Academic article

• Anne Elisabeth Christensen; Ileana Cristea; Thomas Michael James Stevenson et al. (2025). On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469. (external link)
• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Anne Elisabeth Christensen; Ove Bruland; Anni Vedeler et al. (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. (external link)
• Hildegunn Høberg Vetti; Elisabet Ognedal Berge; Adrien Buisson 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)
• Mads Aarhus; Christian Andre Helland; Morten Lund-Johansen et al. (2010). Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. (external link)
• Ng'weina Francis Magitta; Mikulás Pura; Anette Susanne Bøe Wolff et al. (2008). Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (external link)
• Ingeborg Winge; Jeffrey Mckinney; Ming Ying et al. (2008). Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. (external link)
• Ståle Ellingsen; Per Knappskog; Jaran Apold et al. (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations. (external link)
• Lars Haarr; Arvid E Nilsen; Per Knappskog et al. (2014). Stability of glycoprotein gene sequences of herpes simplex virus type 2 from primary to recurrent human infection, and diversity of the sequences among patients attending an STD clinic. (external link)
• Hans Geir Eiken; Per Knappskog; Jaran Apold (1993). Restriction enzyme based assays for complete genotyping of phenylketonuria patients. (external link)
• Eyvind Rødahl; Per Knappskog; Jacek Majewski et al. (2013). Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. (external link)
• Mira Krendel; Sabine Leh; Michael E. Garone et al. (2022). Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis. (external link)
• Anne Paulus Døskeland; Aurora Martinez; Per Knappskog 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)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1996). PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxilase in three different systems. (external link)
• Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• Sigrid Aslaksen; Ingvild Aukrust; Laurie Molday et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (external link)
• Torben Gjetting; Anne Romstad; Jan Haavik et al. (2001). A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. (external link)
• Ove Bruland; Per Knappskog (2004). One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism. (external link)
• Eyvind Rødahl; Rita Van Ginderdeuren; Per Knappskog et al. (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. (external link)
• Christian Andre Helland; Mads Aarhus; Per Morten Knappskog et al. (2010). Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation. (external link)
• Ólafur Ó. Gudmundsson; Gudmundur Bragi Walters; Andrés Ingason et al. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. (external link)
• Mikel Muñoz-Oreja; Abigail Sandoval; Ove Bruland et al. (2024). Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. (external link)
• Ingeborg Winge; Jeffrey Alan Mckinney; Per Knappskog et al. (2008). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. (external link)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1995). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (external link)
• H. Erlandsen; S. Martinez; Per Knappskog et al. (1997). Crystallization and preliminary crystallographic studies of a truncated recombinant form of human phenylalanine hydroxylase. (external link)
• Charalompos Tzoulis; Tetyana Zayats; Per Knappskog et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Mathias Kaas; Sarah Broholt Dinesen; Ole Ahlgreen et al. (2025). A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity. (external link)
• Per Knappskog; Torgeir Flatmark; J. Mallet et al. (1995). Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (external link)
• Anette Susanne Bøe Wolff; Martina Moter Erichsen; Anthony Meager et al. (2007). Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (external link)
• Per Knappskog; Jan Haavik (1995). Tryptophan fluorescence of human phenylalanine hydroxylase expressed in Escherichia coli. (external link)
• Nicola Bassi; Henrikke Hovland; Kashif Rasheed et al. (2023). Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. (external link)
• Iselin Marie Wedding; Mette Kroken; Sandra Pilar Henriksen et al. (2015). Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. (external link)
• Rune Kleppe; K Uhlemann; Per Knappskog et al. (1999). Urea-induced denaturation of human phenylalanine hydroxylase. (external link)
• Charalampos Tzoulis; Pawel Szymon Sztromwasser; Stefan Johansson et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (external link)
• Anne Paulus Døskeland; Aurora Martinez; Per Knappskog 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)
• Aril Løge Håvik; Ove Bruland; Mads Aarhus et al. (2018). Screening for viral nucleic acids in vestibular schwannoma. (external link)
• Anne Paulus Døskeland; Aurora Martinez; Per Knappskog et al. (1996). Phosphorylation of recombinant human phenylalanine hydroxylase. Effect on catalytic activity, substrate activation and protection against non-specific cleavage of the fusion protein by restriction protease. (external link)
• Stefan Johansson; Anne Halmøy; Thegna Mavroconstanti et al. (2010). Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations. (external link)
• Cecilie Bredrup; Stefan Johansson; Laurence Bindoff et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Kristin Nielsen Varhaug; Gonzalo Sanchez Nido; Irenaeus de Coo et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (external link)
• Anette Susanne Bøe; Geir Bredholt; Per Knappskog et al. (2004). Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1. (external link)
• Bergithe Eikeland Oftedal; Alexander Hellesen; Martina Moter Erichsen et al. (2015). Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. (external link)
• Bjørn Krossøy; Magnus Devold; Lisette Sanders et al. (2001). Cloning and identification of the infectious salmon anaemia virus haemagglutinin. (external link)
• Elizaveta M. Orlova; Leila S. Sozaeva; Maria A. Kareva et al. (2017). Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.. (external link)
• Bernarda Lozić; Stefan Johansson; Sanja Lovric Kojundzic et al. (2016). Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. (external link)
• Ingeborg Winge; Jeffrey Alan Mckinney; Per Knappskog et al. (2007). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. (external link)
• Hans Geir Eiken; Per Knappskog; P. Guldberg et al. (1996). DGGE analysis as a supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations. (external link)
• Joe Rainger; Davut Pehlivan; Stefan Johansson et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Mads Aarhus; Ove Bruland; Geir Bredholt 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)
• Anette Susanne Bøe Wolff; Bergithe Eikeland Oftedal; Stefan Johansson et al. (2008). AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (external link)
• Mauricio Arcos-Burgos; Mahim Jain; Maria T. Acosta et al. (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (external link)
• Per Knappskog; Aurora Martinez (1997). Effect of mutations at cys 237 on the activation state and activity of human phenylalanine hydroxylase. (external link)
• Amund Holte Berger; Bergithe Eikeland Oftedal; Anette Susanne Bøe Wolff et al. (2025). High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys. (external link)
• Per Knappskog; Torgeir Flatmark; J Mallet et al. (1995). Reccessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (external link)
• Øyvind Bruserud; Bergithe Eikeland Oftedal; Nils Landegren et al. (2016). A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. (external link)
• Per Knappskog; Aurora Martinez (1997). Effect of mutations at Cys 237 on the activation state and activity of human phenylalanine hydroxylase. (external link)
• Ove Bruland; Øystein Fluge; Lars A. Akslen et al. (2009). Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas. (external link)
• Torunn Fiskerstrand; Najla Arshad; Bjørn Ivar Haukanes et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (external link)
• Ingvild Aukrust; Ragnhild Wivestad Jansson; Cecilie Bredrup et al. (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. (external link)
• Andreas Reif; T. Trang Nguyen; Lena Weissflog et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (external link)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1996). PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxilase in three different systems. (external link)
• Per Knappskog; Torgeir Flatmark; J. M. Aarden et al. (1996). Structure-function relationship in human phenylalanine hydroxylase . Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme. (external link)
• Anne Halmøy; Stefan Johansson; Ingeborg Winge et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (external link)
• Masanori Yamazaki; Tomoki Kosho; Shigeo Kawachi et al. (2010). Cold-induced sweating syndrome with neonatal features of crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (external link)
• Jeffrey Alan Mckinney; Per Knappskog; Jan Haavik (2005). Different properties of the central and peripheral forms of human tryptophan hydroxylase. (external link)
• Anne Elisabeth Christensen; Per Morten Knappskog; Marit Midtbø et al. (2010). Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. (external link)
• Øivind Fredvik Torkildsen; Per Knappskog; Harald Inge Nyland et al. (2008). Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. (external link)
• Barbara Franke; Alejandro Arias Vasquez; Stefan Johansson et al. (2009). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. (external link)
• I. Dianzani; Per Knappskog; L. Desanctis et al. (1996). Novel missense mutation in the phenylalanine-hydroxylase gene leading to complete loss of enzymatic-activity. (external link)
• Barbara Franke; Alejandro Arias Vasquez; Stefan Johansson 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)
• Stefan Johansson; Helene Halleland; Anne Halmøy et al. (2008). Genetic Analyses of Dopamine Related Genes in Adult ADHD Patients Suggest an Association With the DRD5-Microsatellite Repeat, But Not With DRD4 or SLC6A3 VNTRs. (external link)
• Siv Aarnes; Snorre Hagen; Rune Andreassen et al. (2015). Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. (external link)
• Marta Ribases; Rosa Bosch; Amaia Hervas et al. (2009). Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. (external link)
• François Rousseau; Jean-François Gauchat; James G. McLeod et al. (2006). Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. (external link)
• Daniel Eriksson; Ellen Christine Røyrvik; Maribel Aranda-Guillen et al. (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. (external link)
• Elisabeth Thoverud Landaas; Stefan Johansson; Kaya Kvarme Jacobsen et al. (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. (external link)
• Agnete Fossbakk; Rune Kleppe; Per Knappskog et al. (2014). Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia. (external link)
• Ng’weina Francis Magitta; AS Bøe; S Johansson et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• T.F. Olsen; Hans Geir Eiken; P.M. Knappskog et al. (1996). Mutations in the Induronate 2-sulfatase gene in five Norwegians with Hunter syndrome. (external link)
• Carl Wibom; Lina Mörén; Mads Aarhus et al. (2009). Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype. (external link)
• Peter Taule-Sivertsen; Ove Bruland; Aril Løge Håvik et al. (2021). The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. (external link)
• Ketil Riddervold Heimdal; Monica Sanchez Guixe; Ingvild Aukrust et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (external link)
• Anne Elisabeth Christensen; Per Morten Knappskog; Helge Boman et al. (2010). A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. (external link)
• Dario Brunetti; Janniche Torsvik; Cristina Dallabona et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• M Melone; M Pellegrino; M Nolano et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.. (external link)
• Per Knappskog; Jan Haavik (1995). Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli. (external link)
• I Dianzani; Per Knappskog; L de Sanctis et al. (1995). Novel missence mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. (external link)
• H Erlandsen; Aurora Martinez; Per Knappskog et al. (1997). Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. (external link)
• Aril Løge Håvik; Ove Bruland; Erling Myrseth et al. (2017). Genetic landscape of sporadic vestibular schwannoma. (external link)
• Irene Hana Flønes; Pawel Szymon Sztromwasser; Kristoffer Haugarvoll et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (external link)
• B. Lüdecke; Per Knappskog; P. T. Clayton et al. (1996). Recessively inherited L-DOPA-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. (external link)
• Ståle Ellingsen; Per Knappskog; Jaran Apold et al. (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsesense (G272X, Y356X) and missense (P281L, R408Q) mutations. (external link)
• Hans Geir Eiken; Per Knappskog; Jaran Apold et al. (1992). A de novo phenylketonuria mutation: ATG(Met) to ATA(Ile) in the start codon of the phenylalanine hydroxylase gene. (external link)
• Hans Geir Eiken; K. Stangeland; L. Skjelkvåle et al. (1992). PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions, and phenotype characteristics. (external link)
• Frederiko Miranda; Knut Teigen; Matthias Thorolfsson et al. (2002). Phosphorylation and mutations of Ser16 in human phenylalanine hydroxylase. Kinetic and structural effects. (external link)
• Elisa Bjørgo; Per Knappskog; Aurora Martínez et al. (1998). Expression, characterization and 3D-structural localization of eight phnylketonuria mutations in exon 7 of the human phenylalanine hydroxylase gene. (external link)
• Ingeborg Winge; Jeffrey Alan Mckinney; Per Knappskog et al. (2006). Characterization og wild-type and mutant forms of human trytopan hydroxylase 2. (external link)
• Paula Rovira; Ditte Demontis; Cristina Sánchez-Mora et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (external link)
• Mads Aarhus; Hege Aase Sætran; Sverre Mørk et al. (2010). Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas. (external link)
• AF Hahn; D.L Jones; Per Knappskog et al. (2006). Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. (external link)
• Rune Kleppe; K Uhlemann; Per Knappskog et al. (1999). Urea-induced denaturation of human phenylalanine hydroxylase. (external link)
• V Schünemann; C Meier; W Meyer-Klaucke et al. (1999). Iron coordination geometry in full-length, truncated, and dehydrated forms of human tyrosine hydroxylase studied by Mossbauer and X-ray spectroscopy. (external link)
• Torunn Fiskerstrand; Per Knappskog; Jacek Majewski et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (external link)
• Bergithe Eikeland Oftedal; Amund Holte Berger; Øyvind Bruserud et al. (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. (external link)
• Hans Geir Eiken; Per Knappskog; K. Motzfeldt et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• Anne Grethe Myhre; A. Stray-Pedersen; S. Spangen et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (external link)
• P.J Waters; A.C Hewson; C.R Scriver et al. (1997). Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. (external link)
• Angelika F. Hahn; Per Erik Waaler; Per Helge Kvistad et al. (2010). Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. (external link)
• Cecilie Bredrup; Sophie Saunier; Machteld M. Oud et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (external link)
• Haydee Artaza; Daniel Eriksson; Ksenia Lavrichenko et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (external link)
• Aril Løge Håvik; Ove Bruland; Hrvoje Miletic et al. (2021). Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma. (external link)
• Sven Cichon; Ingeborg Winge; Manuel Mattheisen et al. (2008). Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5 '-region are associated with bipolar affective disorder. (external link)
• Hans Geir Eiken; Per Knappskog; Jaran Apold et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (external link)
• Behayan Tüysüz; Özgür Kasapçopur; Cengiz Yalçınkaya 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)
• T.C. Olsen; Hans Geir Eiken; Per Knappskog et al. (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. (external link)
• Cecilie Bredrup; Per Knappskog; Jacek Majewski et al. (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. (external link)
• Per Morten Knappskog; J Majewski; A Livneh et al. (2003). Cold-induced sweating syndrome is caused by mutations in the CRLgene. (external link)
• Maxence S. Macia; Jan Halbritter; Marion Delous et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1994). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (external link)
• Josephine Prener Holtan; Ingvild Aukrust; Ragnhild Wivestad Jansson et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (external link)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (external link)
• Kjersti Eline Stige; Ivar Otto Gjerde; Gunnar Douzgos Houge et al. (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.. (external link)
• Cristina Sánchez-Mora; Marta Ribases; Josep Antonio Ramos-Quiroga et al. (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. (external link)
• Charalampos Tzoulis; Stefan Johansson; Bjørn Ivar Haukanes et al. (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (external link)
• Geir Bredholt; Anette Margrethe Storstein; Monica Haugen et al. (2006). Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. (external link)
• Eirik Bratland; Ng'weina Francis Magitta; Anette Susanne Bøe Wolff et al. (2013). Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (external link)
• Aurora Martinez; Per Knappskog; S Olafsdottir et al. (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. (external link)
• Daniel Eriksson; Frida Dalin; Gabriel Nordling Eriksson et al. (2018). Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. (external link)
• Henrikke Nilsen Hovland; Rafal Isam Fatoohi Al-Adhami; Sarah Louise Ariansen et al. (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. (external link)
• Henrikke Nilsen Hovland; Eunice Kabanyana Mchaina; Hildegunn Høberg Vetti et al. (2023). Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. (external link)
• J McKinney; Jeffrey Alan Mckinney; Per Knappskog et al. (2004). Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. (external link)
• Lin Wang; Heidi Erlandsen; Jan Haavik et al. (2002). Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (external link)
• Ingeborg Brønstad; Anette Susanne Bøe Wolff; Kristian Løvås et al. (2011). Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. (external link)
• Hans Geir Eiken; Per Knappskog; Jaran Apold et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (external link)
• Kristoffer Haugarvoll; Charalampos Tzoulis; Gia Tuong Thi Tran et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (external link)
• Thea Sjøgren; Eirik Bratland; Ellen Christine Røyrvik et al. (2022). Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. (external link)
• Johannes Jernqvist Gaare; Gonzalo Sanchez Nido; Pawel Szymon Sztromwasser et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (external link)
• R Chehin; Mathias Thorolfsson; Per Knappskog et al. (1998). Domain structure and stability of human phenylalanin hydroxylase inferred from infrared spectroscopy. (external link)
• Yasaman Pakdaman; Monica Sanchez Guixe; Rune Kleppe 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)
• Rune Andreassen; Julia Schregel; Alexander Kopatz et al. (2012). A forensic DNA profiling system for Northern European brown bears (Ursus arctos). (external link)
• Omar Hikmat; Charalampos Tzoulis; Per Knappskog et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• Anne Grethe Myhre; Asbjørg Stray-Pedersen; E Eide et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (external link)
• Jeffrey Alan Mckinney; Banu Turel; Ingeborg Winge et al. (2009). Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. (external link)
• Torgeir Flatmark; Bjørg Almås; Per Knappskog et al. (1999). Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity as shown by kinetic analysis and surface plasmon resonance detection. (external link)
• Eirik Bratland; Geir Bredholt; Gunnar Mellgren et al. (2009). The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease. (external link)
• Kornelia Neveling; Arjen R. Mensenkamp; Ronny Derks et al. (2017). BRCA testing by single-molecule molecular inversion probes. (external link)
• Yasaman Pakdaman; Siren Berland; Helene J. Bustad et al. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. (external link)
• Tetyana Zayats; Lavinia Athanasiu; Ida Elken Sønderby et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (external link)
• Silje Hjorth Rafaelsen; Helge Ræder; Anne Kristine Fagerheim et al. (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (external link)
• Hans Geir Eiken; Per Knappskog; P. Guldberg et al. (1996). DGGE analysis as a supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations. (external link)
• Peter Daniel Szigetvari; Gopinath Muruganandam; Juha Kallio et al. (2018). The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. (external link)
• Aril Løge Håvik; Ove Bruland; Dhanushan Dhayalan et al. (2020). Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. (external link)
• Anette Susanne Bøe; G. Bredholt; Per Knappskog et al. (2004). Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system. (external link)
• T.C. Olsen; Hans Geir Eiken; Per Knappskog et al. (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. (external link)
• Rune Rose Tronstad; Tatiana Polushina; Hans-Richard Brattbakk et al. (2018). Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. (external link)
• Hans Geir Eiken; Per Knappskog; H. Boman et al. (1996). Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway. (external link)
• Thegna Mavroconstanti; Stefan Johansson; Ingeborg Winge et al. (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. (external link)
• Ng'weina Francis Magitta; Anette Susanne Bøe Wolff; Stefan Johansson et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Eirik Bratland; Anette Susanne Bøe Wolff; Jan Haavik et al. (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. (external link)
• Åse Bjorvatn Sævik; Anette Susanne Bøe Wolff; Sigridur Björnsdottir et al. (2021). Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease. (external link)
• Torunn Fiskerstrand; Gunnar Houge; Bjørn Ståle Sund et al. (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (external link)
• Hans Geir Eiken; Per Knappskog; K. Motzfeldt et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• B. Lüdecke; Per Knappskog; P.T. Clayton et al. (1996). Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a poin mutation (L205P) in the tyrosine hydroxylase gene. (external link)
• Aurora Martinez; Per Knappskog; S Olafsdottir et al. (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme. (external link)
• Dinka Smajlagic; Ksenia Lavrichenko; Siren Berland et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (external link)
• Tim Berger; Andrea Hasenfus; Cecilie Bredrup et al. (2024). Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy. (external link)
• Hans Geir Eiken; P.M. Knappskog; Kristina Motzeldt et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• Hans Geir Eiken; P.M. Knappskog; H. Boman et al. (1996). Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. (external link)
• Hildegunn Høberg Vetti; Cathrine Bjorvatn; Bent Fiane et al. (2016). BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. (external link)
• Cecilie Bredrup; Espen Stang; Ove Bruland et al. (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (external link)

Letter to the editor

• Jeffrey Mckinney; Stefan Johansson; Anne Halmøy et al. (2008). A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. (external link)
• Johannes Jernqvist Gaare; Gonzalo Sanchez Nido; Pawel Szymon Sztromwasser et al. (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. (external link)
• Sreeram V Ramagopalan; Heather EC Hanwell; Gavin Giovannoni et al. (2010). Vitamin D-Dependent Rickets, HIA-DRB1, and the Risk of Multiple Sclerosis. (external link)

Academic book chapter

• Torgeir Flatmark; Per Knappskog (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. (external link)
• Oscar Aubi; Per Knappskog; Aurora Martinez (2012). Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases. (external link)
• Torgeir Flatmark; Per Knappskog; Elisa Bjørgo et al. (1997). Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. (external link)
• Torgeir Flatmark; Per Knappskog; Elisa Bjørgo et al. (1997). Molecular (-en 1) characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. (external link)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1993). Expression of recombinant wild type and mutant forms of human phenylalanine hydroxylase in E. coli. (external link)
• Torgeir Flatmark; Per Knappskog (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. (external link)
• Per Knappskog; Hans Geir Eiken; Aurora Martinez et al. (1993). Expression of wild type and mutant forms of human phenylalanine hydroxylase in E.Coli. (external link)
• Eyvind Rødahl; Anne Elisabeth Christensen; Torunn Fiskerstrand et al. (2012). ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae. (external link)

Conference poster

• Yasaman Pakdaman; Eirik Austad; Elsa Denker et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (external link)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2020). Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Helene Halleland; Per Knappskog; Ole Bernt Fasmer et al. (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway. (external link)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2020). Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Helene Halleland; Anne Halmøy; Ole Bernt Fasmer et al. (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway. (external link)
• Anne Christine Lundstad; Ingeborg Winge; Jeffrey Alan Mckinney et al. (2005). Expression and molecular characterization of human tryptophan hydroxylases. (external link)
• Jan Haavik; Jeffrey Alan Mckinney; Per Knappskog (2004). Molecular properties of the central and peripheral forms of human tryptophan hydroxylase (TPH1 and TPH2). (external link)

Conference abstract

• Eirik Bratland; Anette Susanne Bøe Wolff; Jan Haavik et al. (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. (external link)
• Ingeborg Winge; Jeffrey Alan Mc Kinney; Anne Halmøy et al. (2010). FUNCTIONAL STUDIES OF DISEASE-RELATED VARIANTS IN HUMAN TRYPTOPHAN HYDROXYLASE 1 AND 2. (external link)
• Bergithe Eikeland Oftedal; Martina Moter Erichsen; Alexander Hellesen et al. (2013). Dominant Inheritance in Autoimmune Endocrine Syndrome Type 1. (external link)
• Jan Haavik; Stefan Johansson; Per Morten Knappskog et al. (2009). From synthesis to uptake - serotonergic genes in adult ADHD. (external link)
• Laurence Bindoff; Torunn Fiskerstrand; D H'mida-Ben Brahim et al. (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. (external link)
• Ingeborg Winge; Jeffrey Alan Mckinney; Per Knappskog et al. (2005). Effects of mutations in human tryptophan hydroxylases associated with altered monoaminergic neurotransmission. (external link)
• Ingeborg Brønstad; Beate Skinningsrud; Anette Susanne Bøe Wolff et al. (2013). Characterisation of the CYP21A2 Gene in Patients with Autoimmune Addison's Disease. (external link)
• Jan Haavik; Ingeborg Winge; Jeffrey Alan Mckinney et al. (2005). Biochemical characterization of mutant aromatic amino acid hydroxylases implicated in psychiatric disorders. (external link)

Master’s thesis

• Per Knappskog (1992). Ekspresjon av normal og mutant human-fenylalin hydrokylase i Escherichia coli. (external link)
• Peter Daniel Szigetvari; Jan Haavik; Per Knappskog (2015). Functional studies of tyrosine hydroxylase (TH) variants associated with DOPA responsive dystonia. (external link)
• Amund Holte Berger; Stefan Johansson; Per Knappskog (2018). Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. (external link)

Academic literature review

• Thegna Mavroconstanti; Ingeborg Winge; Jeffrey Alan Mc Kinney et al. (2010). Functional studies of candidate genes involved in ADHD. (external link)
• Julia Schregel; Alexander Kopatz; Snorre Hagen et al. (2012). Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east–west border population in the Pasvik Valley. (external link)
• Mads Aarhus; Morten Lund-Johansen; Per Knappskog (2011). Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies. (external link)

Conference lecture

• P.J. Waters; A.S. Hewson; C.R. Scriver et al. (1996). Comparative analysis of phenylalanine hydroxylase (PAH) A104D mutant, associated with variant phenylketonuria (PKU) and wild-type enzyme. (external link)
• D Hammenfors; Kristian Løvås; G Bredholt et al. (2005). Variable expression of FKBP51 in Addison's Disease - a parameter of glucocorticoid sensitivity ?. (external link)
• Rune Kleppe; Per Knappskog; Jan Haavik (1998). Thermodynamic stability of human phenylalanine hydroxylase. (external link)
• Helge Boman; Roger Løvlie; Per Knappskog (1998). Three new FHH mutations and eight genetic variants in the calcium sensing receptor (CASR) gene. (external link)
• Trude Ekern; Karen Toska; Per Knappskog et al. (1998). Strategies for the expression, purification and immunological characterization of aromatic amino acid hydroxylases. (external link)
• Torgeir Flatmark; Per Knappskog; Aurora Martinez et al. (1995). Characterization of the wild-type and mutant forms of recombinant human phenylalanine hydroxylase. (external link)
• Anne Paulus Døskeland; Per Knappskog; Aurora Martinez et al. (1995). Phosphorylation of recombinant human phenylalanine hydroxylase expressed in E.coli. (external link)
• Karen Toska; Jan Haavik; Per Knappskog (1998). Expression and purification strategies for aromatic amino acid hydroxylases. (external link)
• E Bratland; G Bredholt; Per Knappskog et al. (2005). Cellular immunity to 21-hydroxylase in patients with autoimmune Addison's disease. (external link)

Research report

• Siv Grete Bjervamoen; Hans Geir Eiken; Martin Smith et al. (2008). Populasjonsovervåkning av brunbjørn 2005-2008 : rapport for Sør-Norge, 2007. (external link)
• Hans Geir Eiken; Siv Grete Bjervamoen; Martin Smith et al. (2007). Populasjonsovervåkning av brunbjørn 2005-2008: Rapport for Sør-Trøndelag, Nord-Trøndelag, Nordland, Troms og Finnmark 2006. (external link)
• Hans Geir Eiken; Steinar Wikan; Martin Smith et al. (2006). Populasjonsovervåkning av brunbjørn 2005-2008 : Rapport for Sør-Varanger, Finnmark for 2004 og 2005. (external link)

Doctoral thesis (PhD)

• Per Knappskog (1997). Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. (external link)
• Rune Rose Tronstad; Torunn Fiskerstrand; Tom Hemming Karlsen et al. (2019). Clinical and molecular effects of guanylate cyclase C-activation. (external link)

Editorial/Leader article

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

See a complete overview of publications in Cristin.