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Per Knappskog

Professor
  • E-mailPer.Knappskog@uib.no
  • Phone+47 55 97 54 95
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Journal articles
  • Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling; Landegren, Nils; Bianchi, Matteo; Hallgren, Åsa; Dahlqvist, Per; Wahlberg, Jeanette; Ekwall, Olov; Winqvist, Ola; Catrina, Sergiu-Bogdan; Rönnelid, Johan; Hulting, Anna-Lena; Lindblad-Toh, Kerstin; Alimohammadi, Mohammad; Husebye, Eystein Sverre; Knappskog, Per; Pielberg, Gerli Rosengren; Bensing, Sophie; Kämpe, Olle. 2018. Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. Journal of Clinical Endocrinology and Metabolism. 103: 179-186. doi: 10.1210/jc.2017-01957
  • Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos. 2018. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain. 141: e16-e16. doi: 10.1093/brain/awx378
  • Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Maple-Grødem, Jodi; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos. 2018. Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders. 33: 1591-1600. doi: 10.1002/mds.64
  • Håvik, Aril Løge; Bruland, Ove; Aarhus, Mads; Kalland, Karl-Henning; Stokowy, Tomasz; Lund-Johansen, Morten; Knappskog, Per. 2018. Screening for viral nucleic acids in vestibular schwannoma. Journal of Neurovirology. 24: 730-737. doi: 10.1007/s13365-018-0669-6
  • Szigetvari, Peter Daniel; Muruganandam, Gopinath; Kallio, Juha; Hallin, Erik Ingmar; Fossbakk, Agnete; Loris, Remy; Kursula, Inari; Møller, Lisbeth Birk; Knappskog, Per; Kursula, Petri; Haavik, Jan. 2018. The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. Journal of Neurochemistry. 148: 291-306. doi: 10.1111/jnc.14624
  • Tronstad, Rune Rose; Polushina, Tatiana; Brattbakk, Hans-Richard; Stansberg, Christine; Volkmann, Hilde Løland Von; Hanevik, Kurt; Ellinghaus, Eva; Jørgensen, Silje Fjellgård; Ersland, Kari Merete; Pham, Khanh Do-Cong; Gilja, Odd Helge; Hovdenak, Nils; Hausken, Trygve; Vatn, Morten H; Franke, Andre; Knappskog, Per; Le Hellard, Stephanie; Karlsen, Tom Hemming; Fiskerstrand, Torunn. 2018. Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology. 53: 1264-1273. doi: 10.1080/00365521.2018.1521867
  • Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence. 2017. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLoS ONE. 12:e0169309: 1-10. doi: 10.1371/journal.pone.0169309
  • Håvik, Aril Løge; Bruland, Ove; Myrseth, Erling; Miletic, Hrvoje; Aarhus, Mads; Knappskog, Per; Lund-Johansen, Morten. 2017. Genetic landscape of sporadic vestibular schwannoma. Journal of Neurosurgery. 128: 911-922. doi: 10.3171/2016.10.JNS161384
  • Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Christensen, Anne Elisabeth; Leh, Sabine Maria; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackman, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre. 2017. Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 100: 323-333. doi: 10.1016/j.ajhg.2016.12.011
  • Neveling, Kornelia; Mensenkamp, Arjen R.; Derks, Ronny; Kwint, Michael; Ouchene, Hicham; Steehouwer, Marloes; Lier, Bart Van; Bosgoed, Ermanno; Rikken, Alwin; Tychon, Marloes; Zafeiropoulou, Dimitra; Castelein, Steven; Hehir-Kwa, Jayne; Thung, Djie Tjwan; Hofste, Tom; Lelieveld, Stefan H.; Bertens, Stijn M.M.; Adan, Ivo B.J.F.; Eijkelenboom, Astrid; Tops, Bastiaan B.; Yntema, Helger; Stokowy, Tomasz; Knappskog, Per; Vetti, Hildegunn Høberg; Steen, Vidar Martin; Boyle, Evan; Martin, Beth; Ligtenberg, Marjolijn J.L.; Shendure, Jay; Nelen, Marcel R.; Hoischen, Alexander. 2017. BRCA testing by single-molecule molecular inversion probes. Clinical Chemistry. 63: 503-512. doi: 10.1373/clinchem.2016.263897
  • Orlova, Elizaveta M.; Sozaeva, Leila S.; Kareva, Maria A.; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Zakharova, Ekaterina Y.; Ivanova, Olga N.; Kämpe, Olle; Dedov, Ivan I.; Knappskog, Per; Peterkova, Valentina A.; Husebye, Eystein Sverre. 2017. Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. Journal of Pediatric Endocrinology & Metabolism (JPEM). 102: 3546-3556. doi: 10.1210/jc.2017-00139
  • Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild. 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 37: 1-12. doi: 10.1042/BSR20170251
  • Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence. 2017. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 16: 272-275. doi: 10.1007/s12311-016-0784-y
  • Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per. 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. 95: 240-246. doi: 10.1111/aos.13273
  • Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel Szymon; Fernandez-Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D'Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per; Zeviani, Massimo; Bindoff, Laurence. 2016. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 8: 176-190. doi: 10.15252/emmm.201505894
  • Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre. 2016. A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. Journal of Clinical Endocrinology and Metabolism. 101: 2975-2983. doi: 10.1210/jc.2016-1821
  • Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer; Dölle, Christian; Lykouri, Maria; Schwarzlmüller, Thomas; Jonassen, Inge; Miletic, Hrvoje; Johansson, Stefan; Knappskog, Per; Bindoff, Laurence; Tzoulis, Charalampos. 2016. Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLoS ONE. 11. doi: 10.1371/journal.pone.0149055
  • Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence. 2016. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 23: 1188-1194. doi: 10.1111/ene.13003
  • Lozić, Bernarda; Johansson, Stefan; Lovric Kojundzic, Sanja; Markić, Joško; Knappskog, Per; Hahn, Angelika F.; Boman, Helge. 2016. Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Annals of clinical and translational neurology. 3: 876-883. doi: 10.1002/acn3.362
  • Vetti, Hildegunn Høberg; Bjorvatn, Cathrine; Fiane, Bent; Aas, Turid; Woie, Kathrine; Espelid, Helge; Eikesdal, Hans Petter; Listøl, Wenche; Haavind, Marianne Tveit; Knappskog, Per; Rusken, Tone; Haukanes, Bjørn Ivar; Steen, Vidar Martin; Hoogerbrugge, Nicoline. 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. 24: 881-888. doi: 10.1038/ejhg.2015.196
  • Aarnes, Siv; Hagen, Snorre; Andreassen, Rune; Schregel, Julia; Knappskog, Per; Hailer, Frank; Stenhouse, Gordon; Janke, Axel; Eiken, Hans Geir. 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. 19: 197-204. doi: 10.1016/j.fsigen.2015.07.018
  • Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence; Sztromwasser, Pawel Szymon; Kråkenes, Jostein; Christensen, Anne Elisabeth; Brurås, Kari Røine; Lind, Ola; Boman, Helge; Knappskog, Per; Rødahl, Eyvind. 2015. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 159: 973-979. doi: 10.1016/j.ajo.2015.01.021
  • Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni; Saraste, Jaakko; Schönheit, Jürgen; Bredrup, Cecilie; Knappskog, Per; Rødahl, Eyvind. 2015. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science. 56: 2909-2915. doi: 10.1167/iovs.14-16014
  • Oftedal, Bergithe Eikeland; Hellesen, Alexander; Erichsen, Martina Moter; Bratland, Eirik; Vardi, Ayelet; Perheentupa, Jaakko; Kemp, E. Helen; Fiskerstrand, Torunn; Viken, Marte K; Weetman, Anthony P.; Fleishman, Sarel J.; Banka, Siddharth; Newman, William G.; Sewell, William A. Carrock; Sozaeva, Leila S.; Zayats, Tetyana; Haugarvoll, Kristoffer; Orlova, Elizaveta M.; Haavik, Jan; Johansson, Stefan; Knappskog, Per; Løvås, Kristian; Wolff, Anette Susanne Bøe; Abramson, Jakub; Husebye, Eystein Sverre. 2015. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 42: 1185-1196. doi: 10.1016/j.immuni.2015.04.021
  • Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per; Müller, Bernd; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Bindoff, Laurence; Johansson, Stefan; Haugarvoll, Kristoffer. 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. 18:E2268. doi: 10.1073/pnas.1503105112
  • Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn; Knappskog, Per; Berge, Tone; Tallaksen, Chantal. 2015. Friedreich ataxia in Norway - An epidemiological, molecular and clinical study. Orphanet Journal of Rare Diseases. 10: 1-17. doi: 10.1186/s13023-015-0328-4
  • Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Djurovic, Srdjan; Westlye, Lars Tjelta; Tamnes, Christian Krog; Fladby, Tormod; Aase, Heidi; Zeiner, Pål; Reichborn-Kjennerud, Ted; Knappskog, Per; Knudsen, Gun Peggy; Andreassen, Ole Andreas; Johansson, Stefan; Haavik, Jan. 2015. Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLoS ONE. 10. 17 pages. doi: 10.1371/journal.pone.0122501
  • Fossbakk, Agnete; Kleppe, Rune; Knappskog, Per; Martinez, Aurora; Haavik, Jan. 2014. Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia. Human Mutation. 35: 880-890. doi: 10.1002/humu.22565
  • Haarr, Lars; Nilsen, Arvid E; Knappskog, Per; Langeland, Nina. 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. 14. doi: 10.1186/1471-2334-14-63
  • Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi; Karlsen, Bjørn; Engelsen, Bernt; Knappskog, Per; Bindoff, Laurence. 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 261: 358-362. doi: 10.1007/s00415-013-7203-9
  • Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg; ERICHSEN, ANNE KJERSTI; Gude, Einar; Koht, Jeanette; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal; Knappskog, Per; Johansson, Stefan. 2014. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases. 9:146. doi: 10.1186/s13023-014-0146-0
  • Melone, M; Pellegrino, M; Nolano, M; Habecker, B A; Johansson, Stefan; Nathanson, NM; Knappskog, Per; Hahn, AF; Boman, Helge. 2014. Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. Annals of clinical and translational neurology. 1: 926-932. doi: 10.1002/acn3.126
  • Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A.B.; Prescon, Trine; Anderson, Carl A.; Rainger, Jacqueline; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; Fitzpatrick, David R. 2014. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 94: 915-923. doi: 10.1016/j.ajhg.2014.05.005
  • Bratland, Eirik; Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Ekern, Trude; Knappskog, Per; Kämpe, Olle; Haavik, Jan; Husebye, Eystein Sverre. 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. 218: 899-909. doi: 10.1016/j.imbio.2012.10.006
  • Brønstad, Ingeborg; Skinningsrud, Beate; Wolff, Anette Susanne Bøe; Bratland, Eirik; Løvås, Kristian; Knappskog, Per; Undlien, Dag Erik; Husebye, Eystein Sverre. 2013. Characterisation of the CYP21A2 Gene in Patients with Autoimmune Addison's Disease. Scandinavian Journal of Immunology. 77: 310-310.
  • Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 pages. doi: 10.1186/1750-1172-8-1
  • Mavroconstanti, Thegna; Johansson, Stefan; Winge, Ingeborg; Knappskog, Per; Haavik, Jan. 2013. Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLoS ONE. 8. 9 pages. doi: 10.1371/journal.pone.0071445
  • Oftedal, Bergithe Eikeland; Erichsen, Martina Moter; Hellesen, Alexander; Perheentupa, Jaako; Fiskarstrand, Torunn; Knappskog, Per; Abramson, Jakub; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre. 2013. Dominant Inheritance in Autoimmune Endocrine Syndrome Type 1. Scandinavian Journal of Immunology. 77: 306-307.
  • Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine; Knappskog, Per; Carpenter, Thomas O.; Johansson, Stefan; Bjerknes, Robert. 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. 28: 1378-1385. doi: 10.1002/jbmr.1850
  • Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek; Johansson, Stefan; Telstad, Wenche; Kråkenes, Jostein; Boman, Helge. 2013. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 155: 946-953. doi: 10.1016/j.ajo.2012.11.028
  • Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE. 8. 5 pages. doi: 10.1371/journal.pone.0066145
  • Tüysüz, Behayan; Kasapçopur, Özgür; Yalçınkaya, Cengiz; Haşıloğlu, Zehra Işık; Knappskog, Per; Boman, Helge. 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). 35: 596-601. doi: 10.1016/j.braindev.2012.08.011
  • Andreassen, Rune; Schregel, Julia; Kopatz, Alexander; Tobiassen, Camilla; Knappskog, Per; Hagen, Snorre; Kleven, Oddmund; Schneider, Michael; Kojola, Ilpo; Aspi, Jouni; Rykov, Alexander M.; Tirronen, Konstantin F.; Danilov, Pjotr I.; Eiken, Hans Geir. 2012. A forensic DNA profiling system for Northern European brown bears (Ursus arctos). Forensic Science International: Genetics. 6: 798-809. Published 2012-04-06. doi: 10.1016/j.fsigen.2012.03.002
  • Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar; Tronstad, Rune Rose; Pham, Khanh Cong Do; Johansson, Stefan; Håvik, Bjarte; Tønder, Siv Lisbeth; Levy, Shawn E.; Brackman, Damien; Boman, Helge; Biswas, Kabir Hassan; Apold, Jaran; Hovdenak, Nils; Visweswariah, Sandhya S.; Knappskog, Per. 2012. Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 366: 1586-1595. doi: 10.1056/NEJMoa1110132
  • Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar; Molnes, Janne; Aerts, Jan; Roque, Francisco; Jonassen, Inge; Levy, Shawn; Lima, Kari; Knappskog, Per; Bell, Graeme I.; Molven, Anders; Njølstad, Pål Rasmus. 2012. Exome sequencing and genetic testing for MODY. PLoS ONE. 7. 8 pages. doi: 10.1371/journal.pone.0038050
  • Schregel, Julia; Kopatz, Alexander; Hagen, Snorre; Brøseth, Henrik; Smith, Martin; Wikan, Steinar; Wartiainen, Ingvild; Aspholm, Paul; Aspi, Jouni; Swenson, Jon; Makarova, O.; Polikarpova, Natalia; Schneider, Michael; Knappskog, Per; Ruokonen, Minna; Kojola, Ilpo; Tirronen, Konstantin F.; Danilov, Pjotr I.; Eiken, Hans Geir. 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. 21: 3474-3488. doi: 10.1111/j.1365-294X.2012.05631.x
  • Aarhus, Mads; Lund-Johansen, Morten; Knappskog, Per. 2011. Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies. Acta Neurochirurgica. 153: 447-456. doi: 10.1007/s00701-010-0906-0
  • Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M.; Fiskerstrand, Torunn; Hoischen, Alexander; Brackman, Damien; Leh, Sabine; Midtbø, Marit; Filhol, Emilie; Bole-Feysot, Christine; Nitschke, Patrick; Gilissen, Christian; Haugen, Olav H.; Sanders, Jan-Stephan F.; Stolte-Dijkstra, Irene; Mans, Dorus A.; Steenbergen, Eric J.; Hamel, Ben C.J.; Matignon, Marie; Pfundt, Rolph; Jeanpierre, Cécilie; Boman, Helge; Veltman, Joris A.; Rødahl, Eyvind; Knappskog, Per; Knoers, Nine V.A.M.; Roepman, Ronald; Arts, Heleen .H. 2011. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics. 89: 634-643. doi: 10.1016/j.ajhg.2011.10.001
  • Brønstad, Ingeborg; Wolff, Anette Susanne Bøe; Løvås, Kristian; Knappskog, Per; Husebye, Eystein Sverre. 2011. Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. BMC Medical Genetics. 12. 6 pages. doi: 10.1186/1471-2350-12-111
  • Reif, Andreas; Nguyen, T. Trang; Weissflog, Lena; Jacob, Christian P.; Romanos, Marcel; Renner, Tobias J.; Buttenschøn, Henriette Nørmølle; Kittel-Schneider, Sarah; Gessner, Alexandra; Weber, Heike; Neuner, Maria; Gross-Lesch, Silke; Zamzow, Karin; Kreiker, Susanne; Walitza, Susanne; Meyer, Jobst; Freitag, Christine M.; Bosch, Rosa; Casas, Miquel; Gómez, Nuria; Ribasès, Marta; Bayes, Mónica; Buitelaar, Jan K.; Kiemeney, Lambertus A.L.M.; Kooij, J.J. Sandra; Kan, Cees C.; Hoogman, Martine; Johansson, Stefan; Jacobsen, Kaya Kvarme; Knappskog, Per; Fasmer, Ole Bernt; Asherson, Philip; Warnke, Andreas; Grabe, Hans Jörgen; Mahler, Jessie; Teumer, Alexander; Völzke, Henry; Mors, Ole N.; Schäfer, Helmut; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Haavik, Jan; Franke, Barbara; Lesch, Klaus-Peter. 2011. DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. Neuropsychopharmacology. 36: 2318-2327. doi: 10.1038/npp.2011.120
  • Aarhus, Mads; Helland, Christian Andre; Lund-Johansen, Morten; Wester, Knut; Knappskog, Per Morten. 2010. Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. Cerebrospinal Fluid Research. 7. 8 pages. doi: 10.1186/1743-8454-7-6
  • Aarhus, Mads; Sætran, Hege Aase; Mørk, Sverre; Lund-Johansen, Morten; Knappskog, Per Morten. 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. 67: 998-1019. doi: 10.1227/NEU.0b013e3181ec7b71
  • Arcos-Burgos, Mauricio; Jain, Mahim; Acosta, Maria T.; Shively, Sharon Baughman; Stanescu, Horia; Wallis, David G.; Domené, Sabina; Vélez, Jorge I.; Karkera, Jayaprakash D.; Balog, Joan Z.; Berg, Karin; Kleta, Robert; Gahl, William A.; Roessler, Erich; Long, Robert; Lie, Johan; Pineda, David; Londono, Ane Cecilia; Palacio, Juan D.; Arbeláez, Andrés; Lopera, Francisco; Elia, Josephine; Hakonarson, Hakon H.; Johansson, Stefan; Knappskog, Per Morten; Haavik, Jan; Ribases, Marta; Cormand, Bru; Bayes, Mònica; Casas, Miguel; Ramos-Quiroga, Josep Antonio; Hervas, Amaia; Maher, Brion S.; Seitz, Christiane; Freitag, Christine M.; Palmason, Haukur; Meyer, Jobst; Romanos, Marcel; Walitza, Susanne; Hemminger, Uwe; Warnke, Andreas; Romanos, Jasmin; Renner, Tobias J.; Jacob, Christian; Lesch, Klaus-Peter; Swanson, James; Vortmeyer, Alexander; Bailey-Wilson, Joan E.; Castellanos, F. Xavier; Muenke, Maximillian. 2010. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Molecular Psychiatry. 15: 1053-1066. doi: 10.1038/mp.2010.6
  • Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D; Johansson, S; M'Zahem, A; Haukanes, BI; Drouot, N; Zimmermann, J; Cole, AJ; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, M; Tazir, Meriem; Klockgether, T; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Koenig, Michel; Knappskog, Per Morten. 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 20: 680-680. doi: 10.1016/j.nmd.2010.07.266
  • Bredrup, Cecilie; Stang, Espen; Bruland, Ove; Palka, Barbara P; Young, Robert D; Haavik, Jan; Knappskog, Per Morten; Rødahl, Eyvind. 2010. Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science. 51: 5578-5582. doi: 10.1167/iovs.09-4933
  • Christensen, Anne Elisabeth; Knappskog, Per Morten; Boman, Helge; Rødahl, Eyvind; Fiskerstrand, Torunn. 2010. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Investigative Ophthalmology and Visual Science. 51: 6369-6373. doi: 10.1167/iovs.10-5597
  • Christensen, Anne Elisabeth; Knappskog, Per Morten; Midtbø, Marit; Gjesdal, Clara Gram; Mengel-From, Jonas; Morling, Niels; Rødahl, Eyvind; Boman, Helge. 2010. Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. Investigative Ophthalmology and Visual Science. 51: 47-52. doi: 10.1167/iovs.09-4251
  • Di Leo, R.; Nolano, M.; Boman, H; Pierangeli, G.; Provitera, V.; Knappskog, Per Morten; Cortelli, P.; Vita, G.; Rodolico, C. 2010. Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. Neurology. 75: 1567-1569.
  • Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar. 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
  • Fiskerstrand, Torunn; Houge, Gunnar; Sund, Bjørn Ståle; Scheie, David; Leh, Sabine; Boman, Helge; Knappskog, Per Morten. 2010. Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. Journal of Molecular Diagnostics. 12: 125-131. doi: 10.2353/jmoldx.2010.090033
  • Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan; Hoogman, Martine; Romanos, Jasmin; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Casas, Miguel; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Gómez-Barros, Núria; Fernàndez-Castillo, Noèlia; Bayes, Mònica; Halmøy, Anne; Halleland, Helene; Landaas, Elisabeth Thoverud; Fasmer, Ole Bernt; Knappskog, Per Morten; Heister, Angelien J.G.A.M.; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Boonstra, A. Marije; Kan, Cees C.; Asherson, Philip; Faraone, Stephen V.; Buitelaar, Jan K.; Haavik, Jan; Cormand, Bru; Ramos-Quiroga, Josep Antonio; Reif, Andreas. 2010. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 35: 656-664. doi: 10.1038/npp.2009.170
  • Hahn, Angelika F.; Waaler, Per Erik; Kvistad, Per Helge; Bamforth, John S.; Miles, Judith H.; McLeod, James G.; Knappskog, Per Morten; Boman, Helge. 2010. Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases. Journal of the Neurological Sciences. 293: 68-75. doi: 10.1016/j.jns.2010.02.028
  • Halmøy, Anne; Johansson, Stefan; Winge, Ingeborg; Mc Kinney, Jeffrey Alan; Knappskog, Per Morten; Haavik, Jan. 2010. Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Archives of General Psychiatry. 67: 1033-1043.
  • Helland, Christian Andre; Aarhus, Mads; Knappskog, Per Morten; Olsson, Lisa K; Lund-Johansen, Morten; Amiry-Moghaddam, Mahmood Reza; Wester, Knut. 2010. Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation. Experimental Neurology. 224: 424-428. doi: 10.1016/j.expneurol.2010.05.002
  • Johansson, Stefan; Halmøy, Anne; Mavroconstanti, Thegna; Jacobsen, Kaya Kvarme; Landaas, Elisabeth Thoverud; Reif, Andreas; Jacob, Christian P.; Boreatti-Hümmer, Andrea; Kreiker, Susanne; Lesch, Klaus-Peter; Kan, Cees C.; Kooij, J.J. Sandra; Kiemeney, Lambertus A.; Buitelaar, Jan K.; Franke, Barbara; Ribases, Marta; Bosch, Rosa; Bayes, Mònica; Casas, Miguel; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Knappskog, Per Morten; Haavik, Jan. 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. 153B: 1008-1015. doi: 10.1002/ajmg.b.31067
  • Landaas, Elisabeth Thoverud; Johansson, Stefan; Jacobsen, Kaya Kvarme; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Jacob, Christian P.; Boreatti-Hümmer, Andrea; Kreiker, Susanne; Lesch, Klaus-Peter; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Kan, Cees C.; Buitelaar, Jan K.; Faraone, Stephen V.; Halmøy, Anne; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Reif, Andreas; Franke, Barbara; Mick, Eric O.; Knappskog, Per Morten; Haavik, Jan. 2010. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes, Brain and Behavior. 9: 449-458. doi: 10.1111/j.1601-183X.2010.00567.x
  • Mavroconstanti, Thegna; Winge, Ingeborg; Mc Kinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2010. Functional studies of candidate genes involved in ADHD. European Psychiatric Review. 3: 44-46.
  • Ramagopalan, Sreeram V; Hanwell, Heather EC; Giovannoni, Gavin; Knappskog, Per Morten; Nyland, Harald Inge; Myhr, Kjell-Morten; Ebers, Georg C; Torkildsen, Øivind Fredvik. 2010. Vitamin D-Dependent Rickets, HIA-DRB1, and the Risk of Multiple Sclerosis. Archives of Neurology. 67: 1034-1035.
  • Sánchez-Mora, Cristina; Ribases, Marta; Ramos-Quiroga, Josep Antonio; Casas, Miguel; Bosch, Rosa; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Fasmer, Ole Bernt; Knappskog, Per Morten; Kooij, J.J. Sandra; Kan, Cees C.; Buitelaar, Jan K.; Mick, Eric O.; Asherson, Philip; Faraone, Stephen V.; Franke, Barbara; Johansson, Stefan; Haavik, Jan; Reif, Andreas; Bayes, Mònica; Cormand, Bru. 2010. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. American Journal of Medical Genetics. 153B: 512-523. doi: 10.1002/ajmg.b.31008
  • Winge, Ingeborg; Mc Kinney, Jeffrey Alan; Halmøy, Anne; Johansson, S; Knappskog, Per Morten; Haavik, Jan. 2010. FUNCTIONAL STUDIES OF DISEASE-RELATED VARIANTS IN HUMAN TRYPTOPHAN HYDROXYLASE 1 AND 2. Journal of Inherited Metabolic Disease. 33: S165-S165.
  • Yamazaki, Masanori; Kosho, Tomoki; Kawachi, Shigeo; Mikoshiba, Maiko; Takahashi, Jun; Sano, Rena; Oka, Kenji; Yoshida, Kunihiro; Watanabe, Tomoharu; Kato, Hiroyuki; Komatsu, Mitsuhisa; Kawamura, Rie; Wakui, Keiko; Knappskog, Per Morten; Boman, Helge; Fukushima, Yoshimitsu. 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. 152A: 764-769. doi: 10.1002/ajmg.a.33315
  • Bratland, Eirik; Bredholt, Geir; Mellgren, Gunnar; Knappskog, Per; Mozes, Edna; Husebye, Eystein Sverre. 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. 33: 58-67. doi: 10.1016/j.jaut.2009.02.018
  • Bruland, Ove; Fluge, Øystein; Akslen, Lars A.; Eiken, Hans Geir; Lillehaug, Johan R.; Varhaug, Jan Erik; Knappskog, Per Morten. 2009. Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas. BMC Cancer. 9: 425. doi: 10.1186/1471-2407-9-425
  • Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek; Wanders, Ronald J.A.; Boman, Helge; Bindoff, Laurence. 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 72: 20-27. doi: 10.1212/01.wnl.0000333664.90605.23
  • Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan; Hoogman, Martine; Romanos, Jasmin; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Casas, Miguel; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Gómez-Barros, Núria; Fernàndez-Castillo, Noèlia; Bayes, Mònica; Halmøy, Anne; Halleland, Helene; Landaas, Elisabeth Thoverud; Fasmer, Ole Bernt; Knappskog, Per Morten; Heiste, Angelien J.G.A.M.; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Boonstra, A. Marije; Kan, Cees C.; Asherson, Philip; Faraone, Stephen V.; Buitelaar, Jan K.; Haavik, Jan; Cormand, Bru; Ramos-Quiroga, Josep Antonio; Reif, Andreas. 2009. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 35: 656-664. doi: 10.1038/npp.2009.170
  • Haavik, Jan; Johansson, Stefan; Knappskog, Per Morten; Winge, Ingeborg; McKinney, JA; Halmoy, A; Landaas, ET. 2009. From synthesis to uptake - serotonergic genes in adult ADHD. European Neuropsychopharmacology. 19: S186-S186.
  • Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan; Skinningsrud, Beate; Lie, Benedicte A; Myhr, Kjell-Morten; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål Rasmus; Kvien, Tore K.; Førre, Øystein; Knappskog, Per Morten; Husebye, Eystein Sverre. 2009. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 10: 120-124. doi: 10.1038/gene.2008.85
  • Mckinney, Jeffrey Alan; Turel, Banu; Winge, Ingeborg; Knappskog, Per; Haavik, Jan. 2009. Functional Properties of Missense Variants of Human Tryptophan Hydroxylase 2. Human Mutation. 30: 787-794. doi: 10.1002/humu.20956
  • Ribases, Marta; Bosch, Rosa; Hervas, Amaia; Ramos-Quiroga, Josep Antonio; Sánchez-Mora, Cristina; Bielsa, Anna; Gastaminza, Xavier; Guijarro-Domingo, Silvia; Nogueira, Mariana; Gómez-Barros, Núria; Kreiker, Susanne; Gross-Lesch, Silke; Jacob, Christian P.; Lesch, Klaus-Peter; Reif, Andreas; Johansson, Stefan; Plessen, Kerstin J.; Knappskog, Per Morten; Haavik, Jan; Estivill, Xavier; Casas, Miguel; Bayes, Mònica; Cormand, Bru. 2009. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biological Psychiatry. 66: 926-934. doi: 10.1016/j.biopsych.2009.06.024
  • Wibom, Carl; Mörén, Lina; Aarhus, Mads; Knappskog, Per; Lund-Johansen, Morten; Antti, Henrik; Bergenheim, A.Tommy. 2009. Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype. Journal of Neuro-Oncology. 94: 321-331. doi: 10.1007/s11060-009-9865-9
  • Aarhus, Mads; Bruland, Ove; Bredholt, Geir; Lybæk, Helle; Husebye, Eystein Sverre; Krossnes, Bård Kronen; Vedeler, Christian A.; Wester, Knut; Lund-Johansen, Morten; Knappskog, Per. 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. 88: 251-259. doi: 10.1007/s11060-008-9569-6
  • Cichon, Sven; Winge, Ingeborg; Mattheisen, Manuel; Georgi, Alexander; Karpushova, Anna; Freudenberg, Jan; Freudenberg-Hua, Yun; Babadjanova, Gulia; Van Den Bogaert, Ann; Abramova, Lili I.; Kapiletti, Sofia; Knappskog, Per; Mckinney, Jeffrey Alan; Maier, Wolfgang; Abou Jamra, Rami; Schulze, Thomas G.; Schumacher, Johannes; Propping, Peter; Rietschel, Marcella; Haavik, Jan; Nöthen, Markus M. 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. 17: 87-97. doi: 10.1093/hmg/ddm286
  • Johansson, Stefan; Halleland, Helene; Halmøy, Anne; Jacobsen, Kaya; Landaas, Elisabeth; Dramsdahl, Margaretha; Fasmer, Ole Bernt; Bergsholm, Per; Lundervold, Arvid; Gillberg, Christopher; Hugdahl, Kenneth; Knappskog, Per; Haavik, Jan. 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. 147B: 1470-1475. doi: 10.1002/ajmg.b.30662
  • Magitta, Ng'weina Francis; Pura, Mikulás; Wolff, Anette Susanne Bøe; Vanuga, Peter; Meager, Anthony; Knappskog, Per; Husebye, Eystein Sverre. 2008. Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. European Journal of Endocrinology. 158: 705-709. doi: 10.1530/EJE-07-0843
  • Magitta, Ng’weina Francis; Bøe, AS; Johansson, S; Skinningsrud, Beate; Lie, Benedicte Alexandra; Myhr, KM; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål R.; Kvien, Tore Kristian; Førre, Øystein Thorleiv; Knappskog, P.M.; Husebye, Eystein. 2008. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. doi: 10.1038/gene.2008.85
  • Mckinney, Jeffrey; Johansson, Stefan; Halmøy, Anne; Dramsdahl, Margaretha; Winge, Ingeborg; Knappskog, Per; Haavik, Jan. 2008. A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Molecular Psychiatry. 13: 365-367. doi: 10.1038/sj.mp.4002152
  • Torkildsen, Øivind Fredvik; Knappskog, Per; Nyland, Harald Inge; Myhr, Kjell-Morten. 2008. Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. Archives of Neurology. 65: 809-811.
  • Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2008. Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. Journal of Neurochemistry. 100: 1648-1657. doi: 10.1111/j.1471-4159.2006.04290.x
  • Winge, Ingeborg; Mckinney, Jeffrey; Ying, Ming; D Santos, Clive; Kleppe, Rune; Knappskog, Per; Haavik, Jan. 2008. Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Biochemical Journal. 410: 195-204. doi: 10.1042/BJ20071033
  • Wolff, Anette Susanne Bøe; Oftedal, Bergithe Eikeland; Johansson, Stefan; Bruland, Ove; Løvås, Kristian; Meager, Anthony; Pedersen, Carsten; Husebye, Eystein Sverre; Knappskog, Per. 2008. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes and Immunity. 9: 130-136. doi: 10.1038/sj.gene.6364457
  • Bratland, Eirik; Wolff, Anette Susanne Bøe; Haavik, Jan; Kämpe, Olle; Sköldberg, Filip; Perheentupa, Jaakko; Bredholt, Geir; Knappskog, Per; Husebye, Eystein S.Junior. 2007. Epitope mapping of human aromatic L-amino acid decarboxylase. Biochemical and Biophysical Research Communications - BBRC. 353: 692-698. doi: 10.1016/j.bbrc.2006.12.080
  • Bratland, Eirik; Wolff, Anette Susanne Bøe; Haavik, Jan; Kämpe, Olle; Sköldberg, Filip; Perheentupa, Jaakko; Bredholt, Geir; Knappskog, Per; Husebye, Eystein Sverre. 2007. Epitope mapping of human aromatic L-amino acid decarboxylase. Scandinavian Journal of Immunology. 65: 592-592.
  • Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2007. Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. Journal of Neurochemistry. 100: 1648-1657. doi: 10.1111/j.1471-4159.2006.04290.x
  • Wolff, Anette Susanne Bøe; Erichsen, Martina Moter; Meager, Anthony; Magitta, Ng'weina Francis; Myhre, Anne Grethe; Bollerslev, Jens; Fougner, Kristian J; Lima, Kari; Knappskog, Per; Husebye, Eystein S.Junior. 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. 92: 595-603. doi: 10.1210/jc.2006-1873
  • Bredholt, Geir; Storstein, Anette Margrethe; Haugen, Monica; Krossnes, Bård Kronen; Husebye, Eystein S.Junior; Knappskog, Per; Vedeler, Christian A. 2006. Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. Scandinavian Journal of Immunology. 64: 325-335. doi: 10.1111/j.1365-3083.2006.01821.x
  • Hahn, AF; Jones, D.L; Knappskog, Per; Boman, Helge; McLeod, James G. 2006. Cold-induced sweating syndrome. A report of two cases and demonstration of genetic heterogeneity. Journal of Neurological Sciences. 250: 62-70.
  • Rousseau, François; Gauchat, Jean-François; McLeod, James G.; Chevalier, Sylvie; Guillet, Catherine; Guilhot, Florence; Cognet, Isabelle; Froger, Josy; Hahn, Angelika F.; Knappskog, Per; Gascan, Hugues; Boman, Helge. 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. 103: 10068-10073. doi: 10.1073/pnas.0509598103
  • Rødahl, Eyvind; Van Ginderdeuren, Rita; Knappskog, Per; Bredrup, Cecilie; Boman, Helge. 2006. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 142: 520-521. doi: 10.1016/j.ajo.2006.03.064
  • Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2006. Characterization og wild-type and mutant forms of human trytopan hydroxylase 2. Journal of Neurochemistry. 10 pages. doi: 10.1111/j.1471-4159.2006.04290.x
  • Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek; Rødahl, Eyvind; Boman, Helge. 2005. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science. 46: 420-426.
  • Haavik, Jan; Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per. 2005. Biochemical characterization of mutant aromatic amino acid hydroxylases implicated in psychiatric disorders. American Journal of Medical Genetics. 138B.
  • Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2005. Different properties of the central and peripheral forms of human tryptophan hydroxylase. Journal of Neurochemistry. 92: 311-320.
  • Winge, Ingeborg; Mckinney, Jeffrey Alan; Knappskog, Per; Haavik, Jan. 2005. Effects of mutations in human tryptophan hydroxylases associated with altered monoaminergic neurotransmission. Journal of Neurochemistry. 94.
  • Bruland, Ove; Knappskog, Per. 2004. One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism. BioTechniques. 37: 906-+.
  • Bøe, Anette Susanne; Bredholt, G.; Knappskog, Per; Storstein, A.; Vedeler, Christian A.; Husebye, Eystein S.Junior. 2004. Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system. British Journal of Cancer. 91: 1508-1514.
  • Bøe, Anette Susanne; Bredholt, Geir; Knappskog, Per; Hjelmervik, Trond Ove; Mellgren, Gunnar; Winqvist, Ola; Kämpe, Olle; Husebye, Eystein S.Junior. 2004. Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1. European Journal of Endocrinology. 150: 49-56.
  • McKinney, J; Mckinney, Jeffrey Alan; Knappskog, Per; Pereira, J.; Ekern, Trude; Toska, Karen; Kuitert, B.B.; Levine, David; Gronenborn, Angela m.; Martinez, Aurora; Haavik, Jan. 2004. Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. Protein Expression and Purification. 33: 185-194.
  • Myhre, Anne Grethe; Stray-Pedersen, A.; Spangen, S.; Eide, E.; Veimo, D.; Knappskog, Per; Abrahamsen, T.G.; Husebye, Eystein S.Junior. 2004. Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. European Journal of Pediatrics. 163: 604-611.
  • Myhre, Anne Grethe; Stray-Pedersen, Asbjørg; Eide, E; Veimo, D.; Knappskog, P.M.; Abrahamsen, Tore G; Husebye, ES. 2004. Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. European Journal of Pediatrics. 163: 604-611.
  • Knappskog, Per Morten; Majewski, J; Livneh, A; Nilsen, P T; Bringsli, J S; Ott, J; Boman, H. 2003. Cold-induced sweating syndrome is caused by mutations in the CRLgene. American Journal of Human Genetics. 72: 375-383.
  • Miranda, Frederiko; Teigen, Knut; Thorolfsson, Matthias; Svebakk, Randi; Knappskog, Per Morten; Flatmark, Torgeir; Martinez, Aurora. 2002. Phosphorylation and mutations of Ser16 in human phenylalanine hydroxylase. Kinetic and structural effects. Journal of Biological Chemistry. 277: 40937-40943.
  • Wang, Lin; Erlandsen, Heidi; Haavik, Jan; Knappskog, Per Morten; Stevens, Raymond C. 2002. Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry. 41: 12569-12574.
  • Gjetting, Torben; Romstad, Anne; Haavik, Jan; Knappskog, Per Morten; Acosta, Angelina X.; Silva, Jr., W.Araujo; Zago, Marco A.; Guldberg, Per; Guttler, Flemming. 2001. A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. Molecular Genetics and Metabolism. 73: 280-284.
  • Krossøy, Bjørn; Devold, Magnus; Sanders, Lisette; Knappskog, Per; Aspehaug, Vidar; Falk, Knut; Nylund, Are; Koumans, Sjo; Endresen, Curt; Biering, Eirik. 2001. Cloning and identification of the infectious salmon anaemia virus haemagglutinin. Journal of General Virology. 82: 1757-1765.
  • Ellingsen, Ståle; Knappskog, Per; Apold, Jaran; Eiken, Hans Geir. 1999. Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsesense (G272X, Y356X) and missense (P281L, R408Q) mutations. FEBS Letters. 457: 505-508.
  • Ellingsen, Ståle; Knappskog, Per; Apold, Jaran; Eiken, Hans Geir. 1999. Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations. FEBS Letters. 457: 505-508.
  • Flatmark, Torgeir; Almås, Bjørg; Knappskog, Per; Berge, SV; Svebak, RM; Chenin, Roseana; Muga, A; Martinez, Aurora. 1999. Tyrosine hydroxylase binds tetrahydrobiopterin cofactor with negative cooperativity as shown by kinetic analysis and surface plasmon resonance detection. European Journal of Biochemistry. 262: 1-11.
  • Kleppe, Rune; Uhlemann, K; Knappskog, Per; Haavik, Jan. 1999. Urea-induced denaturation of human phenylalanine hydroxylase. Journal of Biological Chemistry. 274: 33251-33258.
  • Kleppe, Rune; Uhlemann, K; Knappskog, Per; Haavik, Jan. 1999. Urea-induced denaturation of human phenylalanine hydroxylase. Journal of Biological Chemistry. 274: 33251-33258.
  • Schünemann, V; Meier, C; Meyer-Klaucke, W; Winkler, H; Trautwein, AX; Knappskog, Per; Toska, Karen; Haavik, Jan. 1999. Iron coordination geometry in full-length, truncated, and dehydrated forms of human tyrosine hydroxylase studied by Mossbauer and X-ray spectroscopy. Journal of Biological Inorganic Chemistry. 4: 223-231.
  • Bjørgo, Elisa; Knappskog, Per; Martínez, Aurora; Stevens, R.C.; Flatmark, Torgeir. 1998. Expression, characterization and 3D-structural localization of eight phnylketonuria mutations in exon 7 of the human phenylalanine hydroxylase gene. European Journal of Biochemistry. 257: 1-10.
  • Chehin, R; Thorolfsson, Mathias; Knappskog, Per; Martínez, Aurora; Flatmark, Torgeir; Arrondo, JL; Muga, A. 1998. Domain structure and stability of human phenylalanin hydroxylase inferred from infrared spectroscopy. FEBS Letters. 422: 225-230.
  • Erlandsen, H.; Martinez, S.; Knappskog, Per; Haaheim, Lars Reinhardt. 1997. Crystallization and preliminary crystallographic studies of a truncated recombinant form of human phenylalanine hydroxylase. FEBS Letters. 406: 171-174.
  • Erlandsen, H; Martinez, Aurora; Knappskog, Per; Haavik, Jan; Hough, E; Flatmark, Torgeir. 1997. Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase. FEBS Letters. 406: 171-174.
  • Knappskog, Per; Martinez, Aurora. 1997. Effect of mutations at cys 237 on the activation state and activity of human phenylalanine hydroxylase. FEBS Letters. 409: 7-11.
  • Knappskog, Per; Martinez, Aurora. 1997. Effect of mutations at Cys 237 on the activation state and activity of human phenylalanine hydroxylase. FEBS Letters. 409: 7-11.
  • Waters, P.J; Hewson, A.C; Scriver, C.R; Treacy, E.P; Martinez, Aurora; Knappskog, Per; Parniak, M.A. 1997. Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. Biochemical Society Transactions. 25: S362.
  • Dianzani, I.; Knappskog, Per; Desanctis, L.; Giannattasio, S.; Riva, A.; Ponzone, A.; Apold, Jaran; Camaschella, C. 1996. Novel missense mutation in the phenylalanine-hydroxylase gene leading to complete loss of enzymatic-activity. Human Mutation. 6: 247-249.
  • Døskeland, Anne Paulus; Martinez, Aurora; Knappskog, Per; Flatmark, Torgeir. 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. 319: 409-414.
  • Døskeland, Anne Paulus; Martinez, Aurora; Knappskog, Per; Flatmark, Torgeir. 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. 319: 409-414.
  • Døskeland, Anne Paulus; Martinez, Aurora; Knappskog, Per; Flatmark, Torgeir. 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. 319: 409-414.
  • Eiken, Hans Geir; Knappskog, P.M.; Boman, H.; Thune, K.S.; Motzeldt, Kristina; Kaada, G.; Apold, J. 1996. Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. European Journal of Human Genetics. 4: 205-213.
  • Eiken, Hans Geir; Knappskog, P.M.; Motzeldt, Kristina; Boman, H.; Apold, J. 1996. Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 155: 154-160.
  • Eiken, Hans Geir; Knappskog, Per; Apold, Jaran; Flatmark, Torgeir. 1996. PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Human Mutation. 6: 228-238.
  • Eiken, Hans Geir; Knappskog, Per; Apold, Jaran; Flatmark, Torgeir. 1996. PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Human Mutation. 6: 228-238.
  • Eiken, Hans Geir; Knappskog, Per; Boman, H.; Thune, K.S.; Motzfeldt, K.; Kaada, G.; Apold, Jaran. 1996. Relative frequency, heterogeneity, and geographic clustering of PKU mutations in Norway. European Journal of Human Genetics. 4: 205-213.
  • Eiken, Hans Geir; Knappskog, Per; Guldberg, P.; Apold, Jaran. 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. 8: 19-22.
  • Eiken, Hans Geir; Knappskog, Per; Guldberg, P.; Apold, Jaran. 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. 8: 19-22.
  • Eiken, Hans Geir; Knappskog, Per; Motzfeldt, K.; Boman, Helge; Apold, Jaran. 1996. Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 155: 554-560.
  • Eiken, Hans Geir; Knappskog, Per; Motzfeldt, K.; Boman, Helge; Apold, Jaran. 1996. Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. European Journal of Pediatrics. 155: 554-560.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Bruland, O.; Apold, Jaran; Flatmark, Torgeir. 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. 8: 236-246.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Bruland, O.; Apold, Jaran; Flatmark, Torgeir. 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. 8: 236-246.
  • Knappskog, Per; Flatmark, Torgeir; Aarden, J. M.; Haavik, Jan; Martinez, Aurora. 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. 242: 813-821.
  • Lüdecke, B.; Knappskog, Per; Clayton, P. T.; Surtees, R. A. H.; Clelland, J.; Heales, S. J. R.; Brand, M. P.; Bartholomé, K.; Flatmark, Torgeir. 1996. Recessively inherited L-DOPA-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Human Molecular Genetics. 5: 1023-1028.
  • Lüdecke, B.; Knappskog, Per; Clayton, P.T.; Surtees, R.A.H.; Clelland, J.; Heales, S.J.R.; Brand, M.P.; Bartholomé, K.; Flatmark, Torgeir. 1996. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a poin mutation (L205P) in the tyrosine hydroxylase gene. Human Molecular Genetics. 5: 1023-1028.
  • Olsen, T.C.; Eiken, Hans Geir; Knappskog, Per; Kase, B.F.; Månsson, J.E.; Boman, H.; Apold, Jaran. 1996. Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 97: 198-203.
  • Olsen, T.C.; Eiken, Hans Geir; Knappskog, Per; Kase, B.F.; Månsson, J.E.; Boman, H.; Apold, Jaran. 1996. Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 97: 198-203.
  • Olsen, T.F.; Eiken, Hans Geir; Knappskog, P.M.; Kase, Bengt Frode; Månsson, J-E; Boman, H.; Apold, J. 1996. Mutations in the Induronate 2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics. 18: 198-203.
  • Dianzani, I; Knappskog, Per; de Sanctis, L; Giannattasio, S; Riva, E; Ponzone, A; Apold, Jaran; Camaschella, C. 1995. Novel missence mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. Human Mutation. 6: 247-249.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Flatmark, Torgeir; Apold, Jaran. 1995. The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. Hum Genet. 95: 171-173.
  • Knappskog, Per; Flatmark, Torgeir; Mallet, J.; Lüdecke, B.; Bartholomé, K. 1995. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Human Molecular Genetics. 4: 1209-1212.
  • Knappskog, Per; Flatmark, Torgeir; Mallet, J; Lüdecke, B; Bartholomé, K. 1995. Reccessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Molec Genet. 4: 1209-1212.
  • Knappskog, Per; Haavik, Jan. 1995. Tryptophan fluorescence of human phenylalanine hydroxylase expressed in Escherichia coli. Biochemistry. 34: 11790-11799.
  • Knappskog, Per; Haavik, Jan. 1995. Tryptophan fluorescence of human phenylalanine hydroxylase produced in Escherichia coli. Biochemistry. 34: 11790-11799.
  • Martinez, Aurora; Knappskog, Per; Olafsdottir, S; Døskeland, AP; Eiken, Hans Geir; Svebak, RM; Bozzini, M.; Apold, Jaran; Flatmark, Torgeir. 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. 306: 589-597.
  • Martinez, Aurora; Knappskog, Per; Olafsdottir, S; Døskeland, AP; Eiken, Hans Geir; Svebak, RM; Bozzini, ML; Apold, Jaran; Flatmark, Torgeir. 1995. Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Biochemical Journal. 306: 589-597.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Flatmark, Torgeir; Motzfeldt, K.; Apold, Jaran. 1994. The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. Hum Genet. 94: 171-173.
  • Eiken, Hans Geir; Knappskog, Per; Apold, Jaran. 1993. Restriction enzyme based assays for complete genotyping of phenylketonuria patients. Developmental Brain Dysfunction. 6: 53-59.
  • Eiken, Hans Geir; Knappskog, Per; Apold, Jaran; Skjelkvåle, L.; Boman, H. 1992. A de novo phenylketonuria mutation: ATG(Met) to ATA(Ile) in the start codon of the phenylalanine hydroxylase gene. Hum Mut. 1: 388-391.
  • Eiken, Hans Geir; Stangeland, K.; Skjelkvåle, L.; Knappskog, Per; Boman, H.; Apold, Jaran. 1992. PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions, and phenotype characteristics. Hum Genet. 88: 608-612.
Reports and theses
  • Bjervamoen, Siv Grete; Eiken, Hans Geir; Smith, Martin; Brøseth, Henrik; Aspholm, Paul; Maartmann, Erling; Wabakken, Petter; Knappskog, Per; Wartiainen, Ingvild. 2008. Populasjonsovervåkning av brunbjørn 2005-2008 : rapport for Sør-Norge, 2007. 52. Bioforsk Jord og miljø, Svanhovd. 44 pages.
  • Eiken, Hans Geir; Bjervamoen, Siv Grete; Smith, Martin; Brøseth, Henrik; Wikan, Steinar; Jensen, Lars; Knappskog, Per; Bjørn, Tor-Arne; Ollila, Leif E.; Aspholm, Paul Eric. 2007. Populasjonsovervåkning av brunbjørn 2005-2008: Rapport for Sør-Trøndelag, Nord-Trøndelag, Nordland, Troms og Finnmark 2006. Bioforsk Rapport. 2: 47. Bioforsk, Svanhovd. 29 pages.
  • Eiken, Hans Geir; Wikan, Steinar; Smith, Martin; Jensen, Lars; Brøseth, Henrik; Knappskog, Per; Bjørn, Tor; Ollila, Leif E.; Aspholm, Paul Eric. 2006. Populasjonsovervåkning av brunbjørn 2005-2008 : Rapport for Sør-Varanger, Finnmark for 2004 og 2005. Bioforsk Rapport. 1: 62. Bioforsk Jord og miljø, Svanhovd. 15 pages.
  • Knappskog, Per. 1997. Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. Dr.philos.. -. UiB. 1 pages.
  • Knappskog, Per. 1992. Ekspresjon av normal og mutant human-fenylalin hydrokylase i Escherichia coli. [Mangler utgivernavn].
Book sections
  • Rødahl, Eyvind; Christensen, Anne Elisabeth; Fiskerstrand, Torunn; Knappskog, Per; Boman, Helge. 2012. ADAMTSL4-Related Eye Disorders Includes: Autosomal Recessive Isolated Ectopia Lentis, Ectopia Lentis et Pupillae. -. In:
    • Pagon, RA; Bird, TD; Dolan, CR. 2012. GeneReviews™ [Internet]. University of Washington, Seattle.
  • Flatmark, Torgeir; Knappskog, Per. 1998. Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. 233-242. In:
    • Kanno, T; Nakazato, Y; Kumakura, K. 1998. The Adrenal Chromaffin Cell.
  • Flatmark, Torgeir; Knappskog, Per. 1998. Mutations in the genes of the catecholamine biosynthetic enzymes and human diseases. 73-82. In:
    • Kanno, T; Nakazato, Y; Kumakura, K. 1998. The Adrenal Chromaffin Cell.
  • Flatmark, Torgeir; Knappskog, Per; Bjørgo, Elisa; Martinez, Aurora. 1997. Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. 503-508. In:
    • Pfleiderer, Wolfgang; Rokos, Hartmut. 1997. Chemistry and biology of pteridines and folates: Proceedings of the Eleventh International Symposium on Pteridines and Folates, Berchtesgaden, Germany, June 15-20, 1997. Blackwell Publishing. 894 pages. ISBN: 3-8263-3185-0.
  • Flatmark, Torgeir; Knappskog, Per; Bjørgo, Elisa; Martinez, Aurora. 1997. Molecular (-en 1) characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase. 58-58. In:
    • [Mangler etternavn], [Mangler fornavn]. 1997. Pteridines 8.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Olafsdottir, S.; Haavik, Jan; Flatmark, Torgeir; Apold, Jaran. 1993. Expression of wild type and mutant forms of human phenylalanine hydroxylase in E.Coli. 50-62. In:
    • [Mangler etternavn], [Mangler fornavn]. 1993. Adv Exp Med Biol.
  • Knappskog, Per; Eiken, Hans Geir; Martinez, Aurora; Olafsdottir, S.; Haavik, Jan; Flatmark, Torgeir; Apold, Jaran. 1993. Expression of recombinant wild type and mutant forms of human phenylalanine hydroxylase in E. coli. In:
    • Ayling, June E.; Nair, M.G.; Baugh, C.M. 1993. Chemistry and Biology of Pteridines and Folates. Proceedings of the Tenth International Symposium on Chemistry and Biology of Pteridines, held March 21 - 26, 1993, in Orange Beach, Alabama. 825 pages. ISBN: 0306445816.

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