Neurogenetics Research Group
Publications 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 369
DOI 10.1186/s13023-024-03296-6, PubMed 39375751
Citalopram exposure of hESCs during neuronal differentiation identifies dysregulated genes involved in neurodevelopment and depression
Front Cell Dev Biol, 12, 1428538
DOI 10.3389/fcell.2024.1428538, PubMed 39055655
Publications 2023
No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
Transl Psychiatry, 13 (1), 61
DOI 10.1038/s41398-023-02358-w, PubMed 36807331
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Biol Psychiatry, 95 (2), 147-160
DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008
Cytokine Patterns as Predictors of Antibiotic Treatment Effect in Chronic Low Back Pain with Modic Changes: Subgroup Analyses of a Randomized Trial (AIM Study)
J Pain Res, 16, 1713-1724
DOI 10.2147/JPR.S406079, PubMed 37252109
Longitudinal changes of serum cytokines in patients with chronic low back pain and Modic changes
Osteoarthritis Cartilage, 31 (4), 543-547
DOI 10.1016/j.joca.2023.01.001, PubMed 36640896
Health-related quality of life in adults with drug-resistant focal epilepsy treated with modified Atkins diet in a randomized clinical trial
Epilepsia, 64 (5), e69-e74
DOI 10.1111/epi.17585, PubMed 36923995
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928
Stress biomarkers in adult patients with drug-resistant epilepsy on a modified Atkins diet: A prospective study
Epilepsia Open, 8 (4), 1331-1339
DOI 10.1002/epi4.12808, PubMed 37574592
Does maternal genetic liability to folate deficiency influence the risk of antiseizure medication-associated language impairment and autistic traits in children of women with epilepsy?
Am J Clin Nutr, 118 (1), 303-313
DOI 10.1016/j.ajcnut.2023.05.023, PubMed 37217097
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia
Mov Disord, 38 (4), 654-664
DOI 10.1002/mds.29324, PubMed 36695111
No impact of prenatal paracetamol and folic acid exposure on cord blood DNA methylation in children with attention-deficit/hyperactivity disorder
Front Genet, 14, 1204879
DOI 10.3389/fgene.2023.1204879, PubMed 37396039
Effects of prenatal exposure to (es)citalopram and maternal depression during pregnancy on DNA methylation and child neurodevelopment
Transl Psychiatry, 13 (1), 149
DOI 10.1038/s41398-023-02441-2, PubMed 37147306
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open, 8 (3), 858-866
DOI 10.1002/epi4.12746, PubMed 37057954
Psychiatric comorbidity in relation to clinical characteristics of epilepsy: A retrospective observational study
Seizure, 110, 136-143
DOI 10.1016/j.seizure.2023.06.011, PubMed 37379699
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
NPJ Genom Med, 8 (1), 28
DOI 10.1038/s41525-023-00370-z, PubMed 37770509
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
Brain Commun, 5 (3), fcad182
DOI 10.1093/braincomms/fcad182, PubMed 37361715
Multi-omics approach reveals dysregulated genes during hESCs neuronal differentiation exposure to paracetamol
iScience, 26 (10), 107755
DOI 10.1016/j.isci.2023.107755, PubMed 37731623
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010
Long-Term Use of Amoxicillin Is Associated with Changes in Gene Expression and DNA Methylation in Patients with Low Back Pain and Modic Changes
Antibiotics (Basel), 12 (7)
DOI 10.3390/antibiotics12071217, PubMed 37508313
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439
Publications 2022
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Nat Commun, 13 (1), 1822
DOI 10.1038/s41467-022-29280-x, PubMed 35383156
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, 145 (4), 1299-1309
DOI 10.1093/brain/awab391, PubMed 34633442
Substantial early changes in bone and calcium metabolism among adult pharmacoresistant epilepsy patients on a modified Atkins diet
Epilepsia, 63 (4), 880-891
DOI 10.1111/epi.17169, PubMed 35092022
Modeling dependency structures in 450k DNA methylation data
Bioinformatics, 38 (4), 885-891
DOI 10.1093/bioinformatics/btab774, PubMed 34788815
Low reliability of DNA methylation across Illumina Infinium platforms in cord blood: implications for replication studies and meta-analyses of prenatal exposures
Clin Epigenetics, 14 (1), 80
DOI 10.1186/s13148-022-01299-3, PubMed 35765087
Genome-wide decrease in DNA methylation in adults with epilepsy treated with modified ketogenic diet: A prospective study
Epilepsia, 63 (9), 2413-2426
DOI 10.1111/epi.17351, PubMed 35762681
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol, 10, 783762
DOI 10.3389/fcell.2022.783762, PubMed 35295849
A multi-omics approach to visualize early neuronal differentiation from hESCs in 4D
iScience, 25 (11), 105279
DOI 10.1016/j.isci.2022.105279, PubMed 36304110
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Sci Rep, 12 (1), 2785
DOI 10.1038/s41598-022-06324-2, PubMed 35190554
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
Front Pediatr, 10, 965282
DOI 10.3389/fped.2022.965282, PubMed 35979408
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
EClinicalMedicine, 53, 101732
DOI 10.1016/j.eclinm.2022.101732, PubMed 36467455
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095
Publications 2021
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757
Macrophage migration inhibitory factor: a potential biomarker for chronic low back pain in patients with Modic changes
RMD Open, 7 (2)
DOI 10.1136/rmdopen-2021-001726, PubMed 34344830
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091
Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review
Front Genet, 12, 645555
DOI 10.3389/fgene.2021.645555, PubMed 33981330
Methotrexate Treatment of Newly Diagnosed RA Patients Is Associated With DNA Methylation Differences at Genes Relevant for Disease Pathogenesis and Pharmacological Action
Front Immunol, 12, 713611
DOI 10.3389/fimmu.2021.713611, PubMed 34867944
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192
Prenatal medication exposure and epigenetic outcomes: a systematic literature review and recommendations for prenatal pharmacoepigenetic studies
Epigenetics, 17 (4), 357-380
DOI 10.1080/15592294.2021.1903376, PubMed 33926354
[Shoshin beriberi]
Tidsskr Nor Laegeforen, 141 (6)
DOI 10.4045/tidsskr.21.0215, PubMed 33876616
Publications 2020
Differential Glial Activation in Early Epileptogenesis-Insights From Cell-Specific Analysis of DNA Methylation and Gene Expression in the Contralateral Hippocampus
Front Neurol, 11, 573575
DOI 10.3389/fneur.2020.573575, PubMed 33312155
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Genet Med, 22 (7), 1215-1226
DOI 10.1038/s41436-020-0792-7, PubMed 32376980
The effect of infliximab in patients with chronic low back pain and Modic changes (the BackToBasic study): study protocol of a randomized, double blind, placebo-controlled, multicenter trial
BMC Musculoskelet Disord, 21 (1), 698
DOI 10.1186/s12891-020-03720-5, PubMed 33087100
Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells
Front Immunol, 11, 194
DOI 10.3389/fimmu.2020.00194, PubMed 32117312
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
J Inherit Metab Dis, 43 (4), 726-736
DOI 10.1002/jimd.12211, PubMed 32391929
The impact of gender, puberty, and pregnancy in patients with POLG disease
Ann Clin Transl Neurol, 7 (10), 2019-2025
DOI 10.1002/acn3.51199, PubMed 32949115
Mental health and health related quality of life in mitochondrial POLG disease
Mitochondrion, 55, 95-99
DOI 10.1016/j.mito.2020.09.005, PubMed 32976988
Effects of modified Atkins diet on thyroid function in adult patients with pharmacoresistant epilepsy
Epilepsy Behav, 111, 107285
DOI 10.1016/j.yebeh.2020.107285, PubMed 32698106
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
J Neurol Sci, 419, 117211
DOI 10.1016/j.jns.2020.117211, PubMed 33160247
Trait impulsivity in Juvenile Myoclonic Epilepsy
Ann Clin Transl Neurol, 8 (1), 138-152
DOI 10.1002/acn3.51255, PubMed 33264519
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889
Publications 2019
Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
Front Endocrinol (Lausanne), 10, 648
DOI 10.3389/fendo.2019.00648, PubMed 31611844
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease
J Transl Autoimmun, 1, 100005
DOI 10.1016/j.jtauto.2019.100005, PubMed 32743495
Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis
PLoS One, 14 (12), e0226575
DOI 10.1371/journal.pone.0226575, PubMed 31887157
Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data
Clin Epigenetics, 11 (1), 125
DOI 10.1186/s13148-019-0717-y, PubMed 31455416
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209
Pharmacokinetic interaction between modified Atkins diet and antiepileptic drugs in adults with drug-resistant epilepsy
Epilepsia, 60 (11), 2235-2244
DOI 10.1111/epi.16364, PubMed 31602644
Long-term follow-up, quality of life, and survival of patients with Lambert-Eaton myasthenic syndrome
Neurology, 94 (5), e511-e520
DOI 10.1212/WNL.0000000000008747, PubMed 31831596
[Pyruvate dehydrogenase deficiency]
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291
Publications 2018
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
Neuromuscul Disord, 28 (8), 639-645
DOI 10.1016/j.nmd.2018.06.004, PubMed 30001926
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
JAMA Neurol, 75 (5), 591-599
DOI 10.1001/jamaneurol.2017.5121, PubMed 29482223
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Epilepsia, 59 (8), 1595-1602
DOI 10.1111/epi.14459, PubMed 29920680
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
J Inherit Metab Dis, 41 (1), 153
DOI 10.1007/s10545-017-0092-9, PubMed 28952135
Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
PLoS One, 13 (12), e0208699
DOI 10.1371/journal.pone.0208699, PubMed 30540848
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
Epilepsia, 59 (8), 1567-1576
DOI 10.1111/epi.14457, PubMed 29901816
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Brain, 141 (12), 3331-3342
DOI 10.1093/brain/awy285, PubMed 30476002
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy
Muscle Nerve, 59 (3), 354-357
DOI 10.1002/mus.26348, PubMed 30246259
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542
Publications 2017
Prevalence and clinical aspects of immigrants with myasthenia gravis in northern Europe
Muscle Nerve, 55 (6), 819-827
DOI 10.1002/mus.25408, PubMed 27641227
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology, 104, 70-76
DOI 10.1016/j.urology.2017.02.023, PubMed 28232177
Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD
Clin Epigenetics, 9, 77
DOI 10.1186/s13148-017-0376-9, PubMed 28785368
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Neurology, 89 (10), 1043-1049
DOI 10.1212/WNL.0000000000004311, PubMed 28794257
The presence of anaemia negatively influences survival in patients with POLG disease
J Inherit Metab Dis, 40 (6), 861-866
DOI 10.1007/s10545-017-0084-9, PubMed 28865037
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
DOI 10.1371/journal.pone.0174667, PubMed 28362824
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (10), e0186571
DOI 10.1371/journal.pone.0186571, PubMed 29023604
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
DOI 10.1038/ejhg.2017.27, PubMed 28327570
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
Epilepsy Behav, 70 (Pt A), 1-4
DOI 10.1016/j.yebeh.2017.02.016, PubMed 28407523
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853
Cancer and neurodegeneration: Time to move beyond Janus?
Neurology, 88 (12), 1106-1107
DOI 10.1212/WNL.0000000000003727, PubMed 28202693
Publications 2016
Increased risk for clinical onset of myasthenia gravis during the postpartum period
Neurology, 87 (20), 2139-2145
DOI 10.1212/WNL.0000000000003339, PubMed 27770065
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082
Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
Clin Epigenetics, 8, 110
DOI 10.1186/s13148-016-0277-3, PubMed 27785156
Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
Epigenetics, 11 (9), 690-698
DOI 10.1080/15592294.2016.1214782, PubMed 27494297
[Myasthenia gravis - optimal treatment and accurate diagnosis]
Tidsskr Nor Laegeforen, 136 (12-13), 1089-94
DOI 10.4045/tidsskr.15.1259, PubMed 27381787
A polymorphic Alu insertion that mediates distinct disease-associated deletions
Eur J Hum Genet, 24 (9), 1371-4
DOI 10.1038/ejhg.2016.20, PubMed 26932189
Benign hereditary chorea, not only chorea: a family case presentation
Cerebellum Ataxias, 3, 3
DOI 10.1186/s40673-016-0041-7, PubMed 26839702
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies
Mov Disord Clin Pract, 3 (3), 230-240
DOI 10.1002/mdc3.12315, PubMed 30363623
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study
BMC Neurol, 16 (1), 252
DOI 10.1186/s12883-016-0771-4, PubMed 27919248
Titin antibodies in "seronegative" myasthenia gravis--A new role for an old antigen
J Neuroimmunol, 292, 108-15
DOI 10.1016/j.jneuroim.2016.01.018, PubMed 26943968
Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
Front Immunol, 7, 510
DOI 10.3389/fimmu.2016.00510, PubMed 27909437
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
Epilepsia, 58 (1), 105-112
DOI 10.1111/epi.13613, PubMed 27861775
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
Bioinformatics, 32 (10), 1592-4
DOI 10.1093/bioinformatics/btw046, PubMed 26819469
Publications 2015
An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts
Health Qual Life Outcomes, 13, 115
DOI 10.1186/s12955-015-0298-1, PubMed 26232146
Geographical Distribution of Myasthenia Gravis in Northern Europe--Results from a Population-Based Study from Two Countries
Neuroepidemiology, 44 (4), 221-31
DOI 10.1159/000431036, PubMed 26068011
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Brain, 138 (Pt 8), 2191-205
DOI 10.1093/brain/awv143, PubMed 26026163
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
Clin Case Rep, 4 (2), 177-81
DOI 10.1002/ccr3.434, PubMed 26862418
A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy
Epilepsy Behav, 53, 197-201
DOI 10.1016/j.yebeh.2015.10.021, PubMed 26588588
Survival and severity in dominant cerebellar ataxias
Ann Clin Transl Neurol, 2 (2), 202-7
DOI 10.1002/acn3.156, PubMed 25750924
Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat
Clin Epigenetics, 7 (1), 39
DOI 10.1186/s13148-015-0073-5, PubMed 25866590
MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study
J Neuroimmunol, 284, 10-7
DOI 10.1016/j.jneuroim.2015.04.015, PubMed 26025053
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
Orphanet J Rare Dis, 10, 108
DOI 10.1186/s13023-015-0328-4, PubMed 26338206
Publications 2014
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
Ann Clin Transl Neurol, 1 (5), 329-39
DOI 10.1002/acn3.51, PubMed 25356403
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
J Neuroimmunol, 274 (1-2), 174-9
DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy
Neurology, 82 (19), 1678-83
DOI 10.1212/WNL.0000000000000415, PubMed 24719486
Age-dependent penetrance among females with X-linked adrenoleukodystrophy
Brain, 138 (Pt 2), e325
DOI 10.1093/brain/awu232, PubMed 25149409
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurol Scand Suppl (198), 7-12
DOI 10.1111/ane.12230, PubMed 24588500
Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
Acta Neurol Scand, 131 (3), 187-90
DOI 10.1111/ane.12330, PubMed 25312999
Aicardi syndrome: an epidemiologic and clinical study in Norway
Pediatr Neurol, 52 (2), 182-6.e3
DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520
Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
Epilepsy Behav, 32, 76-8
DOI 10.1016/j.yebeh.2014.01.003, PubMed 24508593
Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
Epilepsy Behav, 39, 111-5
DOI 10.1016/j.yebeh.2014.08.015, PubMed 25240122
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038
Publications 2013
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis
Ann Neurol, 73 (3), 430-2
DOI 10.1002/ana.23833, PubMed 23444327
Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis
Mult Scler, 20 (6), 660-8
DOI 10.1177/1352458513506503, PubMed 24099750
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
Clin Endocrinol (Oxf), 79 (3), 316-20
DOI 10.1111/cen.12159, PubMed 23346902
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance
Pediatr Neurol, 48 (3), 212-9
DOI 10.1016/j.pediatrneurol.2012.12.007, PubMed 23419472
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nat Genet, 45 (11), 1353-60
DOI 10.1038/ng.2770, PubMed 24076602
Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients
PLoS One, 8 (6), e64408
DOI 10.1371/journal.pone.0064408, PubMed 23785401
Copy number variants in adult patients with Lennox-Gastaut syndrome features
Epilepsy Res, 105 (1-2), 110-7
DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449
Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
PLoS One, 8 (4), e60970
DOI 10.1371/journal.pone.0060970, PubMed 23613766
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
PLoS One, 8 (3), e58352
DOI 10.1371/journal.pone.0058352, PubMed 23472185
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study
Dev Med Child Neurol, 55 (5), 440-7
DOI 10.1111/dmcn.12096, PubMed 23448551
Autosomal dominant hereditary ataxia in Sri Lanka
BMC Neurol, 13, 39
DOI 10.1186/1471-2377-13-39, PubMed 23634774
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm
BMC Neurol, 13, 186
DOI 10.1186/1471-2377-13-186, PubMed 24289098
A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis
J Autoimmun, 52, 139-45
DOI 10.1016/j.jaut.2013.12.004, PubMed 24373505
Publications 2012
DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
PLoS Genet, 8 (1), e1002454
DOI 10.1371/journal.pgen.1002454, PubMed 22291603
Limitations and possibilities of low cell number ChIP-seq
BMC Genomics, 13, 645
DOI 10.1186/1471-2164-13-645, PubMed 23171294
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08
Ann Neurol, 72 (6), 927-35
DOI 10.1002/ana.23691, PubMed 23055271
From genes to characteristics of multiple sclerosis
Acta Neurol Scand Suppl (195), 76-83
DOI 10.1111/ane.12027, PubMed 23278661
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
Hum Mol Genet, 21 (26), 5472-83
DOI 10.1093/hmg/dds392, PubMed 23001565
Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus
Genes Immun, 14 (1), 62-6
DOI 10.1038/gene.2012.52, PubMed 23151489
[Dravet syndrome as a cause of epilepsy and learning disability]
Tidsskr Nor Laegeforen, 132 (1), 44-7
DOI 10.4045/tidsskr.11.0539, PubMed 22240828
Smoking and socio-economic status may affect myasthenia gravis
Eur J Neurol, 20 (3), 453-460
DOI 10.1111/j.1468-1331.2012.03843.x, PubMed 22934661
Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
PLoS One, 7 (5), e36603
DOI 10.1371/journal.pone.0036603, PubMed 22590574
Polymorphisms of the BDNF gene show neither association with multiple sclerosis susceptibility nor clinical course
J Neuroimmunol, 244 (1-2), 107-10
DOI 10.1016/j.jneuroim.2012.01.011, PubMed 22341604
Pet keeping and tobacco exposure influence CD14 methylation in childhood
Pediatr Allergy Immunol, 23 (8), 747-54
DOI 10.1111/pai.12021, PubMed 23194293
The Norwegian Twin Registry from a public health perspective: a research update
Twin Res Hum Genet, 16 (1), 285-95
DOI 10.1017/thg.2012.117, PubMed 23186607
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
Eur J Med Genet, 55 (12), 715-8
DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012
[Juvenile myoclonic epilepsy]
Tidsskr Nor Laegeforen, 132 (14), 1610-3
DOI 10.4045/tidsskr.11.1518, PubMed 22875125
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
Arch Neurol, 69 (4), 500-8
DOI 10.1001/archneurol.2011.2713, PubMed 22491195
Publications 2011
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients
Muscle Nerve, 43 (4), 574-7
DOI 10.1002/mus.21919, PubMed 21305573
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
Eur J Neurol, 18 (2), 207-217
DOI 10.1111/j.1468-1331.2010.03069.x, PubMed 20500522
Extensive variation and low heritability of DNA methylation identified in a twin study
Genome Res, 21 (11), 1813-21
DOI 10.1101/gr.119685.110, PubMed 21948560
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Nature, 476 (7359), 214-9
DOI 10.1038/nature10251, PubMed 21833088
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
Acta Neurol Scand, 125 (2), 116-22
DOI 10.1111/j.1600-0404.2011.01504.x, PubMed 21434874
[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
Tidsskr Nor Laegeforen, 131 (8), 828-31
PubMed 21556087
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855
Multiple loci in the HLA complex are associated with Addison's disease
J Clin Endocrinol Metab, 96 (10), E1703-8
DOI 10.1210/jc.2011-0645, PubMed 21816777
Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655
Eur J Hum Genet, 19 (10), 1100-3
DOI 10.1038/ejhg.2011.88, PubMed 21610746
Publications 2010
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
Eur J Neurol, 17 (5), 641-8
DOI 10.1111/j.1468-1331.2010.02985.x, PubMed 20298421
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene
Am J Hum Genet, 86 (2), 285-91
DOI 10.1016/j.ajhg.2010.01.017, PubMed 20159113
Association to the Glypican-5 gene in multiple sclerosis
J Neuroimmunol, 226 (1-2), 194-7
DOI 10.1016/j.jneuroim.2010.07.003, PubMed 20692050
Development and validation of a self-administered questionnaire for myasthenia gravis patients
Neuroepidemiology, 34 (4), 253-61
DOI 10.1159/000297753, PubMed 20299807
Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus
Genes Immun, 12 (3), 191-8
DOI 10.1038/gene.2010.59, PubMed 21179112
CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
J Allergy Clin Immunol, 125 (6), 1361-8
DOI 10.1016/j.jaci.2010.02.010, PubMed 20398919
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
Eur J Hum Genet, 18 (9), 1065-7
DOI 10.1038/ejhg.2010.68, PubMed 20461110
Multi-system neurological disease is common in patients with OPA1 mutations
Brain, 133 (Pt 3), 771-86
DOI 10.1093/brain/awq007, PubMed 20157015
Publications 2009
A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma
Genes Immun, 10 (2), 181-7
DOI 10.1038/gene.2008.100, PubMed 19148143
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
Eur J Neurol, 16 (12), 1255-64
DOI 10.1111/j.1468-1331.2009.02811.x, PubMed 19950421
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
Eur J Neurol, 17 (2), 179-88
DOI 10.1111/j.1468-1331.2009.02873.x, PubMed 20050888
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
Hum Mutat, 30 (2), E376-85
DOI 10.1002/humu.20920, PubMed 18853458
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias
Eur J Neurol, 16 (7), 777-85
DOI 10.1111/j.1468-1331.2009.02646.x, PubMed 19469830
Ataxia with vitamin E deficiency in southeast Norway, case report
Acta Neurol Scand Suppl (189), 42-5
DOI 10.1111/j.1600-0404.2009.01214.x, PubMed 19566498
Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis
Ann Neurol, 65 (6), 658-66
DOI 10.1002/ana.21695, PubMed 19630074
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
Eur J Hum Genet, 18 (4), 502-4
DOI 10.1038/ejhg.2009.195, PubMed 19888296
Genome-wide linkage analysis with clustered SNP markers
J Biomol Screen, 14 (1), 92-6
DOI 10.1177/1087057108327327, PubMed 19171925
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clin Genet, 76 (4), 398-403
DOI 10.1111/j.1399-0004.2009.01208.x, PubMed 19673951
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene
Acta Ophthalmol, 88 (3), 323-8
DOI 10.1111/j.1755-3768.2008.01465.x, PubMed 19183411
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features
Epilepsy Behav, 16 (3), 555-7
DOI 10.1016/j.yebeh.2009.08.021, PubMed 19782004
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
J Clin Endocrinol Metab, 94 (10), 4086-93
DOI 10.1210/jc.2009-0923, PubMed 19773398
Miglustat therapy in juvenile Sandhoff disease
J Inherit Metab Dis, 32 Suppl 1, S289-93
DOI 10.1007/s10545-009-1224-7, PubMed 19898953
O-demethylation of codeine to morphine inhibited by low-dose levomepromazine
Eur J Clin Pharmacol, 65 (8), 795-801
DOI 10.1007/s00228-009-0640-9, PubMed 19308365
Publications 2008
Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes
Diabetologia, 51 (4), 589-96
DOI 10.1007/s00125-008-0932-0, PubMed 18292987
Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations
J Neurol Sci, 277 (1-2), 124-9
DOI 10.1016/j.jns.2008.10.030, PubMed 19084842
SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta Neurol Scand Suppl, 188, 46-50
DOI 10.1111/j.1600-0404.2008.01031.x, PubMed 18439221
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287
SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing? Comment
Acta Neurol. Scand., 118 (5), 346
DOI 10.1111/j.1600-0404.2008.01061.x
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
Eur J Hum Genet, 16 (8), 977-82
DOI 10.1038/ejhg.2008.33, PubMed 18301444
[Hereditary ataxias]
Tidsskr Nor Laegeforen, 128 (17), 1977-80
PubMed 18787576
Publications 2007
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Eur J Neurol, 14 (7), 809-14
DOI 10.1111/j.1468-1331.2007.01861.x, PubMed 17594340
Phenotype of adult Refsum disease due to a defect in peroxin 7
Neurology, 68 (9), 698-700
DOI 10.1212/01.wnl.0000255960.01644.39, PubMed 17325280
Cerebellar ataxia in the eastern and southern parts of Norway
Acta Neurol Scand Suppl, 187, 76-9
DOI 10.1111/j.1600-0404.2007.00853.x, PubMed 17419835
T cell-specific T-box transcription factor haplotype is associated with allergic asthma in children
J Allergy Clin Immunol, 121 (1), 51-6
DOI 10.1016/j.jaci.2007.07.068, PubMed 17949803
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Brain, 131 (Pt 3), 772-84
DOI 10.1093/brain/awm293, PubMed 18079167
Publications 2006
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
J Med Genet, 44 (4), 281-4
DOI 10.1136/jmg.2006.046425, PubMed 17098887
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555
Hum Genet, 118 (6), 782
PubMed 17297711
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516
Hum Genet, 118 (6), 785
PubMed 17297722
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519
Hum Genet, 118 (6), 776
PubMed 17297686
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552
Hum Genet, 118 (6), 781
PubMed 17297708
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553
Hum Genet, 118 (6), 782
PubMed 17297709
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554
Hum Genet, 118 (6), 782
PubMed 17297710
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556
Hum Genet, 118 (6), 782
PubMed 17297712
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557
Hum Genet, 118 (6), 783
PubMed 17297713
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515
Hum Genet, 118 (6), 785
PubMed 17297721
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Neurology, 66 (5), 654-9
DOI 10.1212/01.wnl.0000201185.91110.15, PubMed 16534102
The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis
Blood, 108 (2), 432-40
DOI 10.1182/blood-2005-06-2383, PubMed 16543475
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy
Genet Test, 10 (4), 258-64
DOI 10.1089/gte.2006.258-264, PubMed 17253931
Publications 2005
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
J Med Genet, 43 (3), 259-65
DOI 10.1136/jmg.2005.035311, PubMed 16055926
Publications 2004
[Genetics in movement disorders--dystonia, tremor and chorea]
Tidsskr Nor Laegeforen, 124 (17), 2236-7
PubMed 15356687
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
Arch Neurol, 61 (12), 1867-72
DOI 10.1001/archneur.61.12.1867, PubMed 15596607
[The genetics of movement disorders--spinocerebellar degenerations]
Tidsskr Nor Laegeforen, 124 (17), 2233-5
PubMed 15356686
Publications 2003
Subtle cognitive impairment but no dementia in patients with spastin mutations
Arch Neurol, 60 (8), 1113-8
DOI 10.1001/archneur.60.8.1113, PubMed 12925368
Publications 2002
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease
J Med Genet, 39 (2), E2
DOI 10.1136/jmg.39.2.e2, PubMed 11836371
Publications 2001
Recent advances in hereditary spastic paraplegia
Curr Opin Neurol, 14 (4), 457-63
DOI 10.1097/00019052-200108000-00005, PubMed 11470961
Publications 2000
Excitatory effect of thiamin on CA1 pyramidal neurones in rat hippocampal slices in vitro
Eur J Neurol, 7 (6), 693-8
DOI 10.1046/j.1468-1331.2000.00132.x, PubMed 11136357
Publications 1999
[Normal pressure hydrocephalus--evaluation of investigation procedures]
Tidsskr Nor Laegeforen, 119 (12), 1744-9
PubMed 10380589
Publications 1998
[Thiamine treatment today]
Tidsskr Nor Laegeforen, 118 (25), 3946-9
PubMed 9830340
Publications 1997
Determination of thiamin and its phosphate esters in human blood, plasma, and urine
Methods Enzymol, 279, 67-74
DOI 10.1016/s0076-6879(97)79010-4, PubMed 9211258
Postradiation lower motor neuron syndrome--a case report and brief literature review
Acta Oncol, 36 (3), 345-7
DOI 10.3109/02841869709001276, PubMed 9208910
Publications 1994
Carbohydrate-deficient transferrin and other markers of high alcohol consumption: a study of 502 patients admitted consecutively to a medical department
Alcohol Clin Exp Res, 18 (5), 1103-8
DOI 10.1111/j.1530-0277.1994.tb00088.x, PubMed 7847591
[Scurvy with simultaneous wet beriberi in 2 patients]
Tidsskr Nor Laegeforen, 114 (27), 3181-3
PubMed 7809869
Elevated plasma thiamin concentrations in patients with rhabdomyolysis
Clin Nutr, 13 (2), 123-4
DOI 10.1016/0261-5614(94)90071-x, PubMed 16843371
Publications 1993
Serum carbohydrate-deficient transferrin as a marker of alcohol consumption in patients with chronic liver diseases
Alcohol Clin Exp Res, 17 (2), 246-52
DOI 10.1111/j.1530-0277.1993.tb00757.x, PubMed 8488962
Thiamin and thiamin phosphate ester deficiency assessed by high performance liquid chromatography in four clinical cases of Wernicke encephalopathy
Alcohol Clin Exp Res, 17 (3), 712-6
DOI 10.1111/j.1530-0277.1993.tb00825.x, PubMed 8333605
Kinetics of thiamin and thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally
Eur J Clin Pharmacol, 44 (1), 73-8
DOI 10.1007/BF00315284, PubMed 8436160
Publications 1992
The concentration of thiamin and thiamin phosphate esters in patients with alcoholic liver cirrhosis
Alcohol Alcohol, 27 (5), 523-30
PubMed 1476555
Blood and serum thiamin and thiamin phosphate esters concentrations in patients with alcohol dependence syndrome before and after thiamin treatment
Alcohol Clin Exp Res, 16 (2), 320-5
DOI 10.1111/j.1530-0277.1992.tb01384.x, PubMed 1317136
Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals
Am J Clin Nutr, 56 (3), 559-64
DOI 10.1093/ajcn/56.3.559, PubMed 1503069
Publications 1991
Concomitant determination of thiamin and its phosphate esters in human blood and serum by high-performance liquid chromatography
J Chromatogr, 564 (1), 127-36
DOI 10.1016/0378-4347(91)80075-n, PubMed 1860908