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Per Morten Knappskog's picture

Per Morten Knappskog

Professor
  • E-mailPer.Knappskog@uib.no
  • Phone+47 55 97 54 95
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
    5009 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Show author(s) (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. Familial Cancer.
  • Show author(s) (2021). The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. Journal of Neuro-Oncology. 35-40.
  • Show author(s) (2021). Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease. Journal of the Endocrine Society (JES). 1-10.
  • Show author(s) (2021). Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma. Acta Neurochirurgica. 1-10.
  • Show author(s) (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. International Journal of Molecular Sciences.
  • Show author(s) (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nature Communications. 1-14.
  • Show author(s) (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. Frontiers in Molecular Neuroscience. 1-19.
  • Show author(s) (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology. 1318-1326.
  • Show author(s) (2020). The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? European Journal of Human Genetics. 1078-1086.
  • Show author(s) (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. Neuropsychopharmacology. 1617-1626.
  • Show author(s) (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. European Journal of Human Genetics. 205-215.
  • Show author(s) (2020). Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. Journal of Neuro-Oncology. 373-381.
  • Show author(s) (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica. 1-14.
  • Show author(s) (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational Psychiatry. 1-9.
  • Show author(s) (2018). The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. Journal of Neurochemistry. 291-306.
  • Show author(s) (2018). Screening for viral nucleic acids in vestibular schwannoma. Journal of Neurovirology. 730-737.
  • Show author(s) (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders. 1591-1600.
  • Show author(s) (2018). Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology. 1264-1273.
  • Show author(s) (2018). Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. Journal of Clinical Endocrinology and Metabolism (JCEM). 179-186.
  • Show author(s) (2018). Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. . Clinical Case Reports.
  • Show author(s) (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
  • Show author(s) (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 323-333.
  • Show author(s) (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 1-12.
  • Show author(s) (2017). Genetic landscape of sporadic vestibular schwannoma. Journal of Neurosurgery. 911-922.
  • Show author(s) (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
  • Show author(s) (2017). Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. Journal of Pediatric Endocrinology & Metabolism (JPEM). 3546-3556.
  • Show author(s) (2017). BRCA testing by single-molecule molecular inversion probes. Clinical Chemistry. 503-512.
  • Show author(s) (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica. 240-246.
  • Show author(s) (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE.
  • Show author(s) (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
  • Show author(s) (2016). BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. European Journal of Human Genetics. 881-888.
  • Show author(s) (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
  • Show author(s) (2016). A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. Journal of Clinical Endocrinology and Metabolism (JCEM). 2975-2983.
  • Show author(s) (2015). Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. Forensic Science International: Genetics. 197-204.
  • Show author(s) (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 973-979.
  • Show author(s) (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America.
  • Show author(s) (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLOS ONE. 17 pages.
  • Show author(s) (2015). Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases. 1-17.
  • Show author(s) (2015). Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 1185-1196.
  • Show author(s) (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science. 2909-2915.
  • Show author(s) (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. BMC Infectious Diseases.
  • Show author(s) (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases.
  • Show author(s) (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 358-362.
  • Show author(s) (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 915-923.
  • Show author(s) (2014). Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia. Human Mutation. 880-890.
  • Show author(s) (2013). Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 946-953.
  • Show author(s) (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLOS ONE. 5 pages.
  • Show author(s) (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. Brain & development (Tokyo. 1979). 596-601.
  • Show author(s) (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 pages.
  • Show author(s) (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLOS ONE. 9 pages.
  • Show author(s) (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal of Bone and Mineral Research. 1378-1385.
  • Show author(s) (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. Immunobiology. 899-909.
  • Show author(s) (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 1586-1595.
  • Show author(s) (2012). Exome sequencing and genetic testing for MODY. PLOS ONE. 8 pages.
  • Show author(s) (2012). A forensic DNA profiling system for Northern European brown bears (Ursus arctos). Forensic Science International: Genetics. 798-809.
  • Show author(s) (2011). Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. BMC Medical Genetics. 6 pages.
  • Show author(s) (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. Neuropsychopharmacology. 2318-2327.
  • Show author(s) (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 634-643.
  • Show author(s) (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
  • Show author(s) (2010). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 656-664.
  • Show author(s) (2010). Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. Cerebrospinal Fluid Research. 8 pages.
  • Show author(s) (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. American Journal of Medical Genetics. 512-523.
  • Show author(s) (2010). Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation. Experimental Neurology. 424-428.
  • Show author(s) (2010). Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 125-131.
  • Show author(s) (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. Neurosurgery. 998-1019.
  • Show author(s) (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science. 5578-5582.
  • Show author(s) (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. American Journal of Medical Genetics. 1008-1015.
  • Show author(s) (2010). Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. Journal of the Neurological Sciences. 68-75.
  • Show author(s) (2010). Cold-induced sweating syndrome with neonatal features of crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. American Journal of Medical Genetics. 764-769.
  • Show author(s) (2010). Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. Investigative Ophthalmology and Visual Science. 47-52.
  • Show author(s) (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Archives of General Psychiatry. 1033-1043.
  • Show author(s) (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes, Brain and Behavior. 449-458.
  • Show author(s) (2010). A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Investigative Ophthalmology and Visual Science. 6369-6373.
  • Show author(s) (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Molecular Psychiatry. 1053-1066.
  • Show author(s) (2009). The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease. Journal of Autoimmunity. 58-67.
  • Show author(s) (2009). Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype. Journal of Neuro-Oncology. 321-331.
  • Show author(s) (2009). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 656-664.
  • Show author(s) (2009). Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas. BMC Cancer. 425.
  • Show author(s) (2009). Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. Human Mutation. 787-794.
  • Show author(s) (2009). Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biological Psychiatry. 926-934.
  • Show author(s) (2009). A novel Refsum-like disorder that maps to chromosome 20. Neurology. 20-27.
  • Show author(s) (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 120-124.
  • Show author(s) (2008). Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. Archives of Neurology. 809-811.
  • Show author(s) (2008). Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomas. Journal of Neuro-Oncology. 251-259.
  • Show author(s) (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. American Journal of Medical Genetics. 1470-1475.
  • Show author(s) (2008). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. Journal of Neurochemistry. 1648-1657.
  • Show author(s) (2008). Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5 '-region are associated with bipolar affective disorder. Human Molecular Genetics. 87-97.
  • Show author(s) (2008). Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. European Journal of Endocrinology (EJE). 705-709.
  • Show author(s) (2008). Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Biochemical Journal. 195-204.
  • Show author(s) (2008). AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes and Immunity. 130-136.
  • Show author(s) (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity.
  • Show author(s) (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. Biochemical and Biophysical Research Communications - BBRC. 692-698.
  • Show author(s) (2007). Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. Journal of Neurochemistry. 1648-1657.
  • Show author(s) (2007). Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. Journal of Clinical Endocrinology and Metabolism (JCEM). 595-603.
  • Show author(s) (2006). Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. Proceedings of the National Academy of Sciences of the United States of America. 10068-10073.
  • Show author(s) (2006). Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. Scandinavian Journal of Immunology. 325-335.
  • Show author(s) (2006). Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. Journal of Neurological Sciences. 62-70.
  • Show author(s) (2006). Characterization og wild-type and mutant forms of human trytopan hydroxylase 2. Journal of Neurochemistry. 10 pages.
  • Show author(s) (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 520-521.
  • Show author(s) (2005). Different properties of the central and peripheral forms of human tryptophan hydroxylase. Journal of Neurochemistry. 311-320.
  • Show author(s) (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 420-426.
  • Show author(s) (2004). Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system. British Journal of Cancer. 1508-1514.
  • Show author(s) (2004). One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism. BioTechniques. 906-+.
  • Show author(s) (2004). Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. Protein Expression and Purification. 185-194.
  • Show author(s) (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. European Journal of Pediatrics. 604-611.
  • Show author(s) (2004). Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. European Journal of Pediatrics. 604-611.
  • Show author(s) (2004). Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1. European Journal of Endocrinology (EJE). 49-56.
  • Show author(s) (2003). Cold-induced sweating syndrome is caused by mutations in the CRLgene. American Journal of Human Genetics. 375-383.
  • Show author(s) (2002). Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry. 12569-12574.
  • Show author(s) (2002). Phosphorylation and mutations of Ser16 in human phenylalanine hydroxylase. Kinetic and structural effects. Journal of Biological Chemistry. 40937-40943.
  • Show author(s) (2001). Cloning and identification of the infectious salmon anaemia virus haemagglutinin. Journal of General Virology. 1757-1765.
  • Show author(s) (2001). A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. Molecular Genetics and Metabolism. 280-284.
  • Show author(s) (1999). Urea-induced denaturation of human phenylalanine hydroxylase. Journal of Biological Chemistry. 33251-33258.
  • Show author(s) (1999). Urea-induced denaturation of human phenylalanine hydroxylase. Journal of Biological Chemistry. 33251-33258.
  • Show author(s) (1999). Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity as shown by kinetic analysis and surface plasmon resonance detection. European Journal of Biochemistry (EJB). 1-11.
  • Show author(s) (1999). Iron coordination geometry in full-length, truncated, and dehydrated forms of human tyrosine hydroxylase studied by Mossbauer and X-ray spectroscopy. JBIC Journal of Biological Inorganic Chemistry. 223-231.
  • Show author(s) (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsesense (G272X, Y356X) and missense (P281L, R408Q) mutations. FEBS Letters. 505-508.
  • Show author(s) (1999). Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations. FEBS Letters. 505-508.
  • Show author(s) (1998). Expression, characterization and 3D-structural localization of eight phnylketonuria mutations in exon 7 of the human phenylalanine hydroxylase gene. European Journal of Biochemistry (EJB). 1-10.
  • Show author(s) (1998). Domain structure and stability of human phenylalanin hydroxylase inferred from infrared spectroscopy. FEBS Letters. 225-230.
  • Show author(s) (1997). Effect of mutations at cys 237 on the activation state and activity of human phenylalanine hydroxylase. FEBS Letters. 7-11.
  • Show author(s) (1997). Effect of mutations at Cys 237 on the activation state and activity of human phenylalanine hydroxylase. FEBS Letters. 7-11.
  • Show author(s) (1997). Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. FEBS Letters. 171-174.
  • Show author(s) (1997). Crystallization and preliminary crystallographic studies of a truncated recombinant form of human phenylalanine hydroxylase. FEBS Letters. 171-174.
  • Show author(s) (1997). Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. Biochemical Society Transactions. S362.
  • Show author(s) (1996). Structure-function relationship in human phenylalanine hydroxylase . Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme. European Journal of Biochemistry (EJB). 813-821.
  • Show author(s) (1996). Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway. European Journal of Human Genetics. 205-213.
  • Show author(s) (1996). Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. European Journal of Human Genetics. 205-213.
  • Show author(s) (1996). Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a poin mutation (L205P) in the tyrosine hydroxylase gene. Human Molecular Genetics. 1023-1028.
  • Show author(s) (1996). Recessively inherited L-DOPA-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Human Molecular Genetics. 1023-1028.
  • Show author(s) (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. The Biochemical journal. 409-414.
  • Show author(s) (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. The Biochemical journal. 409-414.
  • Show author(s) (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. Biochemical Journal. 409-414.
  • Show author(s) (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 154-160.
  • Show author(s) (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 554-560.
  • Show author(s) (1996). Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 554-560.
  • Show author(s) (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Human Mutation. 228-238.
  • Show author(s) (1996). PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Human Mutation. 228-238.
  • Show author(s) (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. Human Mutation. 236-246.
  • Show author(s) (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. Human Mutation. 236-246.
  • Show author(s) (1996). Novel missense mutation in the phenylalanine-hydroxylase gene leading to complete loss of enzymatic-activity. Human Mutation. 247-249.
  • Show author(s) (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 198-203.
  • Show author(s) (1996). Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 198-203.
  • Show author(s) (1996). Mutations in the Induronate 2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 198-203.
  • Show author(s) (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. Human Mutation. 19-22.
  • Show author(s) (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. Human Mutation. 19-22.
  • Show author(s) (1995). Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli. Biochemistry. 11790-11799.
  • Show author(s) (1995). Tryptophan fluorescence of human phenylalanine hydroxylase expressed in Escherichia coli. Biochemistry. 11790-11799.
  • Show author(s) (1995). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. Hum Genet. 171-173.
  • Show author(s) (1995). Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Human Molecular Genetics. 1209-1212.
  • Show author(s) (1995). Reccessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Molec Genet. 1209-1212.
  • Show author(s) (1995). Novel missence mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. Human Mutation. 247-249.
  • Show author(s) (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. Biochemical Journal. 589-597.
  • Show author(s) (1995). Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Biochemical Journal. 589-597.
  • Show author(s) (1994). The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. Hum Genet. 171-173.
  • Show author(s) (1993). Restriction enzyme based assays for complete genotyping of phenylketonuria patients. Developmental Brain Dysfunction. 53-59.
  • Show author(s) (1992). PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions, and phenotype characteristics. Hum Genet. 608-612.
  • Show author(s) (1992). A de novo phenylketonuria mutation: ATG(Met) to ATA(Ile) in the start codon of the phenylalanine hydroxylase gene. Hum Mut. 388-391.
Report
  • Show author(s) (2008). Populasjonsovervåkning av brunbjørn 2005-2008 : rapport for Sør-Norge, 2007. 52. 52. .
Academic lecture
  • Show author(s) (2005). Variable expression of FKBP51 in Addison's Disease - a parameter of glucocorticoid sensitivity ?
  • Show author(s) (2005). Cellular immunity to 21-hydroxylase in patients with autoimmune Addison's disease.
  • Show author(s) (1998). Three new FHH mutations and eight genetic variants in the calcium sensing receptor (CASR) gene.
  • Show author(s) (1998). Thermodynamic stability of human phenylalanine hydroxylase.
  • Show author(s) (1998). Strategies for the expression, purification and immunological characterization of aromatic amino acid hydroxylases.
  • Show author(s) (1998). Expression and purification strategies for aromatic amino acid hydroxylases.
  • Show author(s) (1996). Comparative analysis of phenylalanine hydroxylase (PAH) A104D mutant, associated with variant phenylketonuria (PKU) and wild-type enzyme.
  • Show author(s) (1995). Phosphorylation of recombinant human phenylalanine hydroxylase expressed in E.coli.
  • Show author(s) (1995). Characterization of the wild-type and mutant forms of recombinant human phenylalanine hydroxylase.
Editorial
  • Show author(s) (2010). Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. Neurology. 1567-1569.
Reader opinion piece
  • Show author(s) (2010). Vitamin D-Dependent Rickets, HIA-DRB1, and the Risk of Multiple Sclerosis. Archives of Neurology. 1034-1035.
  • Show author(s) (2008). A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Molecular Psychiatry. 365-367.
Letter to the editor
  • Show author(s) (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain. e16-e16.
Doctoral dissertation
  • Show author(s) (2019). Clinical and molecular effects of guanylate cyclase C-activation.
  • Show author(s) (1997). Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. -.
Academic chapter/article/Conference paper
  • Show author(s) (2012). Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases. 14 pages.
  • Show author(s) (2012). ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae.
  • Show author(s) (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. 10 pages.
  • Show author(s) (1998). Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. 10 pages.
  • Show author(s) (1997). Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. 6 pages.
  • Show author(s) (1997). Molecular (-en 1) characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. 1 pages.
  • Show author(s) (1993). Expression of wild type and mutant forms of human phenylalanine hydroxylase in E.Coli. 13 pages.
  • Show author(s) (1993). Expression of recombinant wild type and mutant forms of human phenylalanine hydroxylase in E. coli.
Abstract
  • Show author(s) (2013). Dominant Inheritance in Autoimmune Endocrine Syndrome Type 1. Scandinavian Journal of Immunology. 306-307.
  • Show author(s) (2013). Characterisation of the CYP21A2 Gene in Patients with Autoimmune Addison's Disease. Scandinavian Journal of Immunology. 310-310.
  • Show author(s) (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 680-680.
  • Show author(s) (2010). FUNCTIONAL STUDIES OF DISEASE-RELATED VARIANTS IN HUMAN TRYPTOPHAN HYDROXYLASE 1 AND 2. The Journal of Inherited Metabolic Disease (JIMD). S165-S165.
  • Show author(s) (2009). From synthesis to uptake - serotonergic genes in adult ADHD. European Neuropsychopharmacology. S186-S186.
  • Show author(s) (2007). Epitope mapping of human aromatic L-amino acid decarboxylase. Scandinavian Journal of Immunology. 592-592.
  • Show author(s) (2005). Effects of mutations in human tryptophan hydroxylases associated with altered monoaminergic neurotransmission. Journal of Neurochemistry.
  • Show author(s) (2005). Biochemical characterization of mutant aromatic amino acid hydroxylases implicated in psychiatric disorders. American Journal of Medical Genetics.
Poster
  • Show author(s) (2020). Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.
  • Show author(s) (2020). Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.
  • Show author(s) (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration.
  • Show author(s) (2005). Expression and molecular characterization of human tryptophan hydroxylases.
  • Show author(s) (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway.
  • Show author(s) (2005). A Nation-wide Bio-bank of blood samples from adult ADHD patients in Norway.
  • Show author(s) (2004). Molecular properties of the central and peripheral forms of human tryptophan hydroxylase (TPH1 and TPH2).
Academic literature review
  • Show author(s) (2012). Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east–west border population in the Pasvik Valley. Molecular Ecology. 3474-3488.
  • Show author(s) (2011). Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies. Acta Neurochirurgica. 447-456.
  • Show author(s) (2010). Functional studies of candidate genes involved in ADHD. European Psychiatric Review. 44-46.

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