Academic article

• Aslaksen, Sigrid; Aukrust, Ingvild; Molday, Laurie et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (external link)
• Muñoz-Oreja, Mikel; Sandoval, Abigail; Bruland, Ove et al. (2024). Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. (external link)
• Bassi, Nicola; Hovland, Henrikke; Rasheed, Kashif et al. (2023). Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. (external link)
• Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel et al. (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. (external link)
• Vetti, Hildegunn Høberg; Berge, Elisabet Ognedal; Buisson, Adrien et al. (2020). The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?. (external link)
• Stige, Kjersti Eline; Gjerde, Ivar Otto; Houge, Gunnar Douzgos et al. (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.. (external link)
• Pakdaman, Yasaman; Guixe, Monica Sanchez; Kleppe, Rune et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (external link)
• Neveling, Kornelia; Mensenkamp, Arjen R.; Derks, Ronny et al. (2017). BRCA testing by single-molecule molecular inversion probes. (external link)
• Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (external link)
• Rainger, Joe; Pehlivan, Davut; Johansson, Stefan et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
• Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine et al. (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (external link)
• Tüysüz, Behayan; Kasapçopur, Özgür; Yalçınkaya, Cengiz et al. (2013). Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. (external link)
• Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan et al. (2010). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. (external link)
• Helland, Christian Andre; Aarhus, Mads; Knappskog, Per Morten et al. (2010). Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation. (external link)
• Mckinney, Jeffrey Alan; Turel, Banu; Winge, Ingeborg et al. (2009). Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. (external link)
• Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (external link)
• Winge, Ingeborg; Mckinney, Jeffrey; Ying, Ming et al. (2008). Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. (external link)
• Aarhus, Mads; Bruland, Ove; Bredholt, Geir et al. (2008). Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomas. (external link)
• Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per et al. (2007). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. (external link)
• Bratland, Eirik; Wolff, Anette Susanne Bøe; Haavik, Jan et al. (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. (external link)
• Rødahl, Eyvind; Ginderdeuren, Rita Van; Knappskog, Per et al. (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. (external link)
• Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan (2005). Different properties of the central and peripheral forms of human tryptophan hydroxylase. (external link)
• Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek et al. (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. (external link)
• Myhre, Anne Grethe; Stray-Pedersen, Asbjørg; Eide, E et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (external link)
• Bruland, Ove; Knappskog, Per (2004). One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism. (external link)
• Krossøy, Bjørn; Devold, Magnus; Sanders, Lisette et al. (2001). Cloning and identification of the infectious salmon anaemia virus haemagglutinin. (external link)
• Ellingsen, Ståle; Knappskog, Per; Apold, Jaran et al. (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations. (external link)
• Kleppe, Rune; Uhlemann, K; Knappskog, Per et al. (1999). Urea-induced denaturation of human phenylalanine hydroxylase. (external link)
• Knappskog, Per; Martinez, Aurora (1997). Effect of mutations at Cys 237 on the activation state and activity of human phenylalanine hydroxylase. (external link)
• Erlandsen, H.; Martinez, S.; Knappskog, Per et al. (1997). Crystallization and preliminary crystallographic studies of a truncated recombinant form of human phenylalanine hydroxylase. (external link)
• Døskeland, Anne Paulus; Martinez, Aurora; Knappskog, Per et al. (1996). Phosphorylation of recombinant human phenylalanine hydroxylase. Effect on catalytic activity, substrate activation and protection against non-spesific cleavage of the fusion protein by restriction protease. (external link)
• Olsen, T.C.; Eiken, Hans Geir; Knappskog, Per et al. (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. (external link)
• Eiken, Hans Geir; Knappskog, Per; Boman, H. et al. (1996). Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway. (external link)
• Døskeland, Anne Paulus; Martinez, Aurora; Knappskog, Per et al. (1996). Phosphorylation of recombinant human phenylalanine hydroxylase. Effect on catalytic activity, substrate activation and protection against non-spesific cleavage of the fusion protein by restriction protease. (external link)
• Eiken, Hans Geir; Knappskog, P.M.; Motzeldt, Kristina et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora et al. (1995). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (external link)

Reader opinion piece

• Gaare, Johannes Jernqvist; Nido, Gonzalo Sanchez; Sztromwasser, Pawel Szymon et al. (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. (external link)

Editorial

• Leo, R. Di; Nolano, M.; Boman, H et al. (2010). Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. (external link)

Report

• Bjervamoen, Siv Grete; Eiken, Hans Geir; Smith, Martin et al. (2008). Populasjonsovervåkning av brunbjørn 2005-2008 : rapport for Sør-Norge, 2007. (external link)

Academic lecture

• Hammenfors, D; Løvås, Kristian; Bredholt, G et al. (2005). Variable expression of FKBP51 in Addison's Disease - a parameter of glucocorticoid sensitivity ?. (external link)
• Ekern, Trude; Toska, Karen; Knappskog, Per et al. (1998). Strategies for the expression, purification and immunological characterization of aromatic amino acid hydroxylases. (external link)

Academic chapter/article/Conference paper

• Flatmark, Torgeir; Knappskog, Per (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. (external link)

See a complete overview of publications in Cristin.