Maria; Agholme, Lotta; Gärtner, Jutta; Mühlhausen, Chris; Darin, Niklas; Barakat, Tahsin Stefan; Schlotawa, Lars; van Ham, Tjakko; Asin Cayuela, Jorge; Sterky, Fredrik H Journal: EMBO molecular medicine Issue: Volume 13:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation. (August 2020) Authors: Hedberg-Oldfors, Carola; Darin, Niklas; Thomsen, Christer; Lindberg, Christopher; Oldfors, Anders 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) ↗
5. Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene. Issue 1 (30th September 2019) Authors: Jensen, Kristian Vestergaard; Frid, Maria; Stödberg, Tommy; Barbaro, Michela; Wedell, Anna; Christensen, Mette; Bak, Mads; Ek, Jakob; Madsen, Camilla Gøbel; Darin, Niklas; Grønborg, Sabine Journal: JIMD reports Issue: Volume 50:Issue 1(2019) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. Issue 2 (21st September 2020) Authors: Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas; Sofou, Kalliopi; Bindoff, Laurence; Hikmat, Omar; Uusimaa, Johanna; Vieira, Päivi; Tulinius, Már; Lönnqvist, Tuula; de Coo, Irenaeus F.; Suomalainen, Anu; Isohanni, Pirjo Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Endocrine and metabolic aspects of narcolepsy type 1 in children. (July 2021) Authors: Szakács, Attila; Dahlgren, Jovanna; Eklund, Jannie; Aronson, A. Stefan; Hallböök, Tove; Darin, Niklas Journal: European journal of paediatric neurology Issue: Volume 33(2021) Page Start: 68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Epidemiology of lysosomal storage diseases in Sweden. (15th October 2014) Authors: Hult, Malin; Darin, Niklas; von Döbeln, Ulrika; Månsson, Jan‐Eric Journal: Acta pædiatrica Issue: Volume 103:Number 12(2014:Dec.) Page Start: 1258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗