Academic article

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• Taule-Sivertsen, Peter; Bruland, Ove; Håvik, Aril Løge et al. (2021). The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. (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)
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• Varhaug, Kristin Nielsen; Nido, Gonzalo Sanchez; Coo, Irenaeus de et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (external link)
• Håvik, Aril Løge; Bruland, Ove; Dhayalan, Dhanushan et al. (2020). Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. (external link)
• Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (external link)
• Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (external link)
• Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés et al. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. (external link)
• Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling et al. (2018). Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. (external link)
• Håvik, Aril Løge; Bruland, Ove; Aarhus, Mads et al. (2018). Screening for viral nucleic acids in vestibular schwannoma. (external link)
• Gaare, Johannes Jernqvist; Nido, Gonzalo Sanchez; Sztromwasser, Pawel Szymon et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (external link)
• Szigetvari, Peter Daniel; Muruganandam, Gopinath; Kallio, Juha et al. (2018). The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. (external link)
• Tronstad, Rune Rose; Polushina, Tatiana; Brattbakk, Hans-Richard et al. (2018). Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. (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)
• Håvik, Aril Løge; Bruland, Ove; Myrseth, Erling et al. (2017). Genetic landscape of sporadic vestibular schwannoma. (external link)
• Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (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)
• Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E. et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (external link)
• Orlova, Elizaveta M.; Sozaeva, Leila S.; Kareva, Maria A. et al. (2017). Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.. (external link)
• Macia, Maxence S.; Halbritter, Jan; Delous, Marion et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (external link)
• Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie 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)
• Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• Lozić, Bernarda; Johansson, Stefan; Kojundzic, Sanja Lovric et al. (2016). Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. (external link)
• Vetti, Hildegunn Høberg; Bjorvatn, Cathrine; Fiane, Bent et al. (2016). BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. (external link)
• Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils et al. (2016). A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. (external link)
• Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar et al. (2015). Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. (external link)
• Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni et al. (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. (external link)
• Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (external link)
• Oftedal, Bergithe Eikeland; Hellesen, Alexander; Erichsen, Martina Moter et al. (2015). Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. (external link)
• Aarnes, Siv; Hagen, Snorre; Andreassen, Rune 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)
• Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (external link)
• Haarr, Lars; Nilsen, Arvid E; Knappskog, Per 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)
• Rainger, Joe; Pehlivan, Davut; Johansson, Stefan et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
• Fossbakk, Agnete; Kleppe, Rune; Knappskog, Per et al. (2014). Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia. (external link)
• Heimdal, Ketil Riddervold; Guixe, Monica Sanchez; Aukrust, Ingvild et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (external link)
• Melone, M; Pellegrino, M; Nolano, M et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.. (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)
• Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek et al. (2013). Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. (external link)
• Mavroconstanti, Thegna; Johansson, Stefan; Winge, Ingeborg et al. (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. (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)
• Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar 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)
• Bratland, Eirik; Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe 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)
• Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (external link)
• Andreassen, Rune; Schregel, Julia; Kopatz, Alexander et al. (2012). A forensic DNA profiling system for Northern European brown bears (Ursus arctos). (external link)
• Brønstad, Ingeborg; Wolff, Anette Susanne Bøe; Løvås, Kristian et al. (2011). Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. (external link)
• Reif, Andreas; Nguyen, T. Trang; Weissflog, Lena et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (external link)
• Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M. et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (external link)
• Halmøy, Anne; Johansson, Stefan; Winge, Ingeborg et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (external link)
• Yamazaki, Masanori; Kosho, Tomoki; Kawachi, Shigeo 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)
• Aarhus, Mads; Helland, Christian Andre; Lund-Johansen, Morten et al. (2010). Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. (external link)
• Johansson, Stefan; Halmøy, Anne; Mavroconstanti, Thegna 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)
• Christensen, Anne Elisabeth; Knappskog, Per Morten; Midtbø, Marit et al. (2010). Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. (external link)
• Aarhus, Mads; Sætran, Hege Aase; Mørk, Sverre 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)
• Hahn, Angelika F.; Waaler, Per Erik; Kvistad, Per Helge et al. (2010). Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. (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)
• Fiskerstrand, Torunn; Houge, Gunnar; Sund, Bjørn Ståle et al. (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (external link)
• Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• Landaas, Elisabeth Thoverud; Johansson, Stefan; Jacobsen, Kaya Kvarme et al. (2010). An international multicenter association study of the serotonin transporter gene in 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)
• Sánchez-Mora, Cristina; Ribases, Marta; Ramos-Quiroga, Josep Antonio et al. (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. (external link)
• Arcos-Burgos, Mauricio; Jain, Mahim; Acosta, Maria T. et al. (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (external link)
• Christensen, Anne Elisabeth; Knappskog, Per Morten; Boman, Helge et al. (2010). A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. (external link)
• Bredrup, Cecilie; Stang, Espen; Bruland, Ove et al. (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (external link)
• Bruland, Ove; Fluge, Øystein; Akslen, Lars A. et al. (2009). Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas. (external link)
• Mckinney, Jeffrey Alan; Turel, Banu; Winge, Ingeborg et al. (2009). Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. (external link)
• Bratland, Eirik; Bredholt, Geir; Mellgren, Gunnar 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)
• Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek et al. (2009). A novel Refsum-like disorder that maps to chromosome 20. (external link)
• Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan 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)
• Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Ribases, Marta; Bosch, Rosa; Hervas, Amaia 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)
• Wibom, Carl; Mörén, Lina; Aarhus, Mads et al. (2009). Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype. (external link)
• Torkildsen, Øivind Fredvik; Knappskog, Per; Nyland, Harald Inge et al. (2008). Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. (external link)
• Magitta, Ng'weina Francis; Pura, Mikulás; Wolff, Anette Susanne Bøe et al. (2008). Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (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)
• Johansson, Stefan; Halleland, Helene; Halmøy, Anne 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)
• Cichon, Sven; Winge, Ingeborg; Mattheisen, Manuel 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)
• Magitta, Ng’weina Francis; Bøe, AS; Johansson, S et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (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)
• Wolff, Anette Susanne Bøe; Oftedal, Bergithe Eikeland; Johansson, Stefan et al. (2008). AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (external link)
• Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per et al. (2008). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. (external link)
• Wolff, Anette Susanne Bøe; Erichsen, Martina Moter; Meager, Anthony et al. (2007). Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (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)
• Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per et al. (2006). Characterization og wild-type and mutant forms of human trytopan hydroxylase 2. (external link)
• Hahn, AF; Jones, D.L; Knappskog, Per et al. (2006). Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. (external link)
• Rousseau, François; Gauchat, Jean-François; McLeod, James G. 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)
• 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)
• Bredholt, Geir; Storstein, Anette Margrethe; Haugen, Monica et al. (2006). Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. (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)
• McKinney, J; Mckinney, Jeffrey Alan; Knappskog, Per et al. (2004). Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. (external link)
• Myhre, Anne Grethe; Stray-Pedersen, Asbjørg; Eide, E et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (external link)
• Myhre, Anne Grethe; Stray-Pedersen, A.; Spangen, S. et al. (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. (external link)
• Bøe, Anette Susanne; Bredholt, Geir; Knappskog, Per et al. (2004). Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1. (external link)
• Bøe, Anette Susanne; Bredholt, G.; Knappskog, Per et al. (2004). Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system. (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)
• Knappskog, Per Morten; Majewski, J; Livneh, A et al. (2003). Cold-induced sweating syndrome is caused by mutations in the CRLgene. (external link)
• Wang, Lin; Erlandsen, Heidi; Haavik, Jan et al. (2002). Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (external link)
• Miranda, Frederiko; Teigen, Knut; Thorolfsson, Matthias et al. (2002). Phosphorylation and mutations of Ser16 in human phenylalanine hydroxylase. Kinetic and structural effects. (external link)
• Krossøy, Bjørn; Devold, Magnus; Sanders, Lisette et al. (2001). Cloning and identification of the infectious salmon anaemia virus haemagglutinin. (external link)
• Gjetting, Torben; Romstad, Anne; Haavik, Jan et al. (2001). A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. (external link)
• Kleppe, Rune; Uhlemann, K; Knappskog, Per et al. (1999). Urea-induced denaturation of human phenylalanine hydroxylase. (external link)
• Ellingsen, Ståle; Knappskog, Per; Apold, Jaran et al. (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsesense (G272X, Y356X) and missense (P281L, R408Q) mutations. (external link)
• Flatmark, Torgeir; Almås, Bjørg; Knappskog, Per et al. (1999). Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity as shown by kinetic analysis and surface plasmon resonance detection. (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)
• Schünemann, V; Meier, C; Meyer-Klaucke, W 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)
• Chehin, R; Thorolfsson, Mathias; Knappskog, Per et al. (1998). Domain structure and stability of human phenylalanin hydroxylase inferred from infrared spectroscopy. (external link)
• Bjørgo, Elisa; Knappskog, Per; Martínez, Aurora et al. (1998). Expression, characterization and 3D-structural localization of eight phnylketonuria mutations in exon 7 of the human phenylalanine hydroxylase gene. (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, Aurora; Knappskog, Per et al. (1997). Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. (external link)
• Waters, P.J; Hewson, A.C; Scriver, C.R et al. (1997). Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. (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)
• Lüdecke, B.; Knappskog, Per; Clayton, P. T. et al. (1996). Recessively inherited L-DOPA-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. (external link)
• Eiken, Hans Geir; Knappskog, Per; Apold, Jaran et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora 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)
• Knappskog, Per; Flatmark, Torgeir; Aarden, J. M. 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)
• 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-specific cleavage of the fusion protein by restriction protease. (external link)
• Eiken, Hans Geir; Knappskog, Per; Guldberg, P. 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)
• Eiken, Hans Geir; Knappskog, Per; Motzfeldt, K. et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (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)
• Dianzani, I.; Knappskog, Per; Desanctis, L. et al. (1996). Novel missense mutation in the phenylalanine-hydroxylase gene leading to complete loss of enzymatic-activity. (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)
• Eiken, Hans Geir; Knappskog, Per; Apold, Jaran et al. (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (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, Per; Motzfeldt, K. et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• Eiken, Hans Geir; Knappskog, Per; Guldberg, P. 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)
• 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)
• Lüdecke, B.; Knappskog, Per; Clayton, P.T. et al. (1996). Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a poin mutation (L205P) in the tyrosine hydroxylase gene. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora 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)
• Eiken, Hans Geir; Knappskog, P.M.; Motzeldt, Kristina et al. (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. (external link)
• Olsen, T.F.; Eiken, Hans Geir; Knappskog, P.M. et al. (1996). Mutations in the Induronate 2-sulfatase gene in five Norwegians with Hunter syndrome. (external link)
• Eiken, Hans Geir; Knappskog, P.M.; Boman, H. et al. (1996). Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. (external link)
• Knappskog, Per; Flatmark, Torgeir; Mallet, J. et al. (1995). Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (external link)
• Knappskog, Per; Haavik, Jan (1995). Tryptophan fluorescence of human phenylalanine hydroxylase expressed in Escherichia coli. (external link)
• Martinez, Aurora; Knappskog, Per; Olafsdottir, S 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)
• 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)
• Knappskog, Per; Flatmark, Torgeir; Mallet, J et al. (1995). Reccessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (external link)
• Knappskog, Per; Haavik, Jan (1995). Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli. (external link)
• Dianzani, I; Knappskog, Per; Sanctis, L de et al. (1995). Novel missence mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. (external link)
• Martinez, Aurora; Knappskog, Per; Olafsdottir, S et al. (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora et al. (1994). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. (external link)
• Eiken, Hans Geir; Knappskog, Per; Apold, Jaran (1993). Restriction enzyme based assays for complete genotyping of phenylketonuria patients. (external link)
• Eiken, Hans Geir; Knappskog, Per; Apold, Jaran et al. (1992). A de novo phenylketonuria mutation: ATG(Met) to ATA(Ile) in the start codon of the phenylalanine hydroxylase gene. (external link)
• Eiken, Hans Geir; Stangeland, K.; Skjelkvåle, L. et al. (1992). PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions, and phenotype characteristics. (external link)

Poster

• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik 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)
• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik 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)
• Pakdaman, Yasaman; Austad, Eirik; Denker, Elsa et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (external link)
• Halleland, Helene; Halmøy, Anne; Fasmer, Ole Bernt et al. (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway. (external link)
• Lundstad, Anne Christine; Winge, Ingeborg; Mckinney, Jeffrey Alan et al. (2005). Expression and molecular characterization of human tryptophan hydroxylases. (external link)
• Halleland, Helene; Knappskog, Per; Fasmer, Ole Bernt et al. (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway. (external link)
• Haavik, Jan; Mckinney, Jeffrey Alan; Knappskog, Per (2004). Molecular properties of the central and peripheral forms of human tryptophan hydroxylase (TPH1 and TPH2). (external link)

Doctoral dissertation

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

Masters thesis

• Berger, Amund Holte; Johansson, Stefan; Knappskog, Per (2018). Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. (external link)
• Szigetvari, Peter Daniel; Haavik, Jan; Knappskog, Per (2015). Functional studies of tyrosine hydroxylase (TH) variants associated with DOPA responsive dystonia. (external link)
• Knappskog, Per (1992). Ekspresjon av normal og mutant human-fenylalin hydrokylase i Escherichia coli. (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)
• Ramagopalan, Sreeram V; Hanwell, Heather EC; Giovannoni, Gavin et al. (2010). Vitamin D-Dependent Rickets, HIA-DRB1, and the Risk of Multiple Sclerosis. (external link)
• Mckinney, Jeffrey; Johansson, Stefan; Halmøy, Anne et al. (2008). A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. (external link)

Academic literature review

• Schregel, Julia; Kopatz, Alexander; Hagen, Snorre 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)
• Aarhus, Mads; Lund-Johansen, Morten; Knappskog, Per (2011). Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies. (external link)
• Mavroconstanti, Thegna; Winge, Ingeborg; Kinney, Jeffrey Alan Mc et al. (2010). Functional studies of candidate genes involved in ADHD. (external link)

Academic chapter/article/Conference paper

• Aubi, Oscar; Knappskog, Per; Martinez, Aurora (2012). Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases. (external link)
• Rødahl, Eyvind; Christensen, Anne Elisabeth; Fiskerstrand, Torunn et al. (2012). ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae. (external link)
• Flatmark, Torgeir; Knappskog, Per (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. (external link)
• Flatmark, Torgeir; Knappskog, Per (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. (external link)
• Flatmark, Torgeir; Knappskog, Per; Bjørgo, Elisa et al. (1997). Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. (external link)
• Flatmark, Torgeir; Knappskog, Per; Bjørgo, Elisa et al. (1997). Molecular (-en 1) characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora et al. (1993). Expression of wild type and mutant forms of human phenylalanine hydroxylase in E.Coli. (external link)
• Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora et al. (1993). Expression of recombinant wild type and mutant forms of human phenylalanine hydroxylase in E. coli. (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)
• Eiken, Hans Geir; Bjervamoen, Siv Grete; Smith, Martin et al. (2007). Populasjonsovervåkning av brunbjørn 2005-2008: Rapport for Sør-Trøndelag, Nord-Trøndelag, Nordland, Troms og Finnmark 2006. (external link)
• Eiken, Hans Geir; Wikan, Steinar; Smith, Martin et al. (2006). Populasjonsovervåkning av brunbjørn 2005-2008 : Rapport for Sør-Varanger, Finnmark for 2004 og 2005. (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)
• Bratland, E; Bredholt, G; Knappskog, Per et al. (2005). Cellular immunity to 21-hydroxylase in patients with autoimmune Addison's disease. (external link)
• Boman, Helge; Løvlie, Roger; Knappskog, Per (1998). Three new FHH mutations and eight genetic variants in the calcium sensing receptor (CASR) gene. (external link)
• Toska, Karen; Haavik, Jan; Knappskog, Per (1998). Expression and purification strategies for aromatic amino acid hydroxylases. (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)
• Kleppe, Rune; Knappskog, Per; Haavik, Jan (1998). Thermodynamic stability of human phenylalanine hydroxylase. (external link)
• Waters, P.J.; Hewson, A.S.; Scriver, C.R. et al. (1996). Comparative analysis of phenylalanine hydroxylase (PAH) A104D mutant, associated with variant phenylketonuria (PKU) and wild-type enzyme. (external link)
• Flatmark, Torgeir; Knappskog, Per; Martinez, Aurora et al. (1995). Characterization of the wild-type and mutant forms of recombinant human phenylalanine hydroxylase. (external link)
• Døskeland, Anne Paulus; Knappskog, Per; Martinez, Aurora et al. (1995). Phosphorylation of recombinant human phenylalanine hydroxylase expressed in E.coli. (external link)

See a complete overview of publications in Cristin.