Neurogenetics Research Group

Publications 2024

Mero IL, Orozco Rodriguez JM, Bjørgo K, Hankin RA, Krupinska E, Kulseth MA, Rossow MA, Knecht W (2024)
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512

Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M (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

Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M (2024)
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

Spildrejorde M, Leithaug M, Samara A, Aass HCD, Sharma A, Acharya G, Nordeng H, Gervin K, Lyle R (2024)
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

Boen R, Kaufmann T, Frei O, van der Meer D, Djurovic S, Andreassen OA, Selmer KK, Alnæs D, Sønderby IE (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

Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC et al. (2023)
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

Bråten LCH, Gjefsen E, Gervin K, Pripp AH, Skouen JS, Schistad E, Pedersen LM, Wigemyr M, Selmer KK, Aass HCD, Goll G, Brox JI, Espeland A, Grøvle L, Zwart JA, Storheim K, AIM-study group (2023)
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

Gjefsen E, Gervin K, Bråten LCH, Goll GL, Aass HCD, Schistad EI, Wigemyr M, Pedersen LM, Skouen JS, Vigeland MD, Selmer KK, Storheim K, Zwart JA (2023)
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

Kverneland M, Nakken KO, Hofoss D, Skogan AH, Iversen PO, Selmer KK, Lossius MI (2023)
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

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
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

Molteberg E, Thorsby PM, Kverneland M, Iversen PO, Selmer KK, Hofoss D, Nakken KO, Taubøll E (2023)
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

Nilsen Husebye ES, Romanowska J, Bjørke-Monsen AL, Gilhus NE, Selmer K, Gervin K, Riedel B, Bjørk MH (2023)
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

Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, Schöls L, Traschütz A, Fleszar Z, Dufke C, Vielhaber S, Machts J, Giordano I, Grobe-Einsler M, Klopstock T, Stendel C, Boesch S, Nachbauer W, Timmann-Braun D, Thieme AG, Kamm C, Dudesek A, Tallaksen C, Wedding I, Filla A et al. (2023)
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

Olstad EW, Nordeng HME, Lyle R, Gervin K (2023)
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

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2023)
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

Pedersen S, Kverneland M, Rudi K, Gervin K, Landmark CJ, Iversen PO, Selmer KK (2023)
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

Revdal E, Kolstad BP, Winsvold BS, Selmer KK, Morken G, Brodtkorb E (2023)
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

Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA et al. (2023)
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

Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A, BIOJUME Consortium , Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK (2023)
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

Spildrejorde M, Samara A, Sharma A, Leithaug M, Falck M, Modafferi S, Sundaram AYM, Acharya G, Nordeng H, Eskeland R, Gervin K, Lyle R (2023)
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

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
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

Vigeland MD, Flåm ST, Vigeland MD, Espeland A, Zucknick M, Wigemyr M, Bråten LCH, Gjefsen E, Zwart JA, Storheim K, Pedersen LM, Selmer K, Lie BA, Gervin K, The Aim Study Group (2023)
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

Wiedmann MKH, Steinsvåg IV, Dinh T, Vigeland MD, Larsson PG, Hjorthaug H, Sheng Y, Mero IL, Selmer KK (2023)
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

Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK (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

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2022)
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

Molteberg E, Taubøll E, Kverneland M, Iversen PO, Selmer KK, Nakken KO, Hofoss D, Thorsby PM (2022)
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

Nustad HE, Steinsland I, Ollikainen M, Cazaly E, Kaprio J, Benjamini Y, Gervin K, Lyle R (2022)
Modeling dependency structures in 450k DNA methylation data
Bioinformatics, 38 (4), 885-891
DOI 10.1093/bioinformatics/btab774, PubMed 34788815

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2022)
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

Pedersen S, Kverneland M, Nakken KO, Rudi K, Iversen PO, Gervin K, Selmer KK (2022)
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

Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R et al. (2022)
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

Samara A, Spildrejorde M, Sharma A, Falck M, Leithaug M, Modafferi S, Bjørnstad PM, Acharya G, Gervin K, Lyle R, Eskeland R (2022)
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

Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP et al. (2022)
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Sci Rep, 12 (1), 2785
DOI 10.1038/s41598-022-06324-2, PubMed 35190554

Stenshorne I, Syvertsen M, Ramm-Pettersen A, Henning S, Weatherup E, Bjørnstad A, Brüggemann N, Spetalen T, Selmer KK, Koht J (2022)
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

Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R, EpiPGX Consortium, Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE et al. (2022)
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

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR (2022)
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

Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (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

Gjefsen E, Gervin K, Goll G, Bråten LCH, Wigemyr M, Aass HCD, Vigeland MD, Schistad E, Pedersen LM, Pripp AH, Storheim K, Selmer KK, Zwart JA (2021)
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

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
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

Gomes JDA, Olstad EW, Kowalski TW, Gervin K, Vianna FSL, Schüler-Faccini L, Nordeng HME (2021)
Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review
Front Genet, 12, 645555
DOI 10.3389/fgene.2021.645555, PubMed 33981330

Guderud K, Sunde LH, Flåm ST, Mæhlen MT, Mjaavatten MD, Norli ES, Evenrød IM, Andreassen BK, Franzenburg S, Franke A, Rayner S, Gervin K, Lie BA (2021)
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

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A et al. (2021)
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192

Olstad EW, Nordeng HME, Gervin K (2021)
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

Tallaksen C, Narverud SF (2021)
[Shoshin beriberi]
Tidsskr Nor Laegeforen, 141 (6)
DOI 10.4045/tidsskr.21.0215, PubMed 33876616

Publications 2020

Berger TC, Vigeland MD, Hjorthaug HS, Nome CG, Taubøll E, Selmer KK, Heuser K (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

Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A et al. (2020)
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

Gjefsen E, Bråten LCH, Goll GL, Wigemyr M, Bolstad N, Valberg M, Schistad EI, Marchand GH, Granviken F, Selmer KK, Froholdt A, Haugen AJ, Dagestad MH, Vetti N, Bakland G, Lie BA, Haavardsholm EA, Nilsen AT, Holmgard TE, Kadar TI, Kvien T, Skouen JS, Grøvle L, Brox JI, Espeland A et al. (2020)
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

Guderud K, Sunde LH, Flåm ST, Mæhlen MT, Mjaavatten MD, Lillegraven S, Aga AB, Evenrød IM, Norli ES, Andreassen BK, Franzenburg S, Franke A, Haavardsholm EA, Rayner S, Gervin K, Lie BA (2020)
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

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2020)
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

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2020)
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

Hikmat O, Vederhus BJ, Benestad MR, Engeset IME, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Elgen IB, Bindoff LA (2020)
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

Molteberg E, Thorsby PM, Kverneland M, Iversen PO, Selmer KK, Nakken KO, Taubøll E (2020)
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

Prestsæter S, Koht J, Lamari F, Tallaksen CME, Hoven STJ, Vigeland MD, Selmer KK, Rydning SL (2020)
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
J Neurol Sci, 419, 117211
DOI 10.1016/j.jns.2020.117211, PubMed 33160247

Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ et al. (2020)
Trait impulsivity in Juvenile Myoclonic Epilepsy
Ann Clin Transl Neurol, 8 (1), 138-152
DOI 10.1002/acn3.51255, PubMed 33264519

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
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

Aslaksen S, Methlie P, Vigeland MD, Jøssang DE, Wolff AB, Sheng Y, Oftedal BE, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
Front Endocrinol (Lausanne), 10, 648
DOI 10.3389/fendo.2019.00648, PubMed 31611844

Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
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

Berger TC, Vigeland MD, Hjorthaug HS, Etholm L, Nome CG, Taubøll E, Heuser K, Selmer KK (2019)
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

Gervin K, Salas LA, Bakulski KM, van Zelm MC, Koestler DC, Wiencke JK, Duijts L, Moll HA, Kelsey KT, Kobor MS, Lyle R, Christensen BC, Felix JF, Jones MJ (2019)
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

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
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

Kverneland M, Taubøll E, Molteberg E, Veierød MB, Selmer KK, Nakken KO, Iversen PO (2019)
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

Lipka AF, Boldingh MI, van Zwet EW, Schreurs MWJ, Kuks JBM, Tallaksen CM, Titulaer MJ, Verschuuren JJGM (2019)
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

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
[Pyruvate dehydrogenase deficiency]
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
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

Stenshorne I, Rasmussen M, Salvanos P, Tallaksen CME, Bindoff LA, Koht J (2019)
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291

Publications 2018

Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R, Nebuchennykh M, Braathen GJ, Fagerheim T (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

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
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

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A et al. (2018)
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

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA (2018)
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Epilepsia, 59 (8), 1595-1602
DOI 10.1111/epi.14459, PubMed 29920680

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA (2018)
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

Hjorthaug HS, Gervin K, Mowinckel P, Munthe-Kaas MC (2018)
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

Kverneland M, Molteberg E, Iversen PO, Veierød MB, Taubøll E, Selmer KK, Nakken KO (2018)
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

Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A, SPATAX network (2018)
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

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
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

Samuelsson K, Radovic A, Press R, Auranen M, Ylikallio E, Tyynismaa H, KäRppä M, Veteläinen M, Peltola N, Mellgren SI, Mygland Å, Tallaksen C, Andersen H, Terkelsen AJ, Fontain F, Hietaharju A (2018)
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

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
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

Boldingh MI, Maniaol A, Brunborg C, Dekker L, Lipka A, Niks EH, Verschuuren J, Tallaksen C (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

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
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

Gervin K, Nordeng H, Ystrom E, Reichborn-Kjennerud T, Lyle R (2017)
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

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A et al. (2017)
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Neurology, 89 (10), 1043-1049
DOI 10.1212/WNL.0000000000004311, PubMed 28794257

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA (2017)
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

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M (2017)
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
DOI 10.1371/journal.pone.0174667, PubMed 28362824

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CME, Toft M (2017)
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (10), e0186571
DOI 10.1371/journal.pone.0186571, PubMed 29023604

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
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

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
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

Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2017)
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

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905

Tallaksen CM, Müller U (2017)
Cancer and neurodegeneration: Time to move beyond Janus?
Neurology, 88 (12), 1106-1107
DOI 10.1212/WNL.0000000000003727, PubMed 28202693

Publications 2016

Boldingh MI, Maniaol AH, Brunborg C, Weedon-Fekjær H, Verschuuren JJ, Tallaksen CM (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

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108

Gervin K, Andreassen BK, Hjorthaug HS, Carlsen KCL, Carlsen KH, Undlien DE, Lyle R, Munthe-Kaas MC (2016)
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

Gervin K, Page CM, Aass HC, Jansen MA, Fjeldstad HE, Andreassen BK, Duijts L, van Meurs JB, van Zelm MC, Jaddoe VW, Nordeng H, Knudsen GP, Magnus P, Nystad W, Staff AC, Felix JF, Lyle R (2016)
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

Gilhus NE, Kerty E, Løseth S, Mygland Å, Tallaksen C (2016)
[Myasthenia gravis - optimal treatment and accurate diagnosis]
Tidsskr Nor Laegeforen, 136 (12-13), 1089-94
DOI 10.4045/tidsskr.15.1259, PubMed 27381787

Jahic A, Erichsen AK, Deufel T, Tallaksen CM, Beetz C (2016)
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

Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM (2016)
Benign hereditary chorea, not only chorea: a family case presentation
Cerebellum Ataxias, 3, 3
DOI 10.1186/s40673-016-0041-7, PubMed 26839702

Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F (2016)
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667

Paap BK, Roeske S, Durr A, Schöls L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehéricy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, Tsuji S, Schulz JB, van de Warrenburg BP, Klockgether T (2016)
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies
Mov Disord Clin Pract, 3 (3), 230-240
DOI 10.1002/mdc3.12315, PubMed 30363623

Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
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

Simonsen CS, Celius EG, Brunborg C, Tallaksen C, Eriksen EF, Holmøy T, Moen SM (2016)
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

Stergiou C, Lazaridis K, Zouvelou V, Tzartos J, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Behin A, Sharshar T, De Baets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P, Szyluk B et al. (2016)
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

Svendsen AJ, Gervin K, Lyle R, Christiansen L, Kyvik K, Junker P, Nielsen C, Houen G, Tan Q (2016)
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

Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
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

Vigeland MD, Gjøtterud KS, Selmer KK (2016)
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

Boldingh MI, Dekker L, Maniaol AH, Brunborg C, Lipka AF, Niks EH, Verschuuren JJ, Tallaksen CM (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

Boldingh MI, Maniaol AH, Brunborg C, Dekker L, Heldal AT, Lipka AF, Popperud TH, Niks EH, Verschuuren JJ, Tallaksen CM (2015)
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

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM et al. (2015)
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

Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
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

Horn MA, Mikaelsen KB, Ferdinandusse S, Jørum E, Mellgren SI, Retterstøl L, Wanders RJ, Tallaksen CM (2015)
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

Kverneland M, Selmer KK, Nakken KO, Iversen PO, Taubøll E (2015)
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

Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A (2015)
Survival and severity in dominant cerebellar ataxias
Ann Clin Transl Neurol, 2 (2), 202-7
DOI 10.1002/acn3.156, PubMed 25750924

Ollikainen M, Ismail K, Gervin K, Kyllönen A, Hakkarainen A, Lundbom J, Järvinen EA, Harris JR, Lundbom N, Rissanen A, Lyle R, Pietiläinen KH, Kaprio J (2015)
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

Tsonis AI, Zisimopoulou P, Lazaridis K, Tzartos J, Matsigkou E, Zouvelou V, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Behin A, Sharshar T, De Baets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A et al. (2015)
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

Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM (2015)
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

Avidan N, Le Panse R, Harbo HF, Bernasconi P, Poulas K, Ginzburg E, Cavalcante P, Colleoni L, Baggi F, Antozzi C, Truffault F, Horn-Saban S, Pöschel S, Zagoriti Z, Maniaol A, Lie BA, Bernard I, Saoudi A, Illes Z, Casasnovas Pons C, Melms A, Tzartos S, Willcox N, Kostera-Pruszczyk A, Tallaksen C et al. (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

Gustavsen MW, Viken MK, Celius EG, Berge T, Mero IL, Berg-Hansen P, Aarseth JH, Myhr KM, Søndergaard HB, Sellebjerg F, Oturai AB, Hillert J, Alfredsson L, Olsson T, Kockum I, Lie BA, Harbo HF (2014)
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

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
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

Horn MA, Nilsen KB, Jørum E, Mellgren SI, Tallaksen CM (2014)
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy
Neurology, 82 (19), 1678-83
DOI 10.1212/WNL.0000000000000415, PubMed 24719486

Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2014)
Age-dependent penetrance among females with X-linked adrenoleukodystrophy
Brain, 138 (Pt 2), e325
DOI 10.1093/brain/awu232, PubMed 25149409

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M (2014)
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

Kverneland M, Taubøll E, Selmer KK, Iversen PO, Nakken KO (2014)
Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
Acta Neurol Scand, 131 (3), 187-90
DOI 10.1111/ane.12330, PubMed 25312999

Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK (2014)
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

Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520

Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2014)
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

Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK (2014)
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

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
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

Ban M, Caillier S, Mero IL, Myhr KM, Celius EG, Aarseth J, Torkildsen Ø, Harbo HF, Oksenberg J, Hauser SL, Sawcer S, Compston A (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

Harbo HF, Isobe N, Berg-Hansen P, Bos SD, Caillier SJ, Gustavsen MW, Mero IL, Celius EG, Hauser SL, Oksenberg JR, Gourraud PA (2013)
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

Horn MA, Erichsen MM, Wolff AS, Månsson JE, Husebye ES, Tallaksen CM, Skjeldal OH (2013)
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

Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2013)
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

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M et al. (2013)
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

Leone MA, Barizzone N, Esposito F, Lucenti A, Harbo HF, Goris A, Kockum I, Oturai AB, Celius EG, Mero IL, Dubois B, Olsson T, Søndergaard HB, Cusi D, Lupoli S, Andreassen BK, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Myhr KM, Guerini FR, PROGEMUS Group, PROGRESSO Group, Comi G, Martinelli-Boneschi F, D'Alfonso S (2013)
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

Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
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

Maehlen MT, Provan SA, de Rooy DP, van der Helm-van Mil AH, Krabben A, Saxne T, Lindqvist E, Semb AG, Uhlig T, van der Heijde D, Mero IL, Olsen IC, Kvien TK, Lie BA (2013)
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

Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013)
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

Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK (2013)
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

Sumathipala DS, Abeysekera GS, Jayasekara RW, Tallaksen CM, Dissanayake VH (2013)
Autosomal dominant hereditary ataxia in Sri Lanka
BMC Neurol, 13, 39
DOI 10.1186/1471-2377-13-39, PubMed 23634774

Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM (2013)
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

Zisimopoulou P, Evangelakou P, Tzartos J, Lazaridis K, Zouvelou V, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Frenkian Cuvelier M, Stojkovic T, DeBaets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P et al. (2013)
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

Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nygård H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R (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

Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
Limitations and possibilities of low cell number ChIP-seq
BMC Genomics, 13, 645
DOI 10.1186/1471-2164-13-645, PubMed 23171294

Gregersen PK, Kosoy R, Lee AT, Lamb J, Sussman J, McKee D, Simpfendorfer KR, Pirskanen-Matell R, Piehl F, Pan-Hammarstrom Q, Verschuuren JJ, Titulaer MJ, Niks EH, Marx A, Ströbel P, Tackenberg B, Pütz M, Maniaol A, Elsais A, Tallaksen C, Harbo HF, Lie BA, Raychaudhuri S, de Bakker PI, Melms A et al. (2012)
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

Harbo HF, Mero IL (2012)
From genes to characteristics of multiple sclerosis
Acta Neurol Scand Suppl (195), 76-83
DOI 10.1111/ane.12027, PubMed 23278661

Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM (2012)
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

Leikfoss IS, Mero IL, Dahle MK, Lie BA, Harbo HF, Spurkland A, Berge T (2012)
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

Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO (2012)
[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

Maniaol AH, Boldingh M, Brunborg C, Harbo HF, Tallaksen CME (2012)
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

Maniaol AH, Elsais A, Lorentzen ÅR, Owe JF, Viken MK, Sæther H, Flåm ST, Bråthen G, Kampman MT, Midgard R, Christensen M, Rognerud A, Kerty E, Gilhus NE, Tallaksen CM, Lie BA, Harbo HF (2012)
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

Mero IL, Smestad C, Lie BA, Lorentzen ÅR, Sandvik L, Landrø NI, Aarseth JH, Myhr KM, Celius EG, Harbo HF (2012)
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

Munthe-Kaas MC, Bertelsen RJ, Torjussen TM, Hjorthaug HS, Undlien DE, Lyle R, Gervin K, Granum B, Mowinckel P, Carlsen KH, Carlsen KC (2012)
Pet keeping and tobacco exposure influence CD14 methylation in childhood
Pediatr Allergy Immunol, 23 (8), 747-54
DOI 10.1111/pai.12021, PubMed 23194293

Nilsen TS, Knudsen GP, Gervin K, Brandt I, Røysamb E, Tambs K, Orstavik R, Lyle R, Reichborn-Kjennerud T, Magnus P, Harris JR (2012)
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

Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
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

Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
[Juvenile myoclonic epilepsy]
Tidsskr Nor Laegeforen, 132 (14), 1610-3
DOI 10.4045/tidsskr.11.1518, PubMed 22875125

Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A (2012)
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

Alseth EH, Maniaol AH, Elsais A, Nakkestad HL, Tallaksen C, Gilhus NE, Skeie GO (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

Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Finsterer J (2011)
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

Gervin K, Hammerø M, Akselsen HE, Moe R, Nygård H, Brandt I, Gjessing HK, Harris JR, Undlien DE, Lyle R (2011)
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

Holmøy T, Braaten Ø, Hovden IA, Tallaksen CM (2011)
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
DOI 10.4045/tidsskr.09.1499, PubMed 21423311

International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B et al. (2011)
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

Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM (2011)
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

Ramm-Pettersen A, Selmer KK, Nakken KO (2011)
[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
Tidsskr Nor Laegeforen, 131 (8), 828-31
PubMed 21556087

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
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

Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, Akselsen HE, Gervin K, Wolff AB, Erichsen MM, Løvås K, Husebye ES, Undlien DE (2011)
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

Søndergaard HB, Sellebjerg F, Hillert J, Olsson T, Kockum I, Lindén M, Mero IL, Myhr KM, Celius EG, Harbo HF, Christensen JR, Börnsen L, Sørensen PS, Oturai AB (2011)
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

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T, EFNS (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

Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, Søndergaard HB, Harbo HF, Mero IL, Gabriel SB, Mirel DB, Hauser SL, Kappos L, Polman C, De Jager PL, Hafler DA et al. (2010)
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

Lorentzen AR, Melum E, Ellinghaus E, Smestad C, Mero IL, Aarseth JH, Myhr KM, Celius EG, Lie BA, Karlsen TH, Franke A, Harbo HF (2010)
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

Maniaol AH, Brunborg C, Tallaksen CM (2010)
Development and validation of a self-administered questionnaire for myasthenia gravis patients
Neuroepidemiology, 34 (4), 253-61
DOI 10.1159/000297753, PubMed 20299807

Mero IL, Ban M, Lorentzen ÅR, Smestad C, Celius EG, Sæther H, Saeedi H, Viken MK, Skinningsrud B, Undlien DE, Aarseth J, Myhr KM, Granum S, Spurkland A, Sawcer S, Compston A, Lie BA, Harbo HF (2010)
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

Munthe-Kaas MC, Torjussen TM, Gervin K, Lødrup Carlsen KC, Carlsen KH, Granum B, Hjorthaug HS, Undlien D, Lyle R (2010)
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

Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L (2010)
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

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W et al. (2010)
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

Bjørnvold M, Munthe-Kaas MC, Egeland T, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Carlsen KC, Carlsen KH, Undlien DE (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

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009)
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

Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T, European Federation of Neurological Sciences (2009)
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

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF, EFNS (2009)
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

Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A (2009)
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

Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, Zeviani M, Burgunder JM, Gasser T, EFNS (2009)
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

Koht J, Bjørnarå KA, Jørum E, Tallaksen CM (2009)
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

Lorentzen AR, Karlsen TH, Olsson M, Smestad C, Mero IL, Woldseth B, Sun JY, Senitzer D, Celius EG, Thorsby E, Spurkland A, Lie BA, Harbo HF (2009)
Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis
Ann Neurol, 65 (6), 658-66
DOI 10.1002/ana.21695, PubMed 19630074

Mero IL, Lorentzen AR, Ban M, Smestad C, Celius EG, Aarseth JH, Myhr KM, Link J, Hillert J, Olsson T, Kockum I, Masterman T, Oturai AB, Søndergaard HB, Sellebjerg F, Saarela J, Kemppinen A, Elovaara I, Spurkland A, Dudbridge F, Lie BA, Harbo HF (2009)
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

Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T (2009)
Genome-wide linkage analysis with clustered SNP markers
J Biomol Screen, 14 (1), 92-6
DOI 10.1177/1087057108327327, PubMed 19171925

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE (2009)
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

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE (2009)
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

Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E (2009)
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

Skinningsrud B, Husebye ES, Gilfillan GD, Frengen E, Erichsen A, Gervin K, Ormerod E, Egeland T, Undlien DE (2009)
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

Tallaksen CM, Berg JE (2009)
Miglustat therapy in juvenile Sandhoff disease
J Inherit Metab Dis, 32 Suppl 1, S289-93
DOI 10.1007/s10545-009-1224-7, PubMed 19898953

Vevelstad M, Pettersen S, Tallaksen C, Brørs O (2009)
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

Bjørnvold M, Undlien DE, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Rønningen KS, Stene LC (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

Erichsen AK, Server A, Landrø NI, Sandvik L, Tallaksen CM (2008)
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

Erichsen AK, Stevanin G, Denora P, Brice A, Tallaksen CM (2008)
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

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
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

Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE (2008)
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

Skinningsrud B, Husebye ES, Gervin K, Løvås K, Blomhoff A, Wolff AB, Kemp EH, Egeland T, Undlien DE (2008)
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

Tallaksen CM (2008)
[Hereditary ataxias]
Tidsskr Nor Laegeforen, 128 (17), 1977-80
PubMed 18787576

Publications 2007

Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM (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

Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, Stokke OH, Moser H, Skjeldal OH (2007)
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

Koht J, Tallaksen CM (2007)
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

Munthe-Kaas MC, Carlsen KH, Håland G, Devulapalli CS, Gervin K, Egeland T, Carlsen KL, Undlien D (2007)
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

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S et al. (2007)
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

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A (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

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555
Hum Genet, 118 (6), 782
PubMed 17297711

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516
Hum Genet, 118 (6), 785
PubMed 17297722

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519
Hum Genet, 118 (6), 776
PubMed 17297686

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552
Hum Genet, 118 (6), 781
PubMed 17297708

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553
Hum Genet, 118 (6), 782
PubMed 17297709

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554
Hum Genet, 118 (6), 782
PubMed 17297710

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556
Hum Genet, 118 (6), 782
PubMed 17297712

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557
Hum Genet, 118 (6), 783
PubMed 17297713

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (2006)
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515
Hum Genet, 118 (6), 785
PubMed 17297721

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A (2006)
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

Meraouna A, Cizeron-Clairac G, Panse RL, Bismuth J, Truffault F, Tallaksen C, Berrih-Aknin S (2006)
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

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B (2006)
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

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A (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

Dietrichs E, Tallaksen CM (2004)
[Genetics in movement disorders--dystonia, tremor and chorea]
Tidsskr Nor Laegeforen, 124 (17), 2236-7
PubMed 15356687

Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A (2004)
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

Tallaksen CM, Dietrichs E (2004)
[The genetics of movement disorders--spinocerebellar degenerations]
Tidsskr Nor Laegeforen, 124 (17), 2233-5
PubMed 15356686

Publications 2003

Tallaksen CM, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Durr A (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

Jacquemont ML, Campion D, Hahn V, Tallaksen C, Frebourg T, Brice A, Durr A (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

Tallaksen CM, Dürr A, Brice A (2001)
Recent advances in hereditary spastic paraplegia
Curr Opin Neurol, 14 (4), 457-63
DOI 10.1097/00019052-200108000-00005, PubMed 11470961

Publications 2000

Tallaksen CM, Taubøll E (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

Tallaksen CM, Taubøll E, Nome T (1999)
[Normal pressure hydrocephalus--evaluation of investigation procedures]
Tidsskr Nor Laegeforen, 119 (12), 1744-9
PubMed 10380589

Publications 1998

Tallaksen CM, Bovim G (1998)
[Thiamine treatment today]
Tidsskr Nor Laegeforen, 118 (25), 3946-9
PubMed 9830340

Publications 1997

Tallaksen CM, Bøhmer T, Karlsen J, Bell H (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

Tallaksen CM, Jetne V, Fosså S (1997)
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

Bell H, Tallaksen CM, Try K, Haug E (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

Bøhmer T, Utzon P, Tallaksen C (1994)
[Scurvy with simultaneous wet beriberi in 2 patients]
Tidsskr Nor Laegeforen, 114 (27), 3181-3
PubMed 7809869

Tallaksen CM, Bell H, Bøhmer T (1994)
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

Bell H, Tallaksen C, Sjåheim T, Weberg R, Raknerud N, Orjasaeter H, Try K, Haug E (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

Tallaksen CM, Bell H, Bøhmer T (1993)
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

Tallaksen CM, Sande A, Bøhmer T, Bell H, Karlsen J (1993)
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

Tallaksen CM, Bell H, Bøhmer T (1992)
The concentration of thiamin and thiamin phosphate esters in patients with alcoholic liver cirrhosis
Alcohol Alcohol, 27 (5), 523-30
PubMed 1476555

Tallaksen CM, Bøhmer T, Bell H (1992)
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

Tallaksen CM, Bøhmer T, Bell H (1992)
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

Tallaksen CM, Bøhmer T, Bell H, Karlsen J (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