His primary areas of study are Genetics, Exome, Internal medicine, Exome sequencing and Genetic association. All of his Genetics and Allele, Gene, Genetic testing, Bardet–Biedl syndrome and Sensenbrenner syndrome investigations are sub-components of the entire Genetics study. Per M. Knappskog studied Gene and Molecular biology that intersect with Biochemistry, Enzyme and Microcephaly.
His studies deal with areas such as Genome-wide association study, Cilium, Molecular diagnostics and Sanger sequencing, DNA sequencing as well as Exome. Per M. Knappskog has included themes like Ataxia, Endocrinology and Exon in his Internal medicine study. The Exome sequencing study combines topics in areas such as Ciliopathies and Encephalopathy.
Per M. Knappskog mainly focuses on Genetics, Molecular biology, Pathology, Internal medicine and Gene. His Genetics study is mostly concerned with Allele, Exome sequencing, Mutation, Single-nucleotide polymorphism and Exome. The concepts of his Exome sequencing study are interwoven with issues in Sanger sequencing, Ataxia and Frameshift mutation.
His Molecular biology research includes themes of Biochemistry, Enzyme, Phenylalanine hydroxylase, Spinocerebellar ataxia and Polymerase chain reaction. His work on Dystrophy as part of his general Pathology study is frequently connected to Congenital stromal corneal dystrophy, thereby bridging the divide between different branches of science. His biological study spans a wide range of topics, including Endocrinology, Immunology and Oncology.
Genetics, Molecular biology, Gene, Exome sequencing and Genome-wide association study are his primary areas of study. His Genetics study focuses mostly on Penetrance, Exon, Copy-number variation, Cilium and Nephronophthisis. Per M. Knappskog interconnects Heat shock protein, Protein aggregation, Polymerase chain reaction and Protein folding in the investigation of issues within Molecular biology.
His Gene research is multidisciplinary, incorporating perspectives in Parkinson's disease and Autoimmune regulator. The study incorporates disciplines such as Ataxia, Neurodegeneration, Mitochondrial DNA and Pathology in addition to Exome sequencing. His Autoimmune polyendocrine syndrome type 1 research is multidisciplinary, relying on both Autoantibody and Endocrinology.
His primary scientific interests are in Genetics, Gene, Neurodegeneration, Molecular biology and WDR45. Phenotype, Nephronophthisis, Fibroblast, Polymerase chain reaction and Genetic variation are subfields of Genetics in which his conducts study. As part of his studies on Gene, Per M. Knappskog often connects relevant areas like Cilium.
His Neurodegeneration research integrates issues from Exome sequencing, Mitochondrial DNA, Mitochondrial DNA replication, Nonsynonymous substitution and Parkinson's disease. His studies in Molecular biology integrate themes in fields like Stargardt disease, Exon, Messenger RNA, ABCA4 and splice. His research integrates issues of Neurology, Highly variable phenotype, Bioinformatics and Beta-propeller in his study of WDR45.
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A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
Arcos-Burgos M;Jain M;Acosta Mt;Shively S.
Molecular Psychiatry (2010)
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
Knappskog Pm;Flatmark T;Mallet J;Lüdecke B.
Human Molecular Genetics (1995)
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.
A Martinez;P M Knappskog;S Olafsdottir;A P Døskeland.
Biochemical Journal (1995)
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
Anette S. B. Wolff;Martina M. Erichsen;Anthony Meager;Ng’weina Francis Magitta;Ng’weina Francis Magitta.
The Journal of Clinical Endocrinology and Metabolism (2007)
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand.
American Journal of Human Genetics (2011)
Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene
Barbara Lüdecke;Per M. Knappskog;Peter T. Clayton;Robert A. H. Surtees.
Human Molecular Genetics (1996)
Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD.
Barbara Franke;Alejandro Arias Vasquez;Stefan Johansson;Stefan Johansson;Martine Hoogman.
Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin.
Lin Wang;Heidi Erlandsen;Jan Haavik;Per M. Knappskog.
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Torunn Fiskerstrand;Dorra H'mida-Ben Brahim;Stefan Johansson;Abderrahim M'zahem.
American Journal of Human Genetics (2010)
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.
N F Magitta;N F Magitta;A S Bøe Wolff;S Johansson;B Skinningsrud.
Genes and Immunity (2009)
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