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Plos One|July 2, 2015
B-Lymphocyte Depletion in Myalgic Encephalopathy/ Chronic Fatigue Syndrome. An Open-Label Phase II Study with Rituximab Maintenance TreatmentØystein Fluge, Kristin Risa, Sigrid Lunde, et al.
Journal of Neuro-Oncology|March 28, 2008
Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomasMads Aarhus, Ove Bruland, Geir Bredholt, et al.
European Journal of Human Genetics : EJHG|December 22, 2018
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndromeCecilie Bredrup, Tomasz Stokowy, Julie McGaughran, et al.
FEBS Letters|February 13, 2023
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasiaIleana Cristea, Hugo Abarca, Anne E Christensen Mellgren, et al.
Annals of the Rheumatic Diseases|April 1, 2011
Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndromeSilke Appel, Stephanie Le Hellard, Ove Bruland, et al.
Plos One|January 5, 2017
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical StudiesKristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, et al.
Acta Ophthalmologica|December 1, 2020
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophiesJosephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, et al.
Human Molecular Genetics|January 15, 2021
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutionsCecilie Bredrup, Ileana Cristea, Leen Abu Safieh, et al.
American Journal of Human Genetics|November 20, 2018
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti SyndromeLinda Xu, Hanne Jensen, Jennifer J Johnston, et al.
Orphanet Journal of Rare Diseases|September 27, 2014
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneityKetil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, et al.
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