Publications by authors named "Per M Knappskog"

65Publications

Early Stage Discovery and Validation of Pharmacological Chaperones for the Correction of Protein Misfolding Diseases.

Methods Mol Biol 2019 ;1873:279-292

Department of Biomedicine, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1007/978-1-4939-8820-4_18DOI Listing
May 2019

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Acta Ophthalmol 2017 May 24;95(3):240-246. Epub 2016 Oct 24.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1111/aos.13273DOI Listing
May 2017

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.

J Clin Endocrinol Metab 2016 08 2;101(8):2975-83. Epub 2016 Jun 2.

Department of Clinical Science (Ø.B., B.E.O., E.B., B.G.N., L.B., P.M.K., K.Lo., A.B.W., E.S.H.), University of Bergen, 5021 Bergen, Norway; Department of Medicine (Solna) (N.L., O.K.), Karolinska Institutet, 171 76 Stockholm, Sweden; Science for Life Laboratory (N.L.), Department of Medical Sciences, University of Uppsala, 751 05 Uppsala, Sweden; Department of Medicine (M.M.E., K.Lo., E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine (K.Li.,), Akershus University Hospital, 1474 Nordbyhagen, Norway; Department of Endocrinology (K.Li., A.P.J.), Oslo University Hospital, 0372 Oslo, Norway; Department of Pediatrics (A.G.M.), Oslo University Hospital, 0424 Oslo, Norway; Division of Internal Medicine (J.S.), University Hospital of North Norway, 9019 Tromsø, Norway; Institute of Clinical Medicine (J.S.), University of Tromsø, The Artic University of Norway, 9019 Tromsø, Norway; Department of Endocrinology (K.J.F.), St. Olavs Hospital, 7006 Trondheim, Norway; Department of Medicine (Å.B.), Stavanger University Hospital, 4011 Stavanger, Norway; Department of Medicine (B.G.N.), Haugesund Hospital, 5504 Haugesund, Norway; Department of Medicine (B.M.), Østfold Hospital, 1603 Fredrikstad, Norway; Department of Immunology (M.K.V.), Oslo University Hospital, 0372 Oslo, Norway; University of Oslo (M.K.V.), 0372 Oslo, Norway; Center for Medical Genetics and Molecular Medicine (P.M.K.), Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Dentistry (M.C.M.), Faculty of Medicine and Dentistry, University of Bergen, 5021 Bergen, Norway; and Oral Health Centre of Expertise in Western Norway (M.C.M.), 5021 Bergen, Norway.

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http://dx.doi.org/10.1210/jc.2016-1821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971337PMC
August 2016

Genome-wide analysis of attention deficit hyperactivity disorder in Norway.

PLoS One 2015 13;10(4):e0122501. Epub 2015 Apr 13.

K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway; Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122501PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395400PMC
January 2016

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

Am J Ophthalmol 2015 May 26;159(5):973-9.e2. Epub 2015 Jan 26.

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.01.021DOI Listing
May 2015

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Ann Clin Transl Neurol 2014 Nov 24;1(11):926-32. Epub 2014 Oct 24.

Department of Clinical Science, University of Bergen Bergen, Norway ; Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.

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http://dx.doi.org/10.1002/acn3.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265064PMC
November 2014

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

Hum Mutat 2014 Jul 3;35(7):880-90. Epub 2014 Jun 3.

Department of Biomedicine, University of Bergen, Bergen, Norway; K. G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/humu.22565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312968PMC
July 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 Infect Dis 2014 Feb 6;14:63. Epub 2014 Feb 6.

Department of Clinical Science, The Faculty of Medicine and Dentistry, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1186/1471-2334-14-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924402PMC
February 2014

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

J Neurol 2014 Feb 3;261(2):358-62. Epub 2013 Dec 3.

Department of Neurology, Haukeland University Hospital, Jonas Liesvei 65, 5021, Bergen, Norway,

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http://dx.doi.org/10.1007/s00415-013-7203-9DOI Listing
February 2014

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

Am J Ophthalmol 2013 May 6;155(5):946-53. Epub 2013 Feb 6.

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1016/j.ajo.2012.11.028DOI Listing
May 2013

Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease.

BMC Med Genet 2011 Aug 18;12:111. Epub 2011 Aug 18.

Institute of Medicine, University of Bergen, 5021 Bergen, Norway.

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http://dx.doi.org/10.1186/1471-2350-12-111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166911PMC
August 2011

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 2010 Oct;67(4):998-1019; discussion 1019

Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1227/NEU.0b013e3181ec7b71DOI Listing
October 2010

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.

Invest Ophthalmol Vis Sci 2010 Dec 11;51(12):6369-73. Epub 2010 Aug 11.

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1167/iovs.10-5597DOI Listing
December 2010

Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy.

Invest Ophthalmol Vis Sci 2010 Nov 19;51(11):5578-82. Epub 2010 May 19.

Department of Clinical Medicine, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1167/iovs.09-4933DOI Listing
November 2010

Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts.

Cerebrospinal Fluid Res 2010 Feb 26;7. Epub 2010 Feb 26.

Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://fluidsbarrierscns.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1743-8454-7-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841093PMC
February 2010

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

J Mol Diagn 2010 Jan 10;12(1):125-31. Epub 2009 Dec 10.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.2353/jmoldx.2010.090033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797727PMC
January 2010

Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas.

BMC Cancer 2009 Dec 8;9:425. Epub 2009 Dec 8.

Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1186/1471-2407-9-425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797817PMC
December 2009

Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.

Invest Ophthalmol Vis Sci 2010 Jan 6;51(1):47-52. Epub 2009 Aug 6.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1167/iovs.09-4251DOI Listing
January 2010

The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's disease.

J Autoimmun 2009 Aug 28;33(1):58-67. Epub 2009 Mar 28.

Department of Medicine, Section for Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1016/j.jaut.2009.02.018DOI Listing
August 2009

The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's disease.

J Autoimmun 2009 Aug 28;33(1):58-67. Epub 2009 Mar 28.

Department of Medicine, Section for Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1016/j.jaut.2009.02.018DOI Listing
August 2009

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.

Eur J Endocrinol 2008 May;158(5):705-9

Institute for Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1530/EJE-07-0843DOI Listing
May 2008

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Arch Ophthalmol 2008 Mar;126(3):428-30

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1001/archopht.126.3.428DOI Listing
March 2008

Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding.

Biochem J 2008 Feb;410(1):195-204

Department of Biomedicine, University of Bergen, Jonas Liesv. 91,5009 Bergen, Norway.

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http://dx.doi.org/10.1042/BJ20071033DOI Listing
February 2008

Epitope mapping of human aromatic L-amino acid decarboxylase.

Biochem Biophys Res Commun 2007 Feb 22;353(3):692-8. Epub 2006 Dec 22.

Department of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.bbrc.2006.12.080DOI Listing
February 2007

Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2.

J Neurochem 2007 Mar 23;100(6):1648-57. Epub 2006 Dec 23.

Department of Biomedicine, Section of Biochemistry and Molecular Biology, University of Bergen, Norway.

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http://dx.doi.org/10.1111/j.1471-4159.2006.04290.xDOI Listing
March 2007

A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.

Am J Ophthalmol 2006 Sep;142(3):520-1

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1016/j.ajo.2006.03.064DOI Listing
September 2006

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

Invest Ophthalmol Vis Sci 2005 Feb;46(2):420-6

Section of Ophthalmology, Department of Clinical Medicine, University of Bergen, Norway.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.04-0804DOI Listing
February 2005

Different properties of the central and peripheral forms of human tryptophan hydroxylase.

J Neurochem 2005 Jan;92(2):311-20

Department of Biomedicine, Section of Biochemistry and Molecular Biology, University of Bergen, Bergen, Norway.

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http://doi.wiley.com/10.1111/j.1471-4159.2004.02850.x
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http://dx.doi.org/10.1111/j.1471-4159.2004.02850.xDOI Listing
January 2005

Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1.

Eur J Endocrinol 2004 Jan;150(1):49-56

Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N-5021, Bergen, Norway.

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http://dx.doi.org/10.1530/eje.0.1500049DOI Listing
January 2004

Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris.

Protein Expr Purif 2004 Feb;33(2):185-94

Department of Biochemistry and Molecular Biology, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1016/j.pep.2003.09.014DOI Listing
February 2004

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

Am J Hum Genet 2003 Feb 31;72(2):375-83. Epub 2002 Dec 31.

Center for Medical Genetics and Molecular Medicine, University of Bergen, Norway.

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http://dx.doi.org/10.1086/346120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379230PMC
February 2003

Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin.

Biochemistry 2002 Oct;41(42):12569-74

Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1021/bi026561fDOI Listing
October 2002

Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.

J Biol Chem 2002 Oct 15;277(43):40937-43. Epub 2002 Aug 15.

Department of Biochemistry and Molecular Biology, University of Bergen, Arstadveien 19, 5009-Bergen, Norway.

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http://dx.doi.org/10.1074/jbc.M112197200DOI Listing
October 2002

Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.

Eur J Endocrinol 2002 Apr;146(4):519-22

Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1530/eje.0.1460519DOI Listing
April 2002