Publications by Ola Hunsbeth Skjeldal
119 publications found
Original articles
[Inadequate quality assurance of the work of expert witnesses]
Tidsskr Nor Laegeforen, 140 (15)
DOI 10.4045/tidsskr.20.0547, PubMed 33118773
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485
Medical Issues in Adults with Rett Syndrome - A National Survey
Dev Neurorehabil, 23 (2), 106-112
DOI 10.1080/17518423.2019.1646341, PubMed 31342829
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BMC Med Genet, 19 (1), 184
DOI 10.1186/s12881-018-0700-z, PubMed 30305042
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Epilepsy Res, 145, 134-139
DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812
Serum Tryptophan, Tryptophan Catabolites and Brain-derived Neurotrophic Factor in Subgroups of Youngsters with Autism Spectrum Disorders
CNS Neurol Disord Drug Targets, 17 (8), 626-639
DOI 10.2174/1871527317666180720163221, PubMed 30033880
[Not Available]
Tidsskr Nor Laegeforen, 137 (14-15)
DOI 10.4045/tidsskr.17.0519, PubMed 28828824
Obstetric Outcomes of First- and Second-Generation Pakistani Immigrants: A Comparison Study at a Low-Risk Maternity Ward in Norway
J Immigr Minor Health, 19 (1), 33-40
DOI 10.1007/s10903-015-0329-3, PubMed 26706470
Kynurenine Pathway in Autism Spectrum Disorders in Children
Neuropsychobiology, 76 (2), 82-88
DOI 10.1159/000488157, PubMed 29694960
Cytokine Profile in Autism Spectrum Disorders in Children
J Mol Neurosci, 61 (1), 1-7
DOI 10.1007/s12031-016-0847-z, PubMed 27730473
Immigrants from conflict-zone countries: an observational comparison study of obstetric outcomes in a low-risk maternity ward in Norway
BMC Pregnancy Childbirth, 15, 163
DOI 10.1186/s12884-015-0603-3, PubMed 26243275
Higher risk for adverse obstetric outcomes among immigrants of African and Asian descent: a comparison study at a low-risk maternity hospital in Norway
Birth, 42 (2), 132-40
DOI 10.1111/birt.12165, PubMed 25847218
Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood
Eur J Paediatr Neurol, 19 (4), 411-4
DOI 10.1016/j.ejpn.2015.03.005, PubMed 25847750
Multiple sclerosis in children and adolescents. An important differential diagnosis of acute neurological disease
Eur J Paediatr Neurol, 19 (2), 211-7
DOI 10.1016/j.ejpn.2014.12.004, PubMed 25596063
The effect of interventions based on the programs of The Institutes for the Achievement of Human Potential and Family Hope Center
Dev Neurorehabil, 16 (4), 217-29
DOI 10.3109/17518423.2012.739211, PubMed 23834196
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
Automated spectral EEG analyses of premature infants during the first three days of life correlated with developmental outcomes at 24 months
Neonatology, 103 (3), 205-12
DOI 10.1159/000345923, PubMed 23327994
Children with autism spectrum disorders - the importance of medical investigations
Eur J Paediatr Neurol, 17 (1), 68-76
DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514
Parent-reported participation in children with cerebral palsy: the contribution of recurrent musculoskeletal pain and child mental health problems
Dev Med Child Neurol, 54 (9), 829-35
DOI 10.1111/j.1469-8749.2012.04341.x, PubMed 22779735
Health services utilization in adult acquired major upper-limb amputees: a population-based survey
J Rehabil Med, 44 (7), 593-600
DOI 10.2340/16501977-0985, PubMed 22674242
Neuromuscular disorders in children in South-Eastern Norway
J. Pediatr. Neurol., 10 (2), 95-100
DOI 10.3233/JPN-2012-0542
Observed prevalence of autism spectrum disorders in two Norwegian counties
Eur J Paediatr Neurol, 16 (6), 592-8
DOI 10.1016/j.ejpn.2012.01.014, PubMed 22342070
Prosthesis use in adult acquired major upper-limb amputees: patterns of wear, prosthetic skills and the actual use of prostheses in activities of daily life
Disabil Rehabil Assist Technol, 7 (6), 479-93
DOI 10.3109/17483107.2011.653296, PubMed 22315926
Mental health, health related quality of life and recurrent musculoskeletal pain in children with cerebral palsy 8-18 years old
Disabil Rehabil, 34 (19), 1589-95
DOI 10.3109/09638288.2012.656794, PubMed 22352294
Musculoskeletal pain and overuse syndromes in adult acquired major upper-limb amputees
Arch Phys Med Rehabil, 92 (12), 1967-1973.e1
DOI 10.1016/j.apmr.2011.06.026, PubMed 22133243
Prosthesis rejection in acquired major upper-limb amputees: a population-based survey
Disabil Rehabil Assist Technol, 7 (4), 294-303
DOI 10.3109/17483107.2011.635405, PubMed 22112174
Characteristics of recurrent musculoskeletal pain in children with cerebral palsy aged 8 to 18 years
Dev Med Child Neurol, 53 (11), 1013-8
DOI 10.1111/j.1469-8749.2011.04070.x, PubMed 22014321
Assessing physical function in adult acquired major upper-limb amputees by combining the Disabilities of the Arm, Shoulder and Hand (DASH) Outcome Questionnaire and clinical examination
Arch Phys Med Rehabil, 92 (10), 1636-45
DOI 10.1016/j.apmr.2011.04.019, PubMed 21872841
Spinal deformity and disability in patients with Rett syndrome
Dev Med Child Neurol, 53 (7), 653-7
DOI 10.1111/j.1469-8749.2011.03935.x, PubMed 21501153
Adult acquired major upper limb amputation in Norway: prevalence, demographic features and amputation specific features. A population-based survey
Disabil Rehabil, 33 (17-18), 1636-49
DOI 10.3109/09638288.2010.541973, PubMed 21174629
Mental health and satisfaction with life among upper limb amputees: a Norwegian population-based survey comparing adult acquired major upper limb amputees with a control group
Disabil Rehabil, 33 (17-18), 1594-607
DOI 10.3109/09638288.2010.540293, PubMed 21166612
Continuous intrathecal baclofen therapy in children with cerebral palsy - when does improvement emerge?
Acta Paediatr, 99 (11), 1661-5
DOI 10.1111/j.1651-2227.2009.01596.x, PubMed 19912148
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
Mol Genet Metab, 100 (3), 251-6
DOI 10.1016/j.ymgme.2010.03.015, PubMed 20382551
Therapy in a subtropical climate for children with cerebral palsy. Evidence of physical and psychosocial effects?
Acta Paediatr, 98 (4), 670-4
DOI 10.1111/j.1651-2227.2008.01114.x, PubMed 19006523
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
Sulphur anion metabolism in Rett syndrome patients: A pilot study
J. Pediatr. Neurol., 4 (4), 233-237
IgA antibodies in Rett syndrome
Autism, 10 (2), 189-97
DOI 10.1177/1362361306062024, PubMed 16613867
Large genomic rearrangements in MECP2
Hum Mutat, 25 (3), 324
DOI 10.1002/humu.9320, PubMed 15712379
[Treatment of patients with neuromuscular disease in a warm climate]
Tidsskr Nor Laegeforen, 124 (13-14), 1795-8
PubMed 15229669
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
Eur J Paediatr Neurol, 8 (3), 121-9
DOI 10.1016/j.ejpn.2003.12.007, PubMed 15120683
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
J Med Genet, 40 (5), 380-4
DOI 10.1136/jmg.40.5.380, PubMed 12746405
Urinary peptides in Rett syndrome
Autism, 6 (3), 315-28
DOI 10.1177/1362361302006003008, PubMed 12212921
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Ann Neurol, 52 (1), 38-46
DOI 10.1002/ana.10232, PubMed 12112045
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
Eur J Paediatr Neurol, 6 (5), 293-7
DOI 10.1053/ejpn.2002.0612, PubMed 12378695
Y chromosome haplogroups in autistic subjects
Mol Psychiatry, 7 (2), 217-9
DOI 10.1038/sj.mp.4000968, PubMed 11840316
[Ischemic stroke in children--a diagnostic challenge]
Tidsskr Nor Laegeforen, 121 (15), 1826-8
PubMed 11464690
Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease
J Child Neurol, 15 (7), 473-7
DOI 10.1177/088307380001500709, PubMed 10921519
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease
Hum Mol Genet, 9 (8), 1195-200
DOI 10.1093/hmg/9.8.1195, PubMed 10767344
[Guillain-Barre syndrome. Current treatment principles in the light of clinical aspects]
Tidsskr Nor Laegeforen, 119 (4), 506-9
PubMed 10081373
Autism and related disorders: epidemiological findings in a Norwegian study using ICD-10 diagnostic criteria
J Autism Dev Disord, 28 (3), 217-27
DOI 10.1023/a:1026017405150, PubMed 9656133
Childhood autism: the need for physical investigations
Brain Dev, 20 (4), 227-33
DOI 10.1016/s0387-7604(98)00031-x, PubMed 9661967
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA
J Inherit Metab Dis, 21 (3), 288-91
DOI 10.1023/a:1005388710197, PubMed 9686377
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
Nat Genet, 17 (2), 190-3
DOI 10.1038/ng1097-190, PubMed 9326940
Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
J Med Genet, 34 (10), 849-51
DOI 10.1136/jmg.34.10.849, PubMed 9350820
Rett syndrome: geographic variation in prevalence in Norway
Brain Dev, 19 (4), 258-61
DOI 10.1016/s0387-7604(97)00572-x, PubMed 9187475
Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity
Pediatr Neurol, 16 (2), 160-2
DOI 10.1016/s0887-8994(96)00318-9, PubMed 9090694
Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population
Acta Paediatr, 85 (10), 1197-201
DOI 10.1111/j.1651-2227.1996.tb18228.x, PubMed 8922083
Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation
Bone Marrow Transplant, 17 (6), 1003-8
PubMed 8807106
Vision, cognition and developmental characteristics of girls and women with Rett syndrome
Dev Med Child Neurol, 38 (3), 212-25
DOI 10.1111/j.1469-8749.1996.tb15083.x, PubMed 8631518
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
Am J Med Genet, 59 (1), 92-5
DOI 10.1002/ajmg.1320590118, PubMed 8849019
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?
Clin Genet, 48 (1), 1-5
DOI 10.1111/j.1399-0004.1995.tb04045.x, PubMed 7586637
Gangliosides in children with autism
Acta Paediatr, 84 (7), 787-90
DOI 10.1111/j.1651-2227.1995.tb13757.x, PubMed 7549298
[Neuronal migration disorders. Radiological and clinical aspects]
Tidsskr Nor Laegeforen, 115 (16), 1952-6
PubMed 7638849
Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant
Neuropediatrics, 26 (2), 87
DOI 10.1055/s-2007-979732, PubMed 7566462
[Rett syndrome--mostly an unsolved mystery]
Tidsskr Nor Laegeforen, 115 (5), 579-80
PubMed 7900106
[Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]
Tidsskr Nor Laegeforen, 114 (28), 3321-3
PubMed 7809891
[Conversion disorders in children and adolescents. A multidisciplinary approach]
Tidsskr Nor Laegeforen, 114 (12), 1405-8
PubMed 8079224
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
Mov Disord, 9 (1), 22-30
DOI 10.1002/mds.870090105, PubMed 8139602
A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60
Biochem Biophys Res Commun, 193 (1), 146-54
DOI 10.1006/bbrc.1993.1602, PubMed 8503901
[Glutaric aciduria type I]
Tidsskr Nor Laegeforen, 112 (8), 1020-2
PubMed 1553724
[Mental retardation in children. Prevalence and etiology]
Tidsskr Nor Laegeforen, 112 (6), 749-51
PubMed 1561594
[Mitochondrial diseases--more common than we realize?]
Tidsskr Nor Laegeforen, 111 (2), 177-9
PubMed 1998173
Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I
AJNR Am J Neuroradiol, 12 (3), 407-9
PubMed 2058483
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders
J Inherit Metab Dis, 14 (1), 45-8
DOI 10.1007/BF01804387, PubMed 1861458
Complementation analysis of peroxisomal disorders and classical Refsum
Prog Clin Biol Res, 321, 537-43
PubMed 1691507
[Psychological and neurologic long-term consequences of brain tumors in children. A pilot study]
Tidsskr Nor Laegeforen, 109 (33), 3406-8
PubMed 2609299
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
Hum Genet, 81 (2), 175-81
DOI 10.1007/BF00293897, PubMed 2463966
Neurological disorders and phytanic acid metabolism
Acta Neurol Scand, 78 (4), 324-8
DOI 10.1111/j.1600-0404.1988.tb03664.x, PubMed 3223227
Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination
J Neurol Sci, 85 (1), 39-53
DOI 10.1016/0022-510x(88)90034-2, PubMed 2455020
Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid
Scand J Clin Lab Invest, 48 (1), 97-102
DOI 10.3109/00365518809085400, PubMed 2464193
The subcellular localization of phytanic acid oxidase in rat liver
Biochim Biophys Acta, 921 (1), 38-42
DOI 10.1016/0005-2760(87)90167-6, PubMed 3620488
Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation
J Neurol Sci, 77 (1), 87-96
DOI 10.1016/0022-510x(87)90209-7, PubMed 2433405
Visual evoked response in syphilitic optic atrophy. A case report
Acta Ophthalmol (Copenh), 64 (5), 553-6
DOI 10.1111/j.1755-3768.1986.tb06972.x, PubMed 3492857
[Migraine and neurological disorders]
Tidsskr Nor Laegeforen, 106 (15), 1298-300
PubMed 3726844
Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations
Scand J Clin Lab Invest, 46 (3), 283-7
DOI 10.3109/00365518609083671, PubMed 2424078
[Cervical bruit and carotid artery stenosis]
Tidsskr Nor Laegeforen, 106 (4), 306-7
PubMed 3961746
[Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases]
Rev Neurol (Paris), 142 (5), 500-8
PubMed 2431446
[Positive Wassermann in the spinal fluid. Does it always mean neurosyphilis?]
Tidsskr Nor Laegeforen, 104 (23), 1523-5
PubMed 6484904
[Hemiballism]
Tidsskr Nor Laegeforen, 104 (19-21), 1313-4
PubMed 6740629
Juxtapapillary chorioretinitis in neurosyphilis. A case report
Acta Ophthalmol (Copenh), 62 (3), 351-8
DOI 10.1111/j.1755-3768.1984.tb08414.x, PubMed 6464683
[Transient global amnesia]
Tidsskr Nor Laegeforen, 100 (16), 1078-9
PubMed 7414590
Review articles
Role of the Immune System in Autism Spectrum Disorders (ASD)
CNS Neurol Disord Drug Targets, 17 (7), 489-495
DOI 10.2174/1871527317666180706123229, PubMed 29984670
Autism spectrum disorders--are they really epidemic?
Eur J Paediatr Neurol, 17 (4), 327-33
DOI 10.1016/j.ejpn.2013.03.003, PubMed 23602439
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Orphanet J Rare Dis, 6, 58
DOI 10.1186/1750-1172-6-58, PubMed 21878110
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (15), 2002-4
PubMed 16100537
Refsum disease, peroxisomes and phytanic acid oxidation: a review
J Neuropathol Exp Neurol, 60 (11), 1021-31
DOI 10.1093/jnen/60.11.1021, PubMed 11706932
Rett variants: a suggested model for inclusion criteria
Pediatr Neurol, 11 (1), 5-11
DOI 10.1016/0887-8994(94)90082-5, PubMed 7986294
[Peroxisomal disorders. A new group of metabolic diseases]
Tidsskr Nor Laegeforen, 110 (15), 1943-6
PubMed 2194321
Disorders related to the metabolism of phytanic acid
Scand J Clin Lab Invest Suppl, 184, 3-10
PubMed 2438746
Other articles
Long-term post-concussion symptoms
Tidsskr Nor Laegeforen, 142 (12)
DOI 10.4045/tidsskr.21.0713, PubMed 36066235
Lack of quality assurance of professional work
Tidsskr. Nor. Laegeforen., 140 (15), 1527-1528
When no cause can be found
Tidsskr Nor Laegeforen, 138 (13)
DOI 10.4045/tidsskr.18.0598, PubMed 30180483
Age-dependent penetrance among females with X-linked adrenoleukodystrophy
Brain, 138 (Pt 2), e325
DOI 10.1093/brain/awu232, PubMed 25149409
[Determination of disability compensation--a difficult matter]
Tidsskr Nor Laegeforen, 129 (13), 1354
DOI 10.4045/tidsskr.09.0557, PubMed 19561675
[Refsum disease--a rare cause of polyneuropathy]
Tidsskr Nor Laegeforen, 127 (15), 1960
PubMed 17700744
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (16), 2248
PubMed 16138162
[Habilitation of children with cerebral palsy]
Tidsskr Nor Laegeforen, 124 (9), 1227
PubMed 15131702
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
Am J Hum Genet, 72 (1), 218-9
DOI 10.1086/346030, PubMed 12549484
[Cerebral paresis]
Tidsskr Nor Laegeforen, 121 (13), 1565
PubMed 11446038
Epoxy acids in peroxisomal disorders
Scand J Clin Lab Invest, 46 (1), 95-6
DOI 10.3109/00365518609086487, PubMed 3952444
Books
Nevrologi og nevrokirurgi: fra barn til voksen : undersøkelse, diagnose, behandling
Vett & viten, Nesbru (4. rev. utg.), 631 s.
BIBSYS 061950084, ISBN 978-82-412-0628-3
Nevrologi og nevrokirurgi: fra barn til voksen : undersøkelse, diagnose, behandling
Vett & viten, Nesbru (3. rev. utg.), 671 s.
BIBSYS 022797211, ISBN 82-412-0556-2
Nevrologi: fra barn til voksen : undersøkelse, diagnose, behandling
Vett & viten, Nesbru (2. rev. utg.), 575 s.
BIBSYS 001097806, ISBN 82-412-0396-9
Nevrologi: fra barn til voksen : undersøkelse, diagnose, behandling
Vett & viten, Nesbru, 543 s.
BIBSYS 972235566, ISBN 82-412-0187-7
Neurologi
Vett & viten, Stabekk, 176 s.
BIBSYS 943055822, ISBN 82-412-0181-8
Nevrologi
Vett & viten, Sandvika, 158 s.
BIBSYS 890086761, ISBN 82-412-0009-9
Book chapters
Den Barnenevrologiske undersøkelsen
In Hjerne og atferd: utviklingsforstyrrelser hos barn og ungdom i et nevrobiologisk perspektiv -et skritt videre, Gyldendal Akademisk, Oslo, s. 153-170
BIBSYS 040869598
Theses
Phytanic acid storage diseases: a clinical and biochemical study
[O. H. Skjeldal], Oslo, 1 b. (flere pag.)
BIBSYS 894032488