Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
Oftedal, Bergithe E., Hellesen, Alexander, Erichsen, Martina M., 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, W.A.C., Sozaeva, Leila S., Zayats, Tetyana, Haugarvoll, Kristoffer, Orlova, Elizaveta M., Haavik, Jan, Johansson, Stefan, Knappskog, Per M., Løvås, Kristian, Wolff, Anette S.B., Abramson, Jakub, Husebye, Eystein S.
Published in Immunity (Cambridge, Mass.) (16.06.2015)
Published in Immunity (Cambridge, Mass.) (16.06.2015)
Get full text
Journal Article
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1
Oftedal, Bergithe Eikeland, Berger, Amund Holte, Bruserud, Øyvind, Goldfarb, Yael, Sulen, Andre, Breivik, Lars, Hellesen, Alexander, Ben-Dor, Shifra, Haffner-Krausz, Rebecca, Knappskog, Per M, Johansson, Stefan, Wolff, Anette Sb, Bratland, Eirik, Abramson, Jakub, Husebye, Eystein Sverre
Published in The Journal of clinical investigation (01.11.2023)
Published in The Journal of clinical investigation (01.11.2023)
Get full text
Journal Article
Genome-wide analysis of attention deficit hyperactivity disorder in Norway
Zayats, Tetyana, Athanasiu, Lavinia, Sonderby, Ida, Djurovic, Srdjan, Westlye, Lars T, Tamnes, Christian K, Fladby, Tormod, Aase, Heidi, Zeiner, Pål, Reichborn-Kjennerud, Ted, Knappskog, Per M, Knudsen, Gun Peggy, Andreassen, Ole A, Johansson, Stefan, Haavik, Jan
Published in PloS one (13.04.2015)
Published in PloS one (13.04.2015)
Get full text
Journal Article
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, 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, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
Get full text
Journal Article
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
Get full text
Journal Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Pakdaman, Yasaman, Sanchez-Guixé, Monica, Kleppe, Rune, Erdal, Sigrid, Bustad, Helene J, Bjørkhaug, Lise, Haugarvoll, Kristoffer, Tzoulis, Charalampos, Heimdal, Ketil, Knappskog, Per M, Johansson, Stefan, Aukrust, Ingvild
Published in Bioscience reports (30.04.2017)
Published in Bioscience reports (30.04.2017)
Get full text
Journal Article
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, 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 M, Zeviani, Massimo, Bindoff, Laurence A
Published in EMBO molecular medicine (01.03.2016)
Published in EMBO molecular medicine (01.03.2016)
Get full text
Journal Article
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Published in International journal of molecular sciences (30.05.2021)
Published in International journal of molecular sciences (30.05.2021)
Get full text
Journal Article
Different properties of the central and peripheral forms of human tryptophan hydroxylase
McKinney, Jeffrey, Knappskog, Per M., Haavik, Jan
Published in Journal of neurochemistry (01.01.2005)
Published in Journal of neurochemistry (01.01.2005)
Get full text
Journal Article
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
Flønes, Irene, Sztromwasser, Paweł, Haugarvoll, Kristoffer, Dölle, Christian, Lykouri, Maria, Schwarzlmüller, Thomas, Jonassen, Inge, Miletic, Hrvoje, Johansson, Stefan, Knappskog, Per M, Bindoff, Laurence A, Tzoulis, Charalampos
Published in PloS one (10.02.2016)
Published in PloS one (10.02.2016)
Get full text
Journal Article
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish
Pakdaman, Yasaman, Denker, Elsa, Austad, Eirik, Norton, William H. J., Rolfsnes, Hans O., Bindoff, Laurence A., Tzoulis, Charalampos, Aukrust, Ingvild, Knappskog, Per M., Johansson, Stefan, Ellingsen, Ståle
Published in Frontiers in molecular neuroscience (24.09.2021)
Published in Frontiers in molecular neuroscience (24.09.2021)
Get full text
Journal Article
Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas
Aarhus, Mads, Bruland, Ove, Sætran, Hege Aase, Mork, Sverre J, Lund-Johansen, Morten, Knappskog, Per M
Published in Neurosurgery (01.10.2010)
Published in Neurosurgery (01.10.2010)
Get full text
Journal Article
Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east-west border population in the Pasvik Valley
SCHREGEL, JULIA, KOPATZ, ALEXANDER, HAGEN, SNORRE B., BRØSETH, HENRIK, SMITH, MARTIN E., WIKAN, STEINAR, WARTIAINEN, INGVILD, ASPHOLM, PAUL E., ASPI, JOUNI, SWENSON, JON E., MAKAROVA, OLGA, POLIKARPOVA, NATALIA, SCHNEIDER, MICHAEL, KNAPPSKOG, PER M., RUOKONEN, MINNA, KOJOLA, ILPO, TIRRONEN, KONSTANTIN F., DANILOV, PJOTR I., EIKEN, HANS GEIR
Published in Molecular ecology (01.07.2012)
Published in Molecular ecology (01.07.2012)
Get full text
Journal Article
Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin
Wang, Lin, Erlandsen, Heidi, Haavik, Jan, Knappskog, Per M, Stevens, Raymond C
Published in Biochemistry (Easton) (22.10.2002)
Published in Biochemistry (Easton) (22.10.2002)
Get full text
Journal Article
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy
Bredrup, Cecilie, Stang, Espen, Bruland, Ove, Palka, Barbara P, Young, Robert D, Haavik, Jan, Knappskog, Per M, Rødahl, Eyvind
Published in Investigative ophthalmology & visual science (01.11.2010)
Published in Investigative ophthalmology & visual science (01.11.2010)
Get full text
Journal Article
Functional properties of missense variants of human tryptophan hydroxylase 2
McKinney, Jeffrey A, Turel, Banu, Winge, Ingeborg, Knappskog, Per M, Haavik, Jan
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
Get full text
Journal Article
Exome sequencing and genetic testing for MODY
Johansson, Stefan, Irgens, Henrik, Chudasama, Kishan K, Molnes, Janne, Aerts, Jan, Roque, Francisco S, Jonassen, Inge, Levy, Shawn, Lima, Kari, Knappskog, Per M, Bell, Graeme I, Molven, Anders, Njølstad, Pål R
Published in PloS one (25.05.2012)
Published in PloS one (25.05.2012)
Get full text
Journal Article