OpenURL Connection Search

Select item for more details and to access through your institution.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Published in:
EMBO Molecular Medicine, 2016, v. 8, n. 3, p. 176, doi. 10.15252/emmm.201505894
By:
- 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
Publication type:
Article
Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.
Published in:
Clinical Genetics, 1999, v. 55, n. 3, p. 198, doi. 10.1034/j.1399-0004.1999.550308.x
By:
- Bruland, Ove;
- Almqvist, Elisabeth W;
- Goldberg, Y Paul;
- Boman, Helge;
- Hayden, Michael R;
- Knappskog, Per M
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A.;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M. E.;
- Knappskog, Per M.;
- Johansson, Stefan
Publication type:
Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Published in:
2014
By:
- Heimdal, Ketil;
- Sanchez-Guixé, Monica;
- Aukrust, Ingvild;
- Bollerslev, Jens;
- Bruland, Ove;
- Jablonski, Greg Eigner;
- Erichsen, Anne Kjersti;
- Gude, Einar;
- Koht, Jeanette A;
- Erdal, Sigrid;
- Fiskerstrand, Torunn;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Bjørkhaug, Lise;
- Tallaksen, Chantal M E;
- Knappskog, Per M;
- Johansson, Stefan
Publication type:
journal article
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.
Published in:
2018
By:
- Gaare, Johannes J.;
- Nido, Gonzalo S.;
- Sztromwasser, Paweł;
- Knappskog, Per M.;
- Dahl, Olav;
- Lund-Johansen, Morten;
- Alves, Guido;
- Tysnes, Ole-Bjørn;
- Johansson, Stefan;
- Haugarvoll, Kristoffer;
- Tzoulis, Charalampos;
- Sztromwasser, Pawel
Publication type:
Letter
Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1.
Published in:
European Journal of Endocrinology, 2004, v. 150, n. 1, p. 0049
By:
- Anette S Boe;
- Geir Bredholt;
- Per M Knappskog;
- Trond Ove Hjelmervik;
- Gunnar Mellgren;
- Ola Winqvist;
- Olle Kampe;
- Eystein S Husebye
Publication type:
Article
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
Published in:
European Journal of Endocrinology, 2002, v. 146, n. 4, p. 519, doi. 10.1530/eje.0.1460519
By:
- Bøe, Anette S.;
- Knappskog, Per M.;
- Myhre, Anne Grethe;
- Sørheim, Jan I.;
- Husebye, Eystein S.
Publication type:
Article
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5870, doi. 10.3390/ijms22115870
By:
- 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
Publication type:
Article
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.
Published in:
2017
By:
- Orlova, Elizaveta M;
- Sozaeva, Leila S;
- Kareva, Maria A;
- Oftedal, Bergithe E;
- Wolff, Anette S B;
- Breivik, Lars;
- Zakharova, Ekaterina Y;
- Ivanova, Olga N;
- Kämpe, Olle;
- Dedov, Ivan I;
- Knappskog, Per M;
- Peterkova, Valentina A;
- Husebye, Eystein S
Publication type:
journal article
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.
Published in:
2016
By:
- Bruserud, Øyvind;
- Oftedal, Bergithe E;
- Landegren, Nils;
- Erichsen, Martina M;
- Bratland, Eirik;
- Lima, Kari;
- Jørgensen, Anders P;
- Myhre, Anne G;
- Svartberg, Johan;
- Fougner, Kristian J;
- Bakke, Åsne;
- Nedrebø, Bjørn G;
- Mella, Bjarne;
- Breivik, Lars;
- Viken, Marte K;
- Knappskog, Per M;
- Marthinussen, Mihaela C;
- Løvås, Kristian;
- Kämpe, Olle;
- Wolff, Anette B
Publication type:
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.
Published in:
Molecular Ecology, 2012, v. 21, n. 14, p. 3474, doi. 10.1111/j.1365-294X.2012.05631.x
By:
- 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
Publication type:
Article
Genome-Wide Analysis of Attention Deficit Hyperactivity Disorder in Norway.
Published in:
PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122501
By:
- 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
Publication type:
Article
Functional Properties of Rare Missense Variants of Human <i>CDH13</i> Found in Adult Attention Deficit/Hyperactivity Disorder (ADHD) Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071445
By:
- Mavroconstanti, Thegna;
- Johansson, Stefan;
- Winge, Ingeborg;
- Knappskog, Per M.;
- Haavik, Jan
Publication type:
Article
Exome Sequencing and Genetic Testing for MODY.
Published in:
PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0038050
By:
- 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.
Publication type:
Article
Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 2, p. 595, doi. 10.1210/jc.2006-1873
By:
- Wolff, Anette S. B.;
- Department of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway., Martina M.;
- Meager, Anthony;
- Magitta, Ng’weina Francis;
- Myhre, Anne Grethe;
- Bollerslev, Jens;
- Fougner, Kristian J.;
- Lima, Kari;
- Knappskog, Per M.;
- Husebye, Eystein S.
Publication type:
Article
Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease.
Published in:
Journal of the Endocrine Society, 2021, v. 5, n. 3, p. 1, doi. 10.1210/jendso/bvaa202
By:
- Sævik, Åse Bjorvatn;
- Wolff, Anette B;
- Björnsdottir, Sigridur;
- Simunkova, Katerina;
- Hynne, Martha Schei;
- Dolan, David William Peter;
- Bratland, Eirik;
- Knappskog, Per M;
- Methlie, Paal;
- Carlsen, Siri;
- Isaksson, Magnus;
- Bensing, Sophie;
- Kämpe, Olle;
- Husebye, Eystein S;
- Løvås, Kristian;
- Øksnes, Marianne
Publication type:
Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Published in:
Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20170251
By:
- Pakdaman, Yasaman;
- Sanchez-Guixé, Monica;
- Kleppe, Rune;
- Erdal, Sigrid;
- Bustad, Helene J.;
- Bjrkhaug, Lise;
- Haugarvoll, Kristoffer;
- Tzoulis, Charalampos;
- Heimdal, Ketil;
- Knappskog, Per M.;
- Johansson, Stefan;
- Aukrust, Ingvild
Publication type:
Article
The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity.
Published in:
Journal of Neurochemistry, 2019, v. 148, n. 2, p. 291, doi. 10.1111/jnc.14624
By:
- Kallio, Juha P.;
- Hallin, Erik I.;
- Szigetvari, Peter D.;
- Haavik, Jan;
- Kursula, Petri;
- Kursula, Inari;
- Fossbakk, Agnete;
- Knappskog, Per M.;
- Muruganandam, Gopinath;
- Loris, Remy;
- Møller, Lisbeth B.
Publication type:
Article
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Published in:
Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. 240, doi. 10.1111/aos.13273
By:
- Aukrust, Ingvild;
- Jansson, Ragnhild W.;
- Bredrup, Cecilie;
- Rusaas, Hilde E.;
- Berland, Siren;
- Jørgensen, Agnete;
- Haug, Marte G.;
- Rødahl, Eyvind;
- Houge, Gunnar;
- Knappskog, Per M.
Publication type:
Article
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149055
By:
- 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
Publication type:
Article
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Published in:
Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.723912
By:
- 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
Publication type:
Article
Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts.
Published in:
Cerebrospinal Fluid Research, 2010, v. 7, p. 6, doi. 10.1186/1743-8454-7-6
By:
- Aarhus, Mads;
- Helland, Christian A.;
- Lund-Johansen, Morten;
- Wester, Knut;
- Knappskog, Per M.
Publication type:
Article
Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia.
Published in:
Human Mutation, 2014, v. 35, n. 7, p. 880, doi. 10.1002/humu.22565
By:
- Fossbakk, Agnete;
- Kleppe, Rune;
- Knappskog, Per M.;
- Martinez, Aurora;
- Haavik, Jan
Publication type:
Article
Functional properties of missense variants of human tryptophan hydroxylase 2.
Published in:
Human Mutation, 2009, v. 30, n. 5, p. 787, doi. 10.1002/humu.20956
By:
- McKinney, Jeffrey A.;
- Turel, Banu;
- Winge, Ingeborg;
- Knappskog, Per M.;
- Haavik, Jan
Publication type:
Article
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 1, p. 87
By:
- Cichon, Sven;
- Winge, Ingeborg;
- Mattheisen, Manuel;
- Georgi, Alexander;
- Karpushova, Anna;
- Freudenberg, Jan;
- Freudenberg-Hua, Yun;
- Babadjanova, Gulia;
- Van Den Bogaert, Ann;
- Abramova, Lilia I.;
- Kapiletti, Sofia;
- Knappskog, Per M.;
- McKinney, Jeffrey;
- Maier, Wolfgang;
- Abou Jamra, Rami;
- Schulze, Thomas G.;
- Schumacher, Johannes;
- Propping, Peter;
- Rietschel, Marcella;
- Haavik, Jan
Publication type:
Article
Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2.
Published in:
Journal of Neurochemistry, 2007, v. 100, n. 6, p. 1648, doi. 10.1111/j.1471-4159.2006.04290.x
By:
- Winge, Ingeborg;
- McKinney, Jeffrey A.;
- Knappskog, Per M.;
- Haavik, Jan
Publication type:
Article
Different properties of the central and peripheral forms of human tryptophan hydroxylase.
Published in:
Journal of Neurochemistry, 2005, v. 92, n. 2, p. 311, doi. 10.1111/j.1471-4159.2004.02850.x
By:
- McKinney, Jeffrey;
- Knappskog, Per M.;
- Haavik, Jan
Publication type:
Article
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.
Published in:
BMC Infectious Diseases, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2334-14-63
By:
- Haarr, Lars;
- Nilsen, Arvid;
- Knappskog, Per M.;
- Langeland, Nina
Publication type:
Article
Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.
Published in:
2018
By:
- Gaare, Johannes J.;
- Nido, Gonzalo S.;
- Sztromwasser, Paweł;
- Knappskog, Per M.;
- Dahl, Olav;
- Lund‐Johansen, Morten;
- Maple‐Grødem, Jodi;
- Alves, Guido;
- Tysnes, Ole‐Bjørn;
- Johansson, Stefan;
- Haugarvoll, Kristoffer;
- Tzoulis, Charalampos;
- Lund-Johansen, Morten;
- Maple-Grødem, Jodi;
- Tysnes, Ole-Bjørn
Publication type:
journal article
Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C).
Published in:
Human Mutation, 1997, v. 9, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K
By:
- Ellingsen, Ståle;
- Knappskog, Per M.;
- Eiken, Hans Geir
Publication type:
Article
PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
Published in:
Human Mutation, 1996, v. 8, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7
By:
- Knappskog, Per M.;
- Eiken, Hans Geir;
- Martínez, Aurora;
- Bruland, Ove;
- Apold, Jaran;
- Flatmark, Torgeir
Publication type:
Article
DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.
Published in:
Human Mutation, 1996, v. 8, n. 1, p. 19, doi. 10.1002/(SICI)1098-1004(1996)8:1<19::AID-HUMU2>3.0.CO;2-K
By:
- Eiken, Hans Geir;
- Knappskog, Per M.;
- Guldberg, Per;
- Apold, Jaran
Publication type:
Article
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
Published in:
Human Mutation, 1996, v. 7, n. 3, p. 228, doi. 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6
By:
- Eiken, Hans Geir;
- Knappskog, Per M.;
- Apold, Jaran;
- Flatmark, Torgeir
Publication type:
Article
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.
Published in:
Human Mutation, 1995, v. 6, n. 3, p. 247, doi. 10.1002/humu.1380060308
By:
- Dianzani, Irma;
- Knappskog, Per M.;
- de Sanctis, Luisa;
- Giannattasio, Sergio;
- Riva, Enrica;
- Ponzone, Alberto;
- Apold, Jaran;
- Camaschella, Clara
Publication type:
Article
A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene.
Published in:
Human Mutation, 1992, v. 1, n. 5, p. 388, doi. 10.1002/humu.1380010507
By:
- Eiken, Hans Geir;
- Knappskog, Per M.;
- Apold, Jaran;
- Skjelkvåle, Leif;
- Boman, Helge
Publication type:
Article
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.
Published in:
Annals of Clinical & Translational Neurology, 2014, v. 1, n. 11, p. 926, doi. 10.1002/acn3.126
By:
- Melone, Mariarosa A. B.;
- Pellegrino, Michael J.;
- Nolano, Maria;
- Habecker, Beth A.;
- Johansson, Stefan;
- Nathanson, Neil M.;
- Knappskog, Per M.;
- Hahn, Angelika F.;
- Boman, Helge
Publication type:
Article
Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 7, p. 1023, doi. 10.1093/hmg/5.7.1023
By:
- Lüdecke, Barbara;
- Knappskog, Per M.;
- Clayton, Peter T.;
- Surtees, Robert A. H.;
- Clelland, James D.;
- Heales, Simon J. R.;
- Brand, Michael P.;
- Bartholomé, Klaus;
- Flatmark, Torgeir
Publication type:
Article
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 7, p. 1209
By:
- Knappskog, Per M.;
- Flatmark, Torgeir;
- Mallet, Jacques;
- Lūdecke, Barbara;
- Bartholomé, Klaus
Publication type:
Article

Found: 38