Search Results - "KNAPPSKOG, P"

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? by Hikmat, O., Tzoulis, C., Knappskog, P. M., Johansson, S., Boman, H., Sztromwasser, P., Lien, E., Brodtkorb, E., Ghezzi, D., Bindoff, L. A.

“…Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3…”
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A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes by Magitta, N F, Bøe Wolff, A S, Johansson, S, Skinningsrud, B, Lie, B A, Myhr, K-M, Undlien, D E, Joner, G, Njølstad, P R, Kvien, T K, Førre, Ø, Knappskog, P M, Husebye, E S

“…Variants in the gene encoding NACHT leucine-rich-repeat protein 1 (NALP1), an important molecule in innate immunity, have recently been shown to confer risk…”
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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 by Johansson, S., Halleland, H., Halmøy, A., Jacobsen, K.K., Landaas, E.T., Dramsdahl, M., Fasmer, O.B., Bergsholm, P., Lundervold, A.J., Gillberg, C., Hugdahl, K., Knappskog, P.M., Haavik, J.

“…Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable psychiatric disorder in children and adults. Recent meta‐analyses have…”
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CENTRAL AND PERIPHERAL AUTONOMIC FAILURE IN COLD-INDUCED SWEATING SYNDROME TYPE 1 by DI LEO, R, NOLANO, M, BOMAN, H, PIERANGELI, G, PROVITERA, V, KNAPPSKOG, P. M, CORTELLI, P, VITA, G, RODOLICO, C

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Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations by Sánchez-Mora, C., Ribasés, M., Ramos-Quiroga, J.A., Casas, M., Bosch, R., Boreatti-Hümmer, A., Heine, M., Jacob, C.P., Lesch, K-P., Fasmer, O.B., Knappskog, P.M., Kooij, J.J. Sandra, Kan, C., Buitelaar, J.K., Mick, E., Asherson, P., Faraone, S.V., Franke, B., Johansson, S., Haavik, J., Reif, A., Bayés, M., Cormand, B.

“…Attention‐deficit hyperactivity disorder (ADHD) is a multifactorial, neurodevelopmental disorder that often persists into adolescence and adulthood and is…”
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A forensic DNA profiling system for Northern European brown bears ( Ursus arctos ) by Andreassen, R, Schregel, J, Kopatz, A, Tobiassen, C, Knappskog, P.M, Hagen, S.B, Kleven, O, Schneider, M, Kojola, I, Aspi, J, Rykov, A, Tirronen, K.F, Danilov, P.I, Eiken, H.G

“…Abstract A set of 13 dinucleotide STR loci (G1A, G10B, G1D, G10L, MU05, MU09, MU10, MU15, MU23, MU26, MU50, MU51, MU59) were selected as candidate markers for…”
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Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases by HAHN, A. F, WAALER, P. E, KVISTAD, P. H, BAMFORTH, J. S, MILES, J. H, MCLEOD, J. G, KNAPPSKOG, P. M, BOMAN, H

“…Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions…”
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A novel Refsum-like disorder that maps to chromosome 20 by FISKERSTRAND, T, KNAPPSKOG, P, MAJEWSKI, J, WANDERS, R. J, BOMAN, H, BINDOFF, L. A

“…Clinical and genetic characterization of a neurologic disorder resembling Refsum disease in a Norwegian consanguineous family. The affected individuals…”
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A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit hyperactivity disorder by McKinney, J, Johansson, S, Halmøy, A, Dramsdahl, M, Winge, I, Knappskog, P M, Haavik, J

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An international multicenter association study of the serotonin transporter gene in persistent ADHD by Landaas, E. T., Johansson, S., Jacobsen, K. K., Ribasés, M., Bosch, R., Sánchez‐Mora, C., Jacob, C. P., Boreatti‐Hümmer, A., Kreiker, S., Lesch, K.‐P., Kiemeney, L. A., Kooij, J. J. S., Kan, C., Buitelaar, J. K., Faraone, S. V., Halmøy, A., Ramos‐Quiroga, J. A., Cormand, B., Reif, A., Franke, B., Mick, E., Knappskog, P. M., Haavik, J.

“…Attention deficit hyperactivity disorder (ADHD) is a common behavioral disorder affecting children and adults. It has been suggested that gene variants related…”
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Cold-induced sweating syndrome A report of two cases and demonstration of genetic heterogeneity by Hahn, A.F., Jones, D.L., Knappskog, P.M., Boman, H., McLeod, J.G.

“…To characterize the specific autonomic disturbances underlying the cold-induced sweating syndrome (CISS), and to describe a novel genetic variant of this rare…”
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Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene by Knappskog, P M, Flatmark, T, Mallet, J, Lüdecke, B, Bartholomé, K

“…Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine…”
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AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I by Bøe Wolff, A S, Oftedal, B, Johansson, S, Bruland, O, Løvås, K, Meager, A, Pedersen, C, Husebye, E S, Knappskog, P M

“…Autoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations…”
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A structural approach into human tryptophan hydroxylase and its implications for the regulation of serotonin biosynthesis by Martínez, A, Knappskog, P M, Haavik, J

“…Tryptophan hydroxylase (TPH) catalyzes the 5-hydroxylation of tryptophan, which is the first step in the biosynthesis of indoleamines (serotonin and…”
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Conformation of the Substrate and Pterin Cofactor Bound to Human Tryptophan Hydroxylase. Important Role of Phe313 in Substrate Specificity by McKinney, Jeffrey, Teigen, Knut, Frøystein, Nils Åge, Salaün, Clotilde, Knappskog, Per M, Haavik, Jan, Martínez, Aurora

“…Tryptophan hydroxylase (TPH) carries out the 5-hydroxylation of l-Trp, which is the rate-limiting step in the synthesis of serotonin. We have prepared and…”
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Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin by Wang, Lin, Erlandsen, Heidi, Haavik, Jan, Knappskog, Per M, Stevens, Raymond C

“…Tryptophan hydroxylase oxidizes l-tryptophan to 5-hydroxy-l-tryptophan in the rate-determining step of serotonin biosynthesis. We have determined the X-ray…”
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Cloning and identification of the infectious salmon anaemia virus haemagglutinin by Krossoy, B, Devold, M, Sanders, L, Knappskog, P.M, Aspehaug, V, Falk, K, Nylund, A, Koumans, S, Endresen, C, Biering, E

“…Infectious salmon anaemia virus (ISAV) is an orthomyxo-like virus that causes serious disease in Atlantic salmon (Salmo salar). Like the orthomyxoviruses, ISAV…”
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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 by Martinez, A, Knappskog, P M, Olafsdottir, S, Døskeland, A P, Eiken, H G, Svebak, R M, Bozzini, M, Apold, J, Flatmark, T

“…Recombinant human phenylalanine hydroxylase (hPAH) was produced in high yields in Escherichia coli using the pET and pMAL expression vectors. In the pMAL…”
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Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system by BØE, A. S, BREDHOLT, G, KNAPPSKOG, P. M, STORSTEIN, A, VEDELER, C. A, HUSEBYE, E. S

“…Autoantibodies against many proteins are common in sera from patients with various types of cancer. These antibodies are sometimes involved in the development…”
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Detection of Autoantibodies to the BTB‐kelch Protein KLHL7 in Cancer Sera by Bredholt, G., Storstein, A., Haugen, M., Krossnes, B. K., Husebye, E., Knappskog, P., Vedeler, C. A.

“…The aim of the study was to search for novel targets of autoantibodies in patients with paraneoplastic neurological syndromes (PNS). PNS are mediated by immune…”
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