OpenURL Connection Search

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

Screening for viral nucleic acids in vestibular schwannoma.
Published in:
Journal of NeuroVirology, 2018, v. 24, n. 6, p. 730, doi. 10.1007/s13365-018-0669-6
By:
- Håvik, Aril Løge;
- Bruland, Ove;
- Aarhus, Mads;
- Kalland, Karl-Henning;
- Stokowy, Tomasz;
- Lund-Johansen, Morten;
- Knappskog, Per-Morten
Publication type:
Article
Chronic mucocutaneous candidiasis and primary hypothyroidism in two families.
Published in:
2004
By:
- Myhre, Anne Grethe;
- Stray-Pedersen, Asbjörg;
- Spangen, Steinar;
- Eide, Eigill;
- Veimo, Dag;
- Knappskog, Per Morten;
- Abrahamsen, Tore G.;
- Husebye, Eystein S.;
- Stray-Pedersen, Asbjørg
Publication type:
journal article
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
By:
- Wedding, Iselin Marie;
- Kroken, Mette;
- Henriksen, Sandra Pilar;
- Selmer, Kaja Kristine;
- Fiskerstrand, Torunn;
- Knappskog, Per Morten;
- Berge, Tone;
- Tallaksen, Chantal M. E.
Publication type:
Article
Friedreich ataxia in Norway -- an epidemiological, molecular and clinical study.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
By:
- Wedding, Iselin Marie;
- Kroken, Mette;
- Henriksen, Sandra Pilar;
- Selmer, Kaja Kristine;
- Fiskerstrand, Torunn;
- Knappskog, Per Morten;
- Berge, Tone;
- Tallaksen, Chantal M. E.
Publication type:
Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A.
Publication type:
Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
2013
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A
Publication type:
journal article
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1899, doi. 10.1093/brain/awae018
By:
- Muñoz-Oreja, Mikel;
- Sandoval, Abigail;
- Bruland, Ove;
- Perez-Rodriguez, Diego;
- Fernandez-Pelayo, Uxoa;
- Arbina, Amaia Lopez de;
- Villar-Fernandez, Marina;
- Hernández-Eguiazu, Haizea;
- Hernández, Ixiar;
- Park, Yohan;
- Goicoechea, Leire;
- Pascual-Frías, Nerea;
- Garcia-Ruiz, Carmen;
- Fernandez-Checa, Jose;
- Martí-Carrera, Itxaso;
- Gil-Bea, Francisco Javier;
- Hasan, Mazahir T;
- Gegg, Matthew E;
- Bredrup, Cecilie;
- Knappskog, Per-Morten
Publication type:
Article
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
Published in:
2017
By:
- 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;
- Swedish Addison Register Study Group;
- Hulting, Anna-Lena;
- Lindblad-Toh, Kerstin;
- Alimohammadi, Mohammad;
- Husebye, Eystein S;
- Knappskog, Per Morten;
- Pielberg, Gerli Rosengren;
- Bensing, Sophie
Publication type:
journal article
Novel <i>SACS</i> Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Published in:
PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066145
By:
- Tzoulis, Charalampos;
- Johansson, Stefan;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A.
Publication type:
Article
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Published in:
BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-10790-w
By:
- Bassi, Nicola;
- Hovland, Henrikke Nilsen;
- Rasheed, Kashif;
- Jarhelle, Elisabeth;
- Pedersen, Nikara;
- Mchaina, Eunice Kabanyana;
- Bakkan, Sara Marie Engelsvold;
- Iversen, Nina;
- Høberg-Vetti, Hildegunn;
- Haukanes, Bjørn Ivar;
- Knappskog, Per Morten;
- Aukrust, Ingvild;
- Ognedal, Elisabet;
- Van Ghelue, Marijke
Publication type:
Article
Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.
Published in:
Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0599-y
By:
- Gudmundsson, Olafur O.;
- Walters, G. Bragi;
- Ingason, Andres;
- Johansson, Stefan;
- Zayats, Tetyana;
- Athanasiu, Lavinia;
- Sonderby, Ida Elken;
- Gustafsson, Omar;
- Nawaz, Muhammad S.;
- Jonsson, Gudbjorn F.;
- Jonsson, Lina;
- Knappskog, Per-Morten;
- Ingvarsdottir, Ester;
- Davidsdottir, Katrin;
- Djurovic, Srdjan;
- Knudsen, Gun Peggy Strømstad;
- Askeland, Ragna Bugge;
- Haraldsdottir, Gyda S.;
- Baldursson, Gisli;
- Magnusson, Pall
Publication type:
Article
Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature.
Published in:
2018
By:
- Stige, Kjersti Eline;
- Gjerde, Ivar Otto;
- Houge, Gunnar;
- Knappskog, Per Morten;
- Tzoulis, Charalampos
Publication type:
Case Study
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.
Published in:
Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 876, doi. 10.1002/acn3.362
By:
- Lozic, Bernarda;
- Johansson, Stefan;
- Lovric Kojundzic, Sanja;
- Markic, Josko;
- Knappskog, Per Morten;
- Hahn, Angelika F.;
- Boman, Helge
Publication type:
Article
Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.
Published in:
Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. e733, doi. 10.1111/aos.14679
By:
- Holtan, Josephine Prener;
- Aukrust, Ingvild;
- Jansson, Ragnhild Wivestad;
- Berland, Siren;
- Bruland, Ove;
- Gjerde, Birgitt Løkhaug;
- Stokowy, Tomasz;
- Bojovic, Ognjen;
- Forsaa, Vegard;
- Austeng, Dordi;
- Rødahl, Eyvind;
- Bredrup, Cecilie;
- Knappskog, Per Morten;
- Bragadóttir, Ragnheiður
Publication type:
Article
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Published in:
PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169309
By:
- 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 Morten;
- Bindoff, Laurence A.
Publication type:
Article
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.
Published in:
Acta Neurochirurgica, 2022, v. 164, n. 2, p. 343, doi. 10.1007/s00701-021-05062-0
By:
- Håvik, Aril Løge;
- Bruland, Ove;
- Miletic, Hrvoje;
- Poulsgaard, Lars;
- Scheie, David;
- Fugleholm, Kåre;
- Lund-Johansen, Morten;
- Knappskog, Per-Morten
Publication type:
Article
The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients.
Published in:
Journal of Neuro-Oncology, 2021, v. 154, n. 1, p. 35, doi. 10.1007/s11060-021-03796-6
By:
- Taule-Sivertsen, Peter;
- Bruland, Ove;
- Håvik, Aril Løge;
- Bratland, Eirik;
- Lund-Johansen, Morten;
- Knappskog, Per Morten
Publication type:
Article
Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma.
Published in:
Journal of Neuro-Oncology, 2020, v. 149, n. 3, p. 373, doi. 10.1007/s11060-020-03631-4
By:
- Løge Håvik, Aril;
- Bruland, Ove;
- Dhayalan, Dhanushan;
- Lund-Johansen, Morten;
- Knappskog, Per-Morten
Publication type:
Article
Proteomic profiles differ between bone invasive and noninvasive benign meningiomas of fibrous and meningothelial subtype.
Published in:
Journal of Neuro-Oncology, 2009, v. 94, n. 3, p. 321, doi. 10.1007/s11060-009-9865-9
By:
- Wibom, Carl;
- Mörén, Lina;
- Aarhus, Mads;
- Knappskog, Per Morten;
- Lund-Johansen, Morten;
- Antti, Henrik;
- Bergenheim, A. Tommy
Publication type:
Article
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Published in:
Genes, 2023, v. 14, n. 2, p. 262, doi. 10.3390/genes14020262
By:
- Hovland, Henrikke Nilsen;
- Mchaina, Eunice Kabanyana;
- Høberg-Vetti, Hildegunn;
- Ariansen, Sarah Louise;
- Sjursen, Wenche;
- Van Ghelue, Marijke;
- Haukanes, Bjørn Ivar;
- Knappskog, Per Morten;
- Aukrust, Ingvild;
- Ognedal, Elisabet
Publication type:
Article
Genetic landscape of sporadic vestibular schwannoma.
Published in:
Journal of Neurosurgery, 2018, v. 128, n. 3, p. 911, doi. 10.3171/2016.10.JNS161384
By:
- Håvik, Aril Løge;
- Bruland, Ove;
- Myrseth, Erling;
- Miletic, Hrvoje;
- Aarhus, Mads;
- Knappskog, Per-Morten;
- Lund-Johansen, Morten
Publication type:
Article

Found: 21