Publications from OUS - Department of Clinical Neurosciences for Children
548 publications found
Publications 2024
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Intelligence and executive function are associated with age at insult, time post-insult, and disability following chronic pediatric acquired brain injury
Front Neurol, 14, 1192623
DOI 10.3389/fneur.2023.1192623, PubMed 38249741 -
Unmet health care needs over the first 2 years after pediatric traumatic brain injury
Eur J Paediatr Neurol, 49, 73-81 (in press)
DOI 10.1016/j.ejpn.2024.01.002, PubMed 38430714 -
Mental Health, Psychosocial Functioning, and Quality of Life in Adolescents With Hirschsprung Disease
J Pediatr Surg (in press)
DOI 10.1016/j.jpedsurg.2024.01.024, PubMed 38369401
Publications 2023
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Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern Norway
Eur J Paediatr Neurol, 45, 1-6
DOI 10.1016/j.ejpn.2023.05.004, PubMed 37209486 -
The role of cerebral palsy registries in improving patient care and collaboration: A global perspective
Dev Med Child Neurol (in press)
DOI 10.1111/dmcn.15814, PubMed 37986232 -
Implementation of the C-BiLLT, an accessible instrument to assess language comprehension in children with limited motor and speech function: an international clinician survey
Augment Altern Commun, 39 (3), 135-145
DOI 10.1080/07434618.2023.2197060, PubMed 37310116 -
Almost half of children and adolescents had unmet need 6 months after their traumatic brain injury
Acta Paediatr, 112 (5), 1019-1028
DOI 10.1111/apa.16693, PubMed 36708075 -
Autistic Characteristics in a Nationally Representative Clinical Sample of Adolescents Seeking Medical Gender-Affirming Treatment in Norway
J Autism Dev Disord (in press)
DOI 10.1007/s10803-023-06181-6, PubMed 38055182 -
Measuring impact of augmentative and alternative communication interventions: adapting the family impact of assistive technology scale for augmentative and alternative communication (FIATS-AAC-No) for use in Norway
Augment Altern Commun, 39 (3), 170-180
DOI 10.1080/07434618.2023.2170276, PubMed 37539681 -
Body Mass Index, Quality of Life and Activity Limitation Trajectories over 2 Years in Patients with Knee or Hip Osteoarthritis: A Dual Trajectory Approach Based on 4265 Patients Included in the AktivA Quality Register
J Clin Med, 12 (22)
DOI 10.3390/jcm12227094, PubMed 38002706 -
Norwegian paediatric habilitation centres judge their own competence on cerebral visual impairment as limited
Acta Paediatr, 112 (7), 1530-1536
DOI 10.1111/apa.16778, PubMed 36997302 -
Effect of Music Therapy on Parent-Infant Bonding Among Infants Born Preterm: A Randomized Clinical Trial
JAMA Netw Open, 6 (5), e2315750
DOI 10.1001/jamanetworkopen.2023.15750, PubMed 37234006 -
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (3), 107624
DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148 -
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (4), 107647
DOI 10.1016/j.ymgme.2023.107647, PubMed 37453860 -
Nurses' Experiences With Anal Dilatations in Babies With Anorectal Malformations - A Focus Group Interview Study
J Pediatr Surg, 58 (10), 1929-1934
DOI 10.1016/j.jpedsurg.2023.04.021, PubMed 37246043 -
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
J Biol Chem, 299 (11), 105295
DOI 10.1016/j.jbc.2023.105295, PubMed 37774976 -
Development of Hand Use with and Without Intensive Training Among Children with Unilateral Cerebral Palsy in Scandinavia
Dev Neurorehabil, 26 (3), 163-171
DOI 10.1080/17518423.2023.2193256, PubMed 36945898 -
Illness-Promoting Psychological Processes in Children and Adolescents with Functional Neurological Disorder
Children (Basel), 10 (11)
DOI 10.3390/children10111724, PubMed 38002815 -
Provision of augmentative and alternative communication interventions to Norwegian preschool children with cerebral palsy: are the right children receiving interventions?
Augment Altern Commun, 39 (4), 219-229
DOI 10.1080/07434618.2023.2212068, PubMed 37212772 -
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474 -
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 -
Functional Outcomes at 6 and 12 Months Post-Injury in a Trauma Centre Population with Moderate-to-Severe Traumatic Injuries
J Clin Med, 12 (16)
DOI 10.3390/jcm12165300, PubMed 37629342 -
Factors associated with discharge destination from acute care after moderate-to-severe traumatic injuries in Norway: a prospective population-based study
Inj Epidemiol, 10 (1), 20
DOI 10.1186/s40621-023-00431-y, PubMed 37055808 -
Chronic fatigue syndromes: real illnesses that people can recover from
Scand J Prim Health Care, 41 (4), 372-376
DOI 10.1080/02813432.2023.2235609, PubMed 37740918 -
[Not Available]
Tidsskr Nor Laegeforen, 143 (14)
DOI 10.4045/tidsskr.23.0346, PubMed 37830969 -
"I have to obey my pain" - children's experiences of pain burden in cerebral palsy
Disabil Rehabil, 46 (6), 1112-1120
DOI 10.1080/09638288.2023.2191012, PubMed 36987867 -
"Pain is one piece of a complex jigsaw puzzle" - experiences of raising a child with cerebral palsy who has pain
Disabil Rehabil, 1-9 (in press)
DOI 10.1080/09638288.2023.2290199, PubMed 38069685 -
Cognitive rehabilitation in paediatric acquired brain injury-A 2-year follow-up of a randomised controlled trial
Front Neurol, 14, 1173480
DOI 10.3389/fneur.2023.1173480, PubMed 37325227 -
Sustained low-grade inflammation in young participants with childhood onset type 1 diabetes: The Norwegian atherosclerosis and childhood diabetes (ACD) study
Atherosclerosis, 379, 117151
DOI 10.1016/j.atherosclerosis.2023.05.020, PubMed 37349194 -
How did youth with cerebral palsy perceive participation in everyday life after participating in a periodical intensive rehabilitation program based on adapted physical activity in groups? A qualitative interview study
Disabil Rehabil, 46 (1), 58-66
DOI 10.1080/09638288.2023.2180096, PubMed 36803505 -
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 -
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
Front Neurol, 14, 1098454
DOI 10.3389/fneur.2023.1098454, PubMed 36970548 -
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
J Inherit Metab Dis (in press)
DOI 10.1002/jimd.12658, PubMed 37452721
Publications 2022
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DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293 -
Assessment of Executive Function in Everyday Life-Psychometric Properties of the Norwegian Adaptation of the Children's Cooking Task
Front Hum Neurosci, 15, 761755
DOI 10.3389/fnhum.2021.761755, PubMed 35185492 -
[Moyamoya disease in children]
Tidsskr Nor Laegeforen, 142 (13)
DOI 10.4045/tidsskr.21.0776, PubMed 36164799 -
The biopsychosocial model in paediatric clinical practice-An interdisciplinary approach to somatic symptom disorders
Acta Paediatr, 111 (11), 2115-2124
DOI 10.1111/apa.16517, PubMed 36000514 -
Short-term Music Therapy for Families With Preterm Infants: A Randomized Trial
Pediatrics, 149 (2)
DOI 10.1542/peds.2021-052797, PubMed 34988583 -
Airway clearance physiotherapy and health-related quality of life in cystic fibrosis
PLoS One, 17 (10), e0276310
DOI 10.1371/journal.pone.0276310, PubMed 36256673 -
Neuropsychological Impairment, Brain Injury Symptoms, and Health-Related Quality of Life After Pediatric TBI in Oslo
Front Neurol, 12, 719915
DOI 10.3389/fneur.2021.719915, PubMed 35153967 -
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Neuromuscul Disord, 33 (2), 119-132
DOI 10.1016/j.nmd.2022.11.005, PubMed 36522254 -
The implementation of systematic monitoring of cognition in children with cerebral palsy in Sweden and Norway
Disabil Rehabil, 45 (15), 2497-2506
DOI 10.1080/09638288.2022.2094477, PubMed 35793099 -
Daytime contacts and general practitioner consultations, and pain as a reason for encounter in children with cerebral palsy; a Norwegian national registry linkage study
Scand J Prim Health Care, 40 (4), 474-480
DOI 10.1080/02813432.2022.2144992, PubMed 36633354 -
Health-related quality of life in adolescents with cerebral palsy; a cross-sectional and longitudinal population-based study
Child Care Health Dev, 49 (2), 373-381
DOI 10.1111/cch.13055, PubMed 36041889 -
Cognitive assessments among children with cerebral palsy in Sweden and the use of augmentative and alternative communication and interpreters: a cross-sectional registry study
Disabil Rehabil, 45 (22), 3656-3667
DOI 10.1080/09638288.2022.2138571, PubMed 36308310 -
Maternal Stress, Early Life Factors and Infant Salivary Cortisol Levels
Children (Basel), 9 (5)
DOI 10.3390/children9050623, PubMed 35626800 -
Rehabilitation for children with chronic acquired brain injury in the Child in Context Intervention (CICI) study: study protocol for a randomized controlled trial
Trials, 23 (1), 169
DOI 10.1186/s13063-022-06048-8, PubMed 35193666 -
Validity of the Behavioural Assessment of the Dysexecutive Syndrome for Children (BADS-C) in children and adolescents with pediatric acquired brain injury
Neuropsychol Rehabil, 33 (4), 551-573
DOI 10.1080/09602011.2022.2034649, PubMed 35188081 -
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genet Med, 25 (1), 90-102
DOI 10.1016/j.gim.2022.09.010, PubMed 36318270 -
Correction: Rehabilitation Needs, Service Provision, and Costs in the First Year Following Traumatic Injuries: Protocol for a Prospective Cohort Study
JMIR Res Protoc, 11 (3), e37723
DOI 10.2196/37723, PubMed 35320112 -
A novel investigation of eye-gaze as an access method for children with dyskinetic cerebral palsy
Dev Med Child Neurol, 64 (11), 1318-1319
DOI 10.1111/dmcn.15269, PubMed 35598090 -
Aided communication, mind understanding and co-construction of meaning
Dev Neurorehabil, 25 (8), 518-530
DOI 10.1080/17518423.2022.2099030, PubMed 35848118 -
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 -
Predictors of Functional School Outcome in Children With Pediatric Acquired Brain Injury
Front Neurol, 13, 872469
DOI 10.3389/fneur.2022.872469, PubMed 35493829 -
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841 -
Sex as a Moderator Between Parent Ratings of Executive Dysfunction and Social Difficulties in Children and Adolescents with Autism Spectrum Disorder
J Autism Dev Disord, 53 (10), 3847-3859
DOI 10.1007/s10803-022-05629-5, PubMed 35838825 -
A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development
Health Psychol Behav Med, 10 (1), 837-854
DOI 10.1080/21642850.2022.2116329, PubMed 36105256 -
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169
Publications 2021
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Correction to: Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study
J Neurol, 268 (1), 74-76
DOI 10.1007/s00415-020-10174-1, PubMed 32910254 -
Unmet Rehabilitation Needs after Traumatic Brain Injury across Europe: Results from the CENTER-TBI Study
J Clin Med, 10 (5)
DOI 10.3390/jcm10051035, PubMed 33802336 -
Pain burden in children with cerebral palsy (CPPain) survey: Study protocol
Paediatr Neonatal Pain, 4 (1), 12-22
DOI 10.1002/pne2.12049, PubMed 35546915 -
Participation in a rehabilitation program based on adapted physical activities in Norway: a qualitative study of experiences of immigrant parents and their children with disabilities
Disabil Rehabil, 44 (9), 1642-1649
DOI 10.1080/09638288.2021.1907454, PubMed 33826448 -
Evaluating Routine Blood Tests According to Clinical Symptoms and Diagnostic Criteria in Individuals with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
J Clin Med, 10 (14)
DOI 10.3390/jcm10143105, PubMed 34300271 -
Primary antibody deficiency: The impact on the quality of life and mental health of affected children and their parents
Acta Paediatr, 110 (5), 1645-1652
DOI 10.1111/apa.15752, PubMed 33420742 -
Music therapy in invasive cardiac procedures: Expanded perspective
BRIT. J. MUSIC THER., 13594575211039090
DOI 10.1177/13594575211039090 -
Rehabilitation of executive function in chronic paediatric brain injury: a randomized controlled trial
BMC Med, 19 (1), 253
DOI 10.1186/s12916-021-02129-8, PubMed 34724955 -
Risk Factors for Cerebral Palsy in Moldova
Medicina (Kaunas), 57 (6)
DOI 10.3390/medicina57060540, PubMed 34071238 -
Children with familial hypercholesterolemia display changes in LDL and HDL function: A cross-sectional study
J Intern Med, 290 (5), 1083-1097
DOI 10.1111/joim.13383, PubMed 34506681 -
Epidemiology of traumatic brain injury in children 15 years and younger in South-Eastern Norway in 2015-16. Implications for prevention and follow-up needs
Eur J Paediatr Neurol, 31, 70-77
DOI 10.1016/j.ejpn.2021.02.002, PubMed 33647532 -
Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression
J Autism Dev Disord, 52 (4), 1495-1506
DOI 10.1007/s10803-021-05023-7, PubMed 33934283 -
Disruptions of neurological services, its causes and mitigation strategies during COVID-19: a global review
J Neurol, 268 (11), 3947-3960
DOI 10.1007/s00415-021-10588-5, PubMed 34021772 -
Quality of life and emotional vulnerability in a national cohort of adolescents living with Fontan circulation
Cardiol Young, 32 (6), 874-882
DOI 10.1017/S1047951121003188, PubMed 34387177 -
Quality of life and emotional vulnerability in a national cohort of adolescents living with Fontan circulation - CORRIGENDUM
Cardiol Young, 32 (7), 1192
DOI 10.1017/S1047951121003802, PubMed 34486506 -
High satisfaction on genital self-perception and sexual function in healthy Norwegian male adolescents
J Pediatr Urol, 17 (4), 555.e1-555.e8
DOI 10.1016/j.jpurol.2021.02.015, PubMed 33750647 -
Clinical hypnosis - a revitalisation of the art of medicine
Tidsskr Nor Laegeforen, 141 (7)
DOI 10.4045/tidsskr.21.0098, PubMed 33950642 -
Treatment of spasticity in children and adolescents with cerebral palsy in Northern Europe: a CP-North registry study
BMC Neurol, 21 (1), 276
DOI 10.1186/s12883-021-02289-3, PubMed 34253183 -
Capture the magic: participation for all
Disabil Rehabil, 44 (9), 1556-1557
DOI 10.1080/09638288.2021.1994026, PubMed 34693841 -
Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe
ERJ Open Res, 7 (4)
DOI 10.1183/23120541.00411-2021, PubMed 34984210 -
Exploring participation in family and recreational activities among children with cerebral palsy during early childhood: how does it relate to motor function and parental empowerment?
Disabil Rehabil, 44 (9), 1560-1570
DOI 10.1080/09638288.2021.1894608, PubMed 33749471 -
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
J Inherit Metab Dis, 44 (6), 1489-1502
DOI 10.1002/jimd.12416, PubMed 34245036 -
Increased heart rate functions as a signal of acute distress in non-communicating persons with intellectual disability
Sci Rep, 11 (1), 6479
DOI 10.1038/s41598-021-86023-6, PubMed 33742078 -
Hand use development in children with unilateral cerebral palsy
Dev Med Child Neurol, 63 (12), 1462-1468
DOI 10.1111/dmcn.14957, PubMed 34152004 -
Changing the culture of care for children and adolescents with functional neurological disorder
Epilepsy Behav Rep, 16, 100486
DOI 10.1016/j.ebr.2021.100486, PubMed 34761194 -
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Nat Commun, 12 (1), 5529
DOI 10.1038/s41467-021-25515-5, PubMed 34545092 -
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
J Inherit Metab Dis, 44 (4), 1070-1082
DOI 10.1002/jimd.12360, PubMed 33443316 -
Hip pain in adolescents with cerebral palsy: a population-based longitudinal study
Dev Med Child Neurol, 63 (5), 601-607
DOI 10.1111/dmcn.14782, PubMed 33393085 -
Recurrent pain in adolescents with cerebral palsy: a longitudinal population-based study
Dev Med Child Neurol, 64 (3), 357-363
DOI 10.1111/dmcn.15040, PubMed 34448501 -
Priority setting at the clinical level: the case of nusinersen and the Norwegian national expert group
BMC Med Ethics, 22 (1), 54
DOI 10.1186/s12910-021-00623-5, PubMed 33947377 -
"Here we are together, at home you are alone" - social interactions and personal engagement during a group-based rehabilitation program for young adults with disability
Disabil Rehabil, 44 (9), 1631-1641
DOI 10.1080/09638288.2021.1921060, PubMed 34000938 -
How transactional relations contribute to adaptive developmental outcomes when young people with disabilities participate in specially designed group programs - a scoping review
Scand J Occup Ther, 29 (8), 670-685
DOI 10.1080/11038128.2021.1903989, PubMed 33820493 -
European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE): Expert Consensus on the Diagnosis, Service Provision, and Care of People with ME/CFS in Europe
Medicina (Kaunas), 57 (5)
DOI 10.3390/medicina57050510, PubMed 34069603 -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
J Clin Endocrinol Metab, 106 (2), e660-e674
DOI 10.1210/clinem/dgaa700, PubMed 33005949 -
Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group"
Acta Paediatr, 110 (12), 3390-3391
DOI 10.1111/apa.16149, PubMed 34644418 -
Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries
Acta Paediatr, 110 (12), 3153-3160
DOI 10.1111/apa.15875, PubMed 33848371 -
Factors related to educational adaptations and social life at school experienced by young people with CFS/ME: a qualitative study
BMJ Open, 11 (11), e051094
DOI 10.1136/bmjopen-2021-051094, PubMed 34794992 -
Postoperative changes in vertical ground reaction forces, walking barefoot and with ankle-foot orthoses in children with Cerebral Palsy
Clin Biomech (Bristol, Avon), 84, 105336
DOI 10.1016/j.clinbiomech.2021.105336, PubMed 33848706 -
Rehabilitation Needs, Service Provision, and Costs in the First Year Following Traumatic Injuries: Protocol for a Prospective Cohort Study
JMIR Res Protoc, 10 (4), e25980
DOI 10.2196/25980, PubMed 33688841 -
Systematic Monitoring of Cognition for Adults With Cerebral Palsy-The Rationale Behind the Development of the CPCog-Adult Follow-Up Protocol
Front Neurol, 12, 710440
DOI 10.3389/fneur.2021.710440, PubMed 34630285 -
Exploring two subdimensions of participation, involvement and engagement: A scoping review
Scand J Occup Ther, 29 (6), 441-463
DOI 10.1080/11038128.2021.1950207, PubMed 34242105 -
Angry puppet - a neurological syndrome in crime fiction
Tidsskr Nor Laegeforen, 141 (5)
DOI 10.4045/tidsskr.20.0729, PubMed 33754662 -
Self-administered biofeedback treatment app for pediatric migraine: A randomized pilot study
Brain Behav., 11 (2), e01974
DOI 10.1002/brb3.1974 -
Treatment Satisfaction With and Adherence to Disease-Modifying Antirheumatic Drugs in Adult Patients With Juvenile Idiopathic Arthritis
Arthritis Care Res (Hoboken), 73 (2), 221-231
DOI 10.1002/acr.24113, PubMed 31758669 -
Retinal venular oxygen saturation is associated with non-proliferative diabetic retinopathy in young patients with type 1 diabetes
Acta Ophthalmol, 100 (4), 388-394
DOI 10.1111/aos.15018, PubMed 34668632 -
Brain monitoring in hospitals needs to be strengthened
Tidsskr. Nor. Laegeforen., 141 (15), 1431-1433 -
Brain monitoring in hospitals needs to be strengthened
Tidsskr Nor Laegeforen, 141
DOI 10.4045/tidsskr.21.0412, PubMed 34726044
Publications 2020
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Living life with cerebral palsy? A description of the social safety nets for individuals with cerebral palsy in the Nordic countries
Scand J Public Health, 49 (6), 653-665
DOI 10.1177/1403494820974564, PubMed 33323047 -
Frequency of fatigue and its changes in the first 6 months after traumatic brain injury: results from the CENTER-TBI study
J Neurol, 268 (1), 61-73
DOI 10.1007/s00415-020-10022-2, PubMed 32676767 -
Disabled and immigrant, a double minority challenge: a qualitative study about the experiences of immigrant parents of children with disabilities navigating health and rehabilitation services in Norway
BMC Health Serv Res, 20 (1), 134
DOI 10.1186/s12913-020-5004-2, PubMed 32087730 -
Challenges and facilitators in supporting sustainable participation after rehabilitation: Experiences of immigrant parents and their children with disabilities
Scand J Occup Ther, 29 (8), 631-644
DOI 10.1080/11038128.2020.1856183, PubMed 33300814 -
Associations of age, body mass index and biochemical parameters with brain morphology in patients with anorexia nervosa
Eur Eat Disord Rev, 29 (1), 74-85
DOI 10.1002/erv.2803, PubMed 33125776 -
Nutritional Status in Adolescents with Esophageal Atresia
J Pediatr, 218, 130-137
DOI 10.1016/j.jpeds.2019.11.034, PubMed 31982089 -
Venular oxygen saturation is increased in young patients with type 1 diabetes and mild nonproliferative diabetic retinopathy
Acta Ophthalmol, 98 (8), 800-807
DOI 10.1111/aos.14462, PubMed 32410388 -
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181 -
Assessing language comprehension in motor impaired children needing AAC: validity and reliability of the Norwegian version of the receptive language test C-BiLLT
Augment Altern Commun, 36 (2), 95-106
DOI 10.1080/07434618.2020.1786857, PubMed 32706281 -
Change in popliteal angle and hamstrings spasticity during childhood in ambulant children with spastic bilateral cerebral palsy. A register-based cohort study
BMC Pediatr, 20 (1), 11
DOI 10.1186/s12887-019-1891-y, PubMed 31914961 -
Walking through life with cerebral palsy: reflections on daily walking by adults with cerebral palsy
Int J Qual Stud Health Well-being, 15 (1), 1746577
DOI 10.1080/17482631.2020.1746577, PubMed 32238123 -
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 -
Reaching adulthood with Hirschsprung's disease: Patient experiences and recommendations for transitional care
J Pediatr Surg, 56 (2), 257-262
DOI 10.1016/j.jpedsurg.2020.05.015, PubMed 32586610 -
Virus, allergic sensitisation and cortisol in infant bronchiolitis and risk of early asthma
ERJ Open Res, 6 (1)
DOI 10.1183/23120541.00268-2019, PubMed 32201686 -
A Mindfulness-Based Stress Reduction Program via Group Video Conferencing for Adults With Cerebral Palsy - A Pilot Study
Front Neurol, 11, 195
DOI 10.3389/fneur.2020.00195, PubMed 32318010 -
Lack of quality assurance of professional work
Tidsskr. Nor. Laegeforen., 140 (15), 1527-1528 -
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration
Mov Disord, 36 (6), 1342-1352
DOI 10.1002/mds.28392, PubMed 33200489 -
Lipoprotein retention in the vascular wall - a potential therapeutic target?
Tidsskr. Nor. Laegeforen., 140 (10), 987-989 -
Piloting the Use of a Short Observation List for ASD-Symptoms in Day-Care: Challenges and Further Possibilities
J Autism Dev Disord, 50 (9), 3413-3423
DOI 10.1007/s10803-019-04313-5, PubMed 31797183 -
The Outdoor Care Retreat
Tidsskr Nor Laegeforen, 140 (16)
DOI 10.4045/tidsskr.20.0409, PubMed 33172242 -
Patients' experiences and effects of non-pharmacological treatment for myalgic encephalomyelitis/chronic fatigue syndrome - a scoping mixed methods review
Int J Qual Stud Health Well-being, 15 (1), 1764830
DOI 10.1080/17482631.2020.1764830, PubMed 32432991 -
Traumatic stress, mental health, and quality of life in adolescents with esophageal atresia
J Pediatr Surg, 57 (7), 1423-1431
DOI 10.1016/j.jpedsurg.2020.10.029, PubMed 33223226 -
Effects of Pivotal Response Treatment (PRT) for Children with Autism Spectrum Disorders (ASD): a Systematic Review
Rev. J. Autism Dev. Disord., 7 (1), 78-90
DOI 10.1007/s40489-019-00180-z -
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
J Inherit Metab Dis, 43 (5), 1121-1130
DOI 10.1002/jimd.12247, PubMed 32369189 -
Understanding Pediatric Neuroimmune Disorder Conflicts: A Neuroradiologic Approach in the Molecular Era
Radiographics, 40 (5), 1395-1411
DOI 10.1148/rg.2020200032, PubMed 32735475 -
Health-related quality of life in Norwegian adolescents living with chronic fatigue syndrome
Health Qual Life Outcomes, 18 (1), 170
DOI 10.1186/s12955-020-01430-z, PubMed 32503553 -
Cognitive functioning in children with cerebral palsy
Dev Med Child Neurol, 62 (3), 283-289
DOI 10.1111/dmcn.14463, PubMed 32010976 -
Neuropsychological functioning in survivors of childhood medulloblastoma/CNS-PNET: The role of secondary medical complications
Clin Neuropsychol, 36 (3), 600-625
DOI 10.1080/13854046.2020.1794045, PubMed 32729777 -
Unmet rehabilitation needs in 86% of Norwegian paediatric embryonal brain tumour survivors
Acta Paediatr, 109 (9), 1875-1886
DOI 10.1111/apa.15188, PubMed 31977119 -
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
BMC Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069 -
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336 -
Key components of successful transition for adolescents born with anorectal malformations-a Nordic focus group study
Int J Adolesc Med Health, 34 (4), 211-218
DOI 10.1515/ijamh-2020-0052, PubMed 32887184
Publications 2019
-
CP-North: living life in the Nordic countries? A retrospective register research protocol on individuals with cerebral palsy and their parents living in Sweden, Norway, Denmark, Finland and Iceland
BMJ Open, 9 (10), e024438
DOI 10.1136/bmjopen-2018-024438, PubMed 31575533 -
The role of delayed bone age in the evaluation of stature and bone health in glucocorticoid treated patients with Duchenne muscular dystrophy
Int J Pediatr Endocrinol, 2019, 4
DOI 10.1186/s13633-019-0070-0, PubMed 31889957 -
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway
J Neuromuscul Dis, 6 (3), 349-359
DOI 10.3233/JND-190402, PubMed 31381525 -
Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan
Epilepsy Behav, 94, 59-64
DOI 10.1016/j.yebeh.2019.02.020, PubMed 30884409 -
Do Obese Children Achieve Maximal Heart Rate during Treadmill Running?
Sports (Basel), 7 (1)
DOI 10.3390/sports7010026, PubMed 30669424 -
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study
Dev Med Child Neurol, 62 (1), 57-61
DOI 10.1111/dmcn.14393, PubMed 31745987 -
CUGC for Stromme syndrome and CENPF-related disorders
Eur J Hum Genet, 28 (1), 132-136
DOI 10.1038/s41431-019-0498-y, PubMed 31488893 -
Effect of a Combined Stretching and Strength Training Program on Gait Function in Children with Cerebral Palsy, GMFCS Level I & II: A Randomized Controlled Trial
Medicina (Kaunas), 55 (6)
DOI 10.3390/medicina55060250, PubMed 31174397 -
Stretching and Progressive Resistance Exercise in Children With Cerebral Palsy: A Randomized Controlled Trial
Pediatr Phys Ther, 31 (3), 264-271
DOI 10.1097/PEP.0000000000000616, PubMed 31220010 -
Paediatric goal management training in patients with acquired brain injury: study protocol for a randomised controlled trial
BMJ Open, 9 (8), e029273
DOI 10.1136/bmjopen-2019-029273, PubMed 31375619 -
Empowerment in families raising a child with cerebral palsy during early childhood: Associations with child, family and service characteristics
Child Care Health Dev, 46 (1), 19-27
DOI 10.1111/cch.12716, PubMed 31503355 -
Twisted in Pain: The Multidisciplinary Treatment Approach to Functional Dystonia
Harv Rev Psychiatry, 27 (6), 359-381
DOI 10.1097/HRP.0000000000000237, PubMed 31714467 -
Neurocognitive Outcome and Compensating Possibilities in Children and Adolescents Treated for Acute Lymphoblastic Leukemia With Chemotherapy Only
Front Psychol, 10, 1027
DOI 10.3389/fpsyg.2019.01027, PubMed 31156497 -
The coolest I know - a qualitative study exploring the participation experiences of children with disabilities in an adapted physical activities program
Disabil Rehabil, 42 (17), 2501-2509
DOI 10.1080/09638288.2019.1573937, PubMed 31006287 -
Quality of life, salivary cortisol and atopic diseases in young children
PLoS One, 14 (8), e0214040
DOI 10.1371/journal.pone.0214040, PubMed 31469854 -
Comparison of gait with and without ankle-foot orthoses after lower limb surgery in children with unilateral cerebral palsy
J Child Orthop, 13 (2), 180-189
DOI 10.1302/1863-2548.13.180146, PubMed 30996743 -
Children's views on postsurgical pain in recovery units in Norway: A qualitative study
J Clin Nurs, 28 (11-12), 2157-2170
DOI 10.1111/jocn.14788, PubMed 30667569 -
Perceived facilitators and barriers for participation in leisure activities in children with disabilities: Perspectives of children, parents and professionals
Scand J Occup Ther, 28 (2), 121-135
DOI 10.1080/11038128.2019.1703037, PubMed 31852318 -
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291 -
Pain is associated with reduced quality of life and functional status in patients with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
Scand J Pain, 19 (1), 61-72
DOI 10.1515/sjpain-2018-0095, PubMed 30325738 -
Myalgic encephalomyelitis/chronic fatigue Syndrome (ME/CFS): Investigating care practices pointed out to disparities in diagnosis and treatment across European Union
PLoS One, 14 (12), e0225995
DOI 10.1371/journal.pone.0225995, PubMed 31805176 -
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414 -
Longitudinal Health Status from Early Disease to Adulthood and Associated Prognostic Factors in Juvenile Idiopathic Arthritis
J Rheumatol, 46 (10), 1335-1344
DOI 10.3899/jrheum.180948, PubMed 30877211 -
Examining the organization and quality of the psychiatric consultative service in Norway
Nord J Psychiatry, 73 (1), 9-15
DOI 10.1080/08039488.2018.1525426, PubMed 30661436 -
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
J Neuromuscul Dis, 6 (2), 241-258
DOI 10.3233/JND-180376, PubMed 31127727
Publications 2018
-
Assessment of aided language comprehension and use in children and adolescents with severe speech and motor impairments
Augment Altern Commun, 34 (1), 54-67
DOI 10.1080/07434618.2017.1420689, PubMed 29322822 -
Psychosocial care for hospitalized young survivors after the terror attack on Utøya Island: A qualitative study of the survivors' experiences
Injury, 50 (1), 197-204
DOI 10.1016/j.injury.2018.10.024, PubMed 30366828 -
Vocabulary comprehension and strategies in name construction among children using aided communication
Augment Altern Commun, 34 (1), 16-29
DOI 10.1080/07434618.2017.1420691, PubMed 29353508 -
Depression and functioning are important to subjective quality of life after a first episode psychosis
Compr Psychiatry, 86, 107-114
DOI 10.1016/j.comppsych.2018.07.014, PubMed 30114656 -
Cerebral palsy in Moldova: subtypes, severity and associated impairments
BMC Pediatr, 18 (1), 332
DOI 10.1186/s12887-018-1305-6, PubMed 30340478 -
A young boy with unexplained headache and paralysis
Tidsskr. Nor. Laegeforen., 138 (13), 1260-1262 -
A young boy with unexplained headache and paralysis
Tidsskr Nor Laegeforen, 138 (13)
DOI 10.4045/tidsskr.18.0081, PubMed 30180496 -
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627 -
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 -
Common promises for patients with neuromuscular diseases
Tidsskr. Nor. Laegeforen., 138 (15), 1408-1409 -
Development of bimanual performance in young children with cerebral palsy
Dev Med Child Neurol, 60 (5), 490-497
DOI 10.1111/dmcn.13680, PubMed 29392717 -
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653 -
Brief Report: Agreement Between Parents and Day-Care Professionals on Early Symptoms Associated with Autism Spectrum Disorders
J Autism Dev Disord, 48 (4), 1063-1068
DOI 10.1007/s10803-017-3355-2, PubMed 29086212 -
Identification of Symptoms of Autism Spectrum Disorders in the Second Year of Life at Day-Care Centres by Day-Care Staff: Step One in the Development of a Short Observation List
J Autism Dev Disord, 48 (7), 2267-2277
DOI 10.1007/s10803-018-3489-x, PubMed 29423606 -
Communicating the unknown: descriptions of pictured scenes and events presented on video by children and adolescents using aided communication and their peers using natural speech
Augment Altern Commun, 34 (1), 30-39
DOI 10.1080/07434618.2017.1420690, PubMed 29373919 -
The long-term effects of conductive education courses in young children with cerebral palsy: a randomized controlled trial
Dev Neurorehabil, 22 (2), 111-119
DOI 10.1080/17518423.2018.1460771, PubMed 29648488 -
Early efforts are important in behavioural difficulties in children Reply
Tidsskr. Nor. Laegeforen., 138 (1), 16 -
The challenges of describing rehabilitation services: A discussion paper
J Rehabil Med, 50 (2), 151-158
DOI 10.2340/16501977-2299, PubMed 29260837 -
Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care
Acta Paediatr, 108 (3), 535-540
DOI 10.1111/apa.14537, PubMed 30118557 -
Impact of ankle-foot orthoses on gait 1 year after lower limb surgery in children with bilateral cerebral palsy
Prosthet Orthot Int, 43 (1), 12-20
DOI 10.1177/0309364618791615, PubMed 30084755 -
Visual-spatial cognition in children using aided communication
Augment Altern Commun, 34 (1), 68-78
DOI 10.1080/07434618.2017.1422017, PubMed 29353517 -
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914 -
Small effort, high impact: Focus on physical activity improves oxygen uptake (VO2peak ), quality of life, and mental health after pediatric renal transplantation
Pediatr Transplant, 22 (6), e13242
DOI 10.1111/petr.13242, PubMed 29921004 -
Physical Functioning, Pain, and Health-Related Quality of Life in Adults With Juvenile Idiopathic Arthritis: A Longitudinal 30-Year Followup Study
Arthritis Care Res (Hoboken), 70 (5), 741-749
DOI 10.1002/acr.23327, PubMed 28732134 -
Communication aid provision and use among children and adolescents developing aided communication: an international survey
Augment Altern Commun, 34 (1), 79-91
DOI 10.1080/07434618.2017.1422019, PubMed 29355036 -
Enabling physical activity participation for children and youth with disabilities following a goal-directed, family-centred intervention
Res Dev Disabil, 77, 30-39
DOI 10.1016/j.ridd.2018.03.010, PubMed 29635224 -
A realist evaluation of a physical activity participation intervention for children and youth with disabilities: what works, for whom, in what circumstances, and how?
BMC Pediatr, 18 (1), 113
DOI 10.1186/s12887-018-1089-8, PubMed 29544462 -
Quality of life and physician-reported developmental, cognitive, and social problems in children with benign external hydrocephalus-long-term follow-up
Childs Nerv Syst, 35 (2), 245-250
DOI 10.1007/s00381-018-4016-2, PubMed 30523438 -
[Not Available]
Tidsskr Nor Laegeforen, 138 (14)
DOI 10.4045/tidsskr.18.0580, PubMed 30234257 -
[Not Available]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.17.1091, PubMed 29313605
Publications 2017
-
Muscle disorders with onset in childhood
Tidsskr. Nor. Laegeforen., 137 (2), 108-111 -
Having Fun and Staying Active! Children with Disabilities and Participation in Physical Activity: A Follow-Up Study
Phys Occup Ther Pediatr, 37 (4), 347-358
DOI 10.1080/01942638.2017.1281369, PubMed 28300457 -
Advanced glycation end products in children with type 1 diabetes and early reduced diastolic heart function
BMC Cardiovasc Disord, 17 (1), 133
DOI 10.1186/s12872-017-0551-0, PubMed 28545398 -
The WE-Study: does botulinum toxin A make walking easier in children with cerebral palsy?: Study protocol for a randomized controlled trial
Trials, 18 (1), 58
DOI 10.1186/s13063-016-1772-8, PubMed 28166806 -
Physical Injury and Somatic Complaints: The Mediating Role of Posttraumatic Stress Symptoms in Young Survivors of a Terror Attack
J Trauma Stress, 30 (3), 229-236
DOI 10.1002/jts.22191, PubMed 28556275 -
Long-term psychosocial consequences of surgical congenital malformations
Semin Pediatr Surg, 26 (5), 286-294
DOI 10.1053/j.sempedsurg.2017.09.009, PubMed 29110824 -
What do parents of children with autism expect from participation in research? A community survey about early autism studies
Autism, 23 (1), 175-186
DOI 10.1177/1362361317728436, PubMed 29126359 -
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647 -
Is going into stable symptomatic remission associated with a more positive development of life satisfaction? A 10-year follow-up study of first episode psychosis
Schizophr Res, 193, 364-369
DOI 10.1016/j.schres.2017.07.006, PubMed 28701275 -
Evaluation of a novel technique in airway clearance therapy - Specific Cough Technique (SCT) in cystic fibrosis: A pilot study of a series of N-of-1 randomised controlled trials
SAGE Open Med, 5, 2050312117697505
DOI 10.1177/2050312117697505, PubMed 28540046 -
[Children and adolescents with unexplained physical symptoms]
Tidsskr Nor Laegeforen, 137 (6), 433-434
DOI 10.4045/tidsskr.17.0134, PubMed 28332793 -
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 -
Hypnosis Training and Education: Experiences with a Norwegian One-Year Education Course in Clinical Hypnosis for Children and Adolescents
Am J Clin Hypn, 59 (3), 282-291
DOI 10.1080/00029157.2016.1230728, PubMed 27982780 -
School refusal behaviour: Are children and adolescents with autism spectrum disorder at a higher risk?
Res. Autism Spectr. Disord., 41-42, 31-38
DOI 10.1016/j.rasd.2017.07.001 -
Individual characteristics of students with autism spectrum disorders and school refusal behavior
Autism, 23 (2), 413-423
DOI 10.1177/1362361317748619, PubMed 29241346 -
Effects of a conductive education course in young children with cerebral palsy:A randomized controlled trial
Dev Neurorehabil, 21 (8), 481-489
DOI 10.1080/17518423.2017.1360961, PubMed 28816582 -
A boy with heart failure and behavioral disorders
Tidsskr. Nor. Laegeforen., 137 (20), 1611-1613 -
Psychometric evaluation of the Scandinavian version of the caregiver priorities and child health index of life with disabilities
Disabil Rehabil, 41 (2), 212-218
DOI 10.1080/09638288.2017.1378930, PubMed 28927310 -
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535 -
Juvenile myasthenia gravis in Norway: Clinical characteristics, treatment, and long-term outcome in a nationwide population-based cohort
Eur J Paediatr Neurol, 21 (5), 707-714
DOI 10.1016/j.ejpn.2017.04.003, PubMed 28457757 -
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Neuropediatrics, 48 (3), 166-184
DOI 10.1055/s-0037-1601449, PubMed 28561207 -
Morning Salivary Cortisol in Young Children: Reference Values and the Effects of Age, Sex, and Acute Bronchiolitis
J Pediatr, 184, 193-198.e3
DOI 10.1016/j.jpeds.2017.01.064, PubMed 28284475 -
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177, PubMed 28371307 -
Amplitude-Integrated Electroencephalography Improves the Identification of Infants with Encephalopathy for Therapeutic Hypothermia and Predicts Neurodevelopmental Outcomes at 2 Years of Age
J Pediatr, 187, 34-42
DOI 10.1016/j.jpeds.2017.04.041, PubMed 28549636 -
Experiences from a support group for families of preschool children in the expressive AAC user group
Augment Altern Commun, 33 (1), 3-13
DOI 10.1080/07434618.2016.1276960, PubMed 28121175 -
Neuropsychological profiles of children with cerebral palsy
Dev Neurorehabil, 21 (2), 108-120
DOI 10.1080/17518423.2017.1282054, PubMed 28632466 -
Executive Functioning in Children Aged 6-18 Years with Cerebral Palsy
J. Dev. Phys. Disabil., 29 (4), 663-681
DOI 10.1007/s10882-017-9549-x -
Human rights, climate change and global health at the Medical Association
Tidsskr. Nor. Laegeforen., 137 (6), 432
DOI 10.4045/tidsskr.17.0092 -
Goal-directed physical activities in group rehabilitation and impact on health-related quality of life and participation among young adults with physical disabilities - a qualitative study
Eur. J. Physiother., 19 (3), 131-136
DOI 10.1080/21679169.2017.1304573 -
[A boy with heart defects and behavioral problems]
Tidsskr Nor Laegeforen, 137 (20)
DOI 10.4045/tidsskr.17.0198, PubMed 29094549
Publications 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 -
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082 -
Attitudes of the autism community to early autism research
Autism, 21 (1), 61-74
DOI 10.1177/1362361315626577, PubMed 26975669 -
Subjective quality of life in first-episode psychosis. A ten year follow-up study
Schizophr Res, 172 (1-3), 23-8
DOI 10.1016/j.schres.2016.02.034, PubMed 26947210 -
A seven-month-old girl with sweaty feet
Tidsskr Nor Laegeforen, 136 (16), 1366-8
DOI 10.4045/tidsskr.15.1199, PubMed 27637057 -
On duty all the time: health and quality of life among immigrant parents caring for a child with complex health needs
J Clin Nurs, 25 (3-4), 362-71
DOI 10.1111/jocn.13056, PubMed 26818363 -
Preventing Poor Vocational Functioning in Psychosis Through Early Intervention
Psychiatr Serv, 68 (1), 100-103
DOI 10.1176/appi.ps.201500451, PubMed 27582238 -
[What causes febrile convulsions?]
Tidsskr Nor Laegeforen, 136 (1), 36-8
DOI 10.4045/tidsskr.14.1503, PubMed 26757658 -
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway
Eur J Neurol, 23 Suppl 1, 36-44
DOI 10.1111/ene.12884, PubMed 26563096 -
Pain hurts 2: changes over time in children and young people with cerebral palsy
Dev Med Child Neurol, 59 (4), 345-346
DOI 10.1111/dmcn.13365, PubMed 27981575 -
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704 -
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years
J Cyst Fibros, 15 (3), 318-24
DOI 10.1016/j.jcf.2015.12.017, PubMed 26795017 -
Neurocognitive and psychosocial function in children with benign external hydrocephalus (BEH)-a long-term follow-up study
Childs Nerv Syst, 33 (1), 91-99
DOI 10.1007/s00381-016-3267-z, PubMed 27848005 -
Fitness, Fun and Friends through Participation in Preferred Physical Activities: Achievable for Children with Disabilities?
Int. J. Disabil. Dev. Educ., 63 (3), 334-356
DOI 10.1080/1034912X.2015.1122176 -
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922 -
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364 -
Juvenile myasthenia gravis in Norway: A nationwide epidemiological study
Eur J Paediatr Neurol, 21 (2), 312-317
DOI 10.1016/j.ejpn.2016.09.001, PubMed 27666466 -
Associations between recurrent musculoskeletal pain and visits to the family doctor (GP) and specialist multi-professional team in 74 Norwegian youth with cerebral palsy
Child Care Health Dev, 42 (5), 735-41
DOI 10.1111/cch.12366, PubMed 27283955 -
Hip pain is more frequent in severe hip displacement: a population-based study of 77 children with cerebral palsy
J Pediatr Orthop B, 25 (3), 217-21
DOI 10.1097/BPB.0000000000000282, PubMed 26895291 -
The severity of acute bronchiolitis in infants was associated with quality of life nine months later
Acta Paediatr, 105 (7), 834-41
DOI 10.1111/apa.13396, PubMed 26970427 -
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860 -
Structure of Executive Functioning in Children with Cerebral Palsy: an Investigation of Anderson's Developmental Model
J. Dev. Phys. Disabil., 28 (5), 665-684
DOI 10.1007/s10882-016-9500-6 -
Comparing the DePaul Symptom Questionnaire with physician assessments: a preliminary study
FATIGUE, 4 (1), 52-62
DOI 10.1080/21641846.2015.1126026
Publications 2015
-
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973 -
Physical injury and posttraumatic stress reactions. A study of the survivors of the 2011 shooting massacre on Utøya Island, Norway
J Psychosom Res, 79 (5), 384-90
DOI 10.1016/j.jpsychores.2015.09.005, PubMed 26526313 -
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
J Inherit Metab Dis, 39 (2), 243-52
DOI 10.1007/s10545-015-9894-9, PubMed 26475597 -
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Am. J. Med. Genet. A, 167 (2), 296-312
DOI 10.1002/ajmg.a.36887 -
Resilience factors play an important role in the mental health of parents when children survive acute lymphoblastic leukaemia
Acta Paediatr, 105 (1), e30-4
DOI 10.1111/apa.13232, PubMed 26426347 -
Cognitive behavioral therapy for adolescents with 22q11.2 deletion syndrome
Adv. Ment. Health Intellet. Disabil., 9 (1), 30-39
DOI 10.1108/AMHID-05-2014-0017 -
Early Predictors of Ten-Year Course in First-Episode Psychosis
Psychiatr Serv, 67 (4), 438-43
DOI 10.1176/appi.ps.201400558, PubMed 26567932 -
The advanced glycation end product methylglyoxal-derived hydroimidazolone-1 and early signs of atherosclerosis in childhood diabetes
Diab Vasc Dis Res, 12 (2), 139-45
DOI 10.1177/1479164114560910, PubMed 25616705 -
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420 -
Adolescents with cerebral palsy and their contact with the GP and the habilitative services
Tidsskr. Nor. Laegeforen., 135 (5), 428-432 -
[Adolescents with cerebral palsy and their contact with the GP and the habilitative services]
Tidsskr Nor Laegeforen, 135 (5), 429-33
DOI 10.4045/tidsskr.14.0434, PubMed 25761027 -
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Elife, 4, e06602
DOI 10.7554/eLife.06602, PubMed 26026149 -
Effective connectivity in long-term EEG monitoring in preterm infants
Clin Neurophysiol, 126 (12), 2261-8
DOI 10.1016/j.clinph.2015.01.017, PubMed 25735477 -
Gait improvement surgery in ambulatory children with diplegic cerebral palsy A 5-year follow-up study of 34 children
Acta Orthop., 86 (4), 511-517
DOI 10.3109/17453674.2015.1011927 -
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Brain, 139 (Pt 3), 674-91
DOI 10.1093/brain/awv352, PubMed 26700687 -
A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia
J Neuromuscul Dis, 2 (2), 181-184
DOI 10.3233/JND-150069, PubMed 27858731
Publications 2014
-
Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia
Eur J Paediatr Neurol, 19 (1), 29-36
DOI 10.1016/j.ejpn.2014.09.005, PubMed 25457511 -
Pain and rehabilitation problems after single-event multilevel surgery including bony foot surgery in cerebral palsy A series of 7 children
Acta Orthop., 85 (6), 646-651
DOI 10.3109/17453674.2014.960141 -
Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health
Acta Paediatr, 103 (8), 886-91
DOI 10.1111/apa.12657, PubMed 24724871 -
Mental health in women experiencing preterm birth
BMC Pregnancy Childbirth, 14, 263
DOI 10.1186/1471-2393-14-263, PubMed 25107462 -
Family-centred practices in the provision of interventions and services in primary health care: A survey of parents of preschool children with cerebral palsy
J Child Health Care, 20 (1), 109-19
DOI 10.1177/1367493514551312, PubMed 25336236 -
Self-reported mental health in youth with cerebral palsy and associations to recurrent musculoskeletal pain
Disabil Rehabil, 37 (2), 144-50
DOI 10.3109/09638288.2014.913703, PubMed 24786760 -
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I
Acta Paediatr, 103 (5), 553-8
DOI 10.1111/apa.12561, PubMed 24447024 -
Children hospitalised with bronchiolitis in the first year of life have a lower quality of life nine months later
Acta Paediatr, 104 (1), 53-8
DOI 10.1111/apa.12792, PubMed 25169812 -
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 -
Investigating executive functions in children with severe speech and movement disorders using structured tasks
Front Psychol, 5, 992
DOI 10.3389/fpsyg.2014.00992, PubMed 25249999 -
Intensive training of motor function and functional skills among young children with cerebral palsy: a systematic review and meta-analysis
BMC Pediatr, 14, 292
DOI 10.1186/s12887-014-0292-5, PubMed 25475608 -
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
Hum Mol Genet, 23 (23), 6356-65
DOI 10.1093/hmg/ddu357, PubMed 25008109 -
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Neurology, 83 (21), 1898-905
DOI 10.1212/WNL.0000000000001002, PubMed 25339210
Publications 2013
-
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540 -
Post-traumatic stress reactions in survivors of the 2011 massacre on Utøya Island, Norway
Br J Psychiatry, 204, 361-7
DOI 10.1192/bjp.bp.113.133157, PubMed 24115344 -
Physical activity and motor function in children and adolescents with neuromuscular disorders
Pediatr Phys Ther, 25 (4), 415-20
DOI 10.1097/PEP.0b013e3182a635f0, PubMed 23995671 -
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 -
Long-term risk of mental health problems in women experiencing preterm birth: a longitudinal study of 29 mothers
Ann Gen Psychiatry, 12 (1), 33
DOI 10.1186/1744-859X-12-33, PubMed 24176131 -
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Hum Genet, 133 (5), 625-38
DOI 10.1007/s00439-013-1403-3, PubMed 24326587 -
Walking deterioration and gait analysis in adults with spastic bilateral cerebral palsy
Gait Posture, 37 (2), 165-171
DOI 10.1016/j.gaitpost.2012.06.032 -
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Lancet Neurol., 12 (12), 1159-1169
DOI 10.1016/S1474-4422(13)70258-8 -
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 -
Relationship between autonomic cardiovascular control, case definition, clinical symptoms, and functional disability in adolescent chronic fatigue syndrome: an exploratory study
Biopsychosoc Med, 7 (1), 5
DOI 10.1186/1751-0759-7-5, PubMed 23388153
Publications 2012
-
Dexamethasone reduces bilirubin-induced toxicity and IL-8 and MCP-1 release in human NT2-N neurons
Brain Res, 1458, 12-7
DOI 10.1016/j.brainres.2012.04.007, PubMed 22546346 -
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108 -
Body weight supported treadmill training versus traditional training in patients dependent on walking assistance after stroke: a randomized controlled trial
Disabil Rehabil, 34 (3), 210-9
DOI 10.3109/09638288.2011.593681, PubMed 21954995 -
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 -
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 -
Correction: "Reduction in BMI z-score and improvement in cardiometabolic risk factors in obese children and adolescents. The Oslo adiposity intervention study - a hospital/public health nurse combined treatment."
BMC Pediatr, 12, 77
DOI 10.1186/1471-2431-12-77, PubMed 22709339 -
Face and construct validity of the Gait Deviation Index in adults with spastic cerebral palsy
J Rehabil Med, 44 (3), 272-5
DOI 10.2340/16501977-0930, PubMed 22214985 -
Reliability of the Norwegian version of the Children's Assessment of Participation and Enjoyment (CAPE) and Preferences for Activities of Children (PAC)
Phys Occup Ther Pediatr, 33 (2), 199-212
DOI 10.3109/01942638.2012.739269, PubMed 23157665 -
Balance in Relation to Walking Deterioration in Adults With Spastic Bilateral Cerebral Palsy
Phys. Ther., 92 (2), 279-288
DOI 10.2522/ptj.20100432 -
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 -
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 -
Neuromuscular disorders in children in South-Eastern Norway
J. Pediatr. Neurol., 10 (2), 95-100
DOI 10.3233/JPN-2012-0542 -
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Nat Genet, 44 (11), 1243-8
DOI 10.1038/ng.2414, PubMed 23001123 -
Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
J Med Case Rep, 6, 383
DOI 10.1186/1752-1947-6-383, PubMed 23146215 -
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853 -
Adolescent chronic fatigue syndrome; a follow-up study displays concurrent improvement of circulatory abnormalities and clinical symptoms
Biopsychosoc Med, 6, 10
DOI 10.1186/1751-0759-6-10, PubMed 22436201 -
An international comparison of patterns of participation in leisure activities for children with and without disabilities in Sweden, Norway and the Netherlands
Dev. Neurorehabil., 15 (5), 369-385
DOI 10.3109/17518423.2012.694915
Publications 2011
-
Paracetamol exposure during breastfeeding and risk of allergic disease
Acta Paediatr., 100 (7), e3
DOI 10.1111/j.1651-2227.2011.02340.x -
Altered oxidative state in schoolchildren with asthma and allergic rhinitis
Pediatr Allergy Immunol, 22 (2), 178-85
DOI 10.1111/j.1399-3038.2010.01092.x, PubMed 20633237 -
Paracetamol in early infancy: the risk of childhood allergy and asthma
Acta Paediatr, 100 (1), 90-6
DOI 10.1111/j.1651-2227.2010.01942.x, PubMed 21143295 -
Kidney transplantation in childhood: mental health and quality of life of children and caregivers
Pediatr Nephrol, 26 (10), 1881-92
DOI 10.1007/s00467-011-1887-9, PubMed 21520007 -
Ambulant adults with spastic cerebral palsy: the validity of lower limb joint angle measurements from sagittal video recordings
Gait Posture, 35 (2), 186-91
DOI 10.1016/j.gaitpost.2011.09.004, PubMed 21978791 -
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662 -
Effects of botulinum toxin A in ambulant adults with spastic cerebral palsy: a randomized double-blind placebo controlled-trial
J Rehabil Med, 43 (4), 338-47
DOI 10.2340/16501977-0672, PubMed 21305227 -
Physical and mental components of health-related quality of life and musculoskeletal pain sites over seven years in adults with spastic cerebral palsy
J Rehabil Med, 43 (5), 382-7
DOI 10.2340/16501977-0787, PubMed 21369676 -
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 -
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 -
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 -
"Knee function and prevalence of knee osteoarthritis after anterior cruciate ligament reconstruction: a prospective study with 10 to 15 years of follow-up". Letter to the editor
Am J Sports Med, 39 (4), NP3; author reply NP3-4
DOI 10.1177/0363546511403704, PubMed 21460071 -
Feasibility of long-term continuous EEG monitoring during the first days of life in preterm infants: an automated quantification of the EEG activity
Pediatr Res, 69 (5 Pt 1), 413-7
DOI 10.1203/PDR.0b013e31821267d2, PubMed 21283050 -
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
Publications 2010
-
Maternal IgG Anti-A and Anti-B Titres Predict Outcome in ABO-Incompatibility in the Neonate EDITORIAL COMMENT
Obstet. Gynecol. Surv., 65 (3), 160-162
DOI 10.1097/01.ogx.0000369672.26710.64 -
Reduced basal salivary cortisol in children with asthma and allergic rhinitis
Acta Paediatr, 99 (11), 1705-11
DOI 10.1111/j.1651-2227.2009.01598.x, PubMed 19912147 -
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277 -
Effects of posture on lung function in obese children
Clin Respir J, 5 (4), 252-7
DOI 10.1111/j.1752-699X.2010.00227.x, PubMed 21801326 -
Ambulant children with spastic cerebral palsy and their parents' perceptions and expectations prior to multilevel surgery
Dev Neurorehabil, 13 (2), 80-7
DOI 10.3109/17518420903373511, PubMed 20222768 -
Rehabilitation after multilevel surgery in ambulant spastic children with cerebral palsy: children and parent experiences
Dev Neurorehabil, 13 (3), 182-91
DOI 10.3109/17518421003606151, PubMed 20450468 -
Chronic fatigue could be a marker of ADHD in children and adolescents
Acta Paediatr., 99 (1), 5-6
DOI 10.1111/j.1651-2227.2009.01622.x -
Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
Clin Genet, 79 (1), 35-43
DOI 10.1111/j.1399-0004.2010.01534.x, PubMed 21143468 -
[Children with neurodegenerative disease]
Tidsskr Nor Laegeforen, 130 (15), 1489-92
DOI 10.4045/tidsskr.10.0020, PubMed 20706313 -
European consensus statement on diagnosis and treatment of adult ADHD: The European Network Adult ADHD
BMC Psychiatry, 10, 67
DOI 10.1186/1471-244X-10-67 -
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Brain, 133, 655-670
DOI 10.1093/brain/awp336 -
Walking ability and predictors of performance on the 6-minute walk test in adults with spastic cerebral palsy
Dev Med Child Neurol, 52 (6), e126-32
DOI 10.1111/j.1469-8749.2010.03614.x, PubMed 20163429 -
Self-rated physical and psychosocial health in a cohort of young adults with juvenile idiopathic arthritis
Scand J Rheumatol, 39 (4), 318-25
DOI 10.3109/03009740903505213, PubMed 20476866 -
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 -
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
Neuromuscul Disord, 21 (1), 41-6
DOI 10.1016/j.nmd.2010.08.008, PubMed 20961759 -
Intensive motor skills training program combining group and individual sessions for children with cerebral palsy
Pediatr Phys Ther, 22 (2), 150-9
DOI 10.1097/PEP.0b013e3181dbe379, PubMed 20473097 -
[Sex reassignment surgery in transsexuals]
Tidsskr Nor Laegeforen, 130 (4), 376-9
DOI 10.4045/tidsskr.08.0670, PubMed 20220861
Publications 2009
-
Maternal IgG anti-A and anti-B titres predict outcome in ABO-incompatibility in the neonate
Acta Paediatr, 98 (12), 1896-901
DOI 10.1111/j.1651-2227.2009.01478.x, PubMed 19703120 -
Mental health and psychosocial functioning in adolescents with esophageal atresia
J Pediatr Surg, 44 (4), 729-37
DOI 10.1016/j.jpedsurg.2008.09.027, PubMed 19361632 -
Mental health in infants with esophageal atresia
Infant Ment Health J, 30 (1), 40-56
DOI 10.1002/imhj.20202, PubMed 28636118 -
Children and adolescents with congenital heart disease: assessment of behavioural and emotional problems
Eur Child Adolesc Psychiatry, 18 (5), 292-300
DOI 10.1007/s00787-008-0730-8, PubMed 19156353 -
Chronic fatigue in adolescence--autonomic dysregulation and mental health: an exploratory study
Acta Paediatr, 98 (8), 1313-8
DOI 10.1111/j.1651-2227.2009.01323.x, PubMed 19432823 -
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
Neuromusc. Disord., 19 (2), 147-150
DOI 10.1016/j.nmd.2008.11.014 -
Elevated visfatin levels in overweight and obese children and adolescents with metabolic syndrome
Scand J Clin Lab Invest, 69 (8), 858-64
DOI 10.3109/00365510903348677, PubMed 19929281 -
Can persistent drop foot after calf muscle lengthening be predicted preoperatively?
J Foot Ankle Surg, 48 (6), 631-6
DOI 10.1053/j.jfas.2009.07.001, PubMed 19857817 -
No effect on gait function of progressive resistance exercise in adults with cerebral palsy - A single-blind randomized controlled trial
Eur. J. Physiother., 11 (4), 227-233
DOI 10.3109/14038190902912423 -
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976 -
Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
Am J Med Genet A, 149A (12), 2877-81
DOI 10.1002/ajmg.a.33106, PubMed 19938092 -
A longitudinal follow-up study of physical and psychosocial health in young adults with chronic childhood arthritis
Clin Exp Rheumatol, 27 (6), 1039-46
PubMed 20149328 -
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379 -
Children in remission from acute lymphoblastic leukaemia: mental health, psychosocial adjustment and parental functioning
Eur J Cancer Care (Engl), 18 (4), 364-70
DOI 10.1111/j.1365-2354.2008.00954.x, PubMed 19473372 -
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Nat Genet, 41 (7), 829-32
DOI 10.1038/ng.373, PubMed 19525956 -
Adult outcomes and lifespan issues for people with childhood-onset physical disability
Dev. Med. Child Neurol., 51 (8), 670-678
DOI 10.1111/j.1469-8749.2009.03322.x -
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
Exp Cell Res, 315 (17), 3014-27
DOI 10.1016/j.yexcr.2009.07.012, PubMed 19619532 -
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway
Eur J Paediatr Neurol, 14 (2), 138-45
DOI 10.1016/j.ejpn.2009.03.007, PubMed 19446480 -
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
J Med Genet, 47 (8), 575-7
DOI 10.1136/jmg.2009.072710, PubMed 19858127 -
Expanding CEP290 mutational spectrum in ciliopathies
Am J Med Genet A, 149A (10), 2173-80
DOI 10.1002/ajmg.a.33025, PubMed 19764032 -
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway
Exp Clin Endocrinol Diabetes, 117 (6), 266-73
DOI 10.1055/s-0028-1102942, PubMed 19301229
Publications 2008
-
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue
Med Sci Monit, 14 (8), CS71-5
PubMed 18668002 -
[Children born with ambiguous genitalia]
Tidsskr Nor Laegeforen, 128 (5), 576-80
PubMed 18311202 -
Does esophageal atresia influence the mother-infant interaction?
J Pediatr Surg, 43 (10), 1796-801
DOI 10.1016/j.jpedsurg.2008.04.011, PubMed 18926210 -
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 -
A normative sample of isotonic and isokinetic muscle strength measurements in children 7 to 12 years of age
Acta Paediatr, 97 (5), 602-7
DOI 10.1111/j.1651-2227.2008.00709.x, PubMed 18355391 -
Hypnotherapy in child psychiatry: the state of the art
Clin Child Psychol Psychiatry, 13 (3), 377-93
DOI 10.1177/1359104508090601, PubMed 18783121 -
Ethnic differences in metabolic syndrome among overweight and obese children and adolescents: the Oslo Adiposity Intervention Study
Acta Paediatr, 97 (11), 1557-63
DOI 10.1111/j.1651-2227.2008.00955.x, PubMed 18657125 -
Cognitive outcome in children and adolescents treated for acute lymphoblastic leukaemia with chemotherapy only
Acta Paediatr, 98 (1), 180-6
DOI 10.1111/j.1651-2227.2008.01055.x, PubMed 18826490 -
Results of treatment when orthopaedic surgeons follow gait-analysis recommendations in children with CP
Dev Med Child Neurol, 50 (7), 503-9
DOI 10.1111/j.1469-8749.2008.03018.x, PubMed 18611199 -
Answer to HK Graham
J Child Orthop, 2 (4), 323
DOI 10.1007/s11832-008-0117-x, PubMed 19308562 -
Local and distant effects of isolated calf muscle lengthening in children with cerebral palsy and equinus gait
J Child Orthop, 2 (1), 55-61
DOI 10.1007/s11832-007-0074-9, PubMed 19308603 -
Walking function, pain, and fatigue in adults with cerebral palsy: a 7-year follow-up study
Dev Med Child Neurol, 51 (5), 381-8
DOI 10.1111/j.1469-8749.2008.03250.x, PubMed 19207296 -
The Pediatric Quality of Life Inventory (PedsQL) 4.0 as an assessment measure for depressive symptoms: a correlational study with young adolescents
Nord J Psychiatry, 62 (4), 279-86
DOI 10.1080/08039480801983950, PubMed 18645737 -
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 -
[Mental retardation]
Tidsskr Nor Laegeforen, 128 (7), 841; author reply 841
PubMed 18389036
Publications 2007
-
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
Am J Hum Genet, 81 (1), 104-13
DOI 10.1086/519026, PubMed 17564967 -
[Tuberous sclerosis]
Tidsskr Nor Laegeforen, 127 (7), 853
PubMed 17435801 -
Growth and development of children of mothers with leprosy and healthy controls
Ethiop Med J, 45 Suppl 1, 9-23
PubMed 18710070 -
Impaired motor competence in school-aged children with complex congenital heart disease
Arch Pediatr Adolesc Med, 161 (10), 945-50
DOI 10.1001/archpedi.161.10.945, PubMed 17909137 -
[Refsum disease--a rare cause of polyneuropathy]
Tidsskr Nor Laegeforen, 127 (15), 1960
PubMed 17700744 -
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 -
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
J Med Case Rep, 1, 98
DOI 10.1186/1752-1947-1-98, PubMed 17883863 -
Preoperative gait analysis has a substantial effect on orthopedic decision making in children with cerebral palsy: comparison between clinical evaluation and gait analysis in 60 patients
Acta Orthop, 78 (1), 74-80
DOI 10.1080/17453670610013448, PubMed 17453395 -
Health-related quality of life and intellectual functioning in children in remission from acute lymphoblastic leukaemia
Acta Paediatr, 96 (9), 1280-5
DOI 10.1111/j.1651-2227.2007.00383.x, PubMed 17590194 -
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Am J Hum Genet, 81 (4), 713-25
DOI 10.1086/521373, PubMed 17846997 -
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
BMC Pediatr, 7, 25
DOI 10.1186/1471-2431-7-25, PubMed 17597517 -
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
Acta Paediatr, 97 (1), 35-40
DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719 -
Clinical and psychosocial follow-up study of children treated with extracorporeal membrane oxygenation
Ann Thorac Surg, 84 (4), 1349-55
DOI 10.1016/j.athoracsur.2007.05.019, PubMed 17888996 -
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
DOI 10.1002/ajmg.a.31797, PubMed 17568423
Publications 2006
-
Dissociation following traumatic medical treatment procedures in childhood: a longitudinal follow-up
Dev Psychopathol, 18 (1), 233-51
DOI 10.1017/S0954579406060135, PubMed 16478561 -
An extensive long term follow-up of a cohort of patients with hypoplasia of the left heart
Cardiol Young, 17 (1), 51-5
DOI 10.1017/S1047951106001284, PubMed 17184572 -
Fat-soluble vitamins in breast-fed preterm and term infants
Eur J Clin Nutr, 60 (6), 756-62
DOI 10.1038/sj.ejcn.1602379, PubMed 16452918 -
Chicken cerebellar granule neurons rapidly develop excitotoxicity in culture
J Neurosci Methods, 156 (1-2), 129-35
DOI 10.1016/j.jneumeth.2006.02.012, PubMed 16564575 -
Gross Motor Function Classification System used in adults with cerebral palsy: agreement of self-reported versus professional rating
Dev Med Child Neurol, 48 (9), 734-8
DOI 10.1017/S0012162206001575, PubMed 16904019 -
Microphthalmia and brain atrophy: a novel neurodegenerative disease
Ann Neurol, 59 (4), 719-23
DOI 10.1002/ana.20827, PubMed 16566018 -
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Neuroscience, 145 (4), 1397-406
DOI 10.1016/j.neuroscience.2006.09.025, PubMed 17084038 -
[Cerebral palsy in children--motor function and new treatment strategies]
Tidsskr Nor Laegeforen, 126 (20), 2648-51
PubMed 17057763 -
[Experiences with botulinum toxin injections against spasticity in children]
Tidsskr Nor Laegeforen, 126 (4), 450-2
PubMed 16477283 -
IgA antibodies in Rett syndrome
Autism, 10 (2), 189-97
DOI 10.1177/1362361306062024, PubMed 16613867 -
Measuring health-related quality of life in young adolescents: reliability and validity in the Norwegian version of the Pediatric Quality of Life Inventory 4.0 (PedsQL) generic core scales
Health Qual Life Outcomes, 4, 61
DOI 10.1186/1477-7525-4-61, PubMed 16972987 -
[A ten-year old boy with progressive neurologic outcome]
Tidsskr Nor Laegeforen, 126 (6), 779-81
PubMed 16568569 -
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Brain, 129 (Pt 6), 1438-45
DOI 10.1093/brain/awl107, PubMed 16670177 -
Sulphur anion metabolism in Rett syndrome patients: A pilot study
J. Pediatr. Neurol., 4 (4), 233-237 -
Dimensionality and scalability of the Motor Assessment Scale (MAS)
Disabil Rehabil, 28 (16), 1007-13
DOI 10.1080/09638280500476188, PubMed 16882640
Publications 2005
-
Dissociation in children and adolescents as reaction to trauma--an overview of conceptual issues and neurobiological factors
Nord J Psychiatry, 59 (2), 79-91
DOI 10.1080/08039480510022963, PubMed 16195104 -
Trauma-related dissociative (conversion) disorders in children and adolescents--an overview of assessment tools and treatment principles
Nord J Psychiatry, 59 (4), 278-92
DOI 10.1080/08039480500213683, PubMed 16195132 -
Assessment of early mother-child relation in infants with oesophageal atresia
Nord J Psychiatry, 59 (6), 498-503
DOI 10.1080/08039480500360856, PubMed 16316904 -
Palladium-catalysed synthesis of pyrimidines
Heterocycles, 65 (11), 2593-2603 -
Motor assessment scale in Norway: Translation and inter-rater reliability
Eur. J. Physiother., 7 (1), 7-12
DOI 10.1080/14038190510009441 -
[Gait analysis--a new diagnostic tool]
Tidsskr Nor Laegeforen, 125 (15), 2014-6
PubMed 16100541 -
Predicting carbonate scale in oil producers from high-temperature reservoirs
SPE J., 10 (4), 363-373
DOI 10.2118/87430-PA -
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (15), 2002-4
PubMed 16100537 -
Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters
Neuropediatrics, 36 (1), 40-4
DOI 10.1055/s-2004-830532, PubMed 15776321 -
Large Genomic Rearrangements in MECP2
Hum. Mutat., 25 (3)
DOI 10.1002/humu.9320 -
ARX and other single genes in X-linked mental retardation: revisiting a population-based study
J. Pediatr. Neurol., 3 (2), 121-122 -
Unidirectional suppression of Anaplasma phagocytophilum genotypes in infected lambs
Clin Diagn Lab Immunol, 12 (12), 1448-50
DOI 10.1128/CDLI.12.12.1448-1450.2005, PubMed 16339070
Publications 2004
-
Reliability of the Pediatric Evaluation of Disability Inventory (PEDI)
Phys Occup Ther Pediatr, 24 (3), 61-77
DOI 10.1300/j006v24n03_05, PubMed 15257969 -
[Treatment of patients with neuromuscular disease in a warm climate]
Tidsskr Nor Laegeforen, 124 (13-14), 1795-8
PubMed 15229669 -
[Hypnotherapy in the treatment of refractory nocturnal enuresis]
Tidsskr Nor Laegeforen, 124 (4), 488-91
PubMed 14983195 -
Effect of neuromuscular training on proprioception, balance, muscle strength, and lower limb function in female team handball players
Clin J Sport Med, 14 (2), 88-94
DOI 10.1097/00042752-200403000-00006, PubMed 15014342 -
Locomotion skills in adults with cerebral palsy
Clin Rehabil, 18 (3), 309-16
DOI 10.1191/0269215504cr735oa, PubMed 15137562 -
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 -
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
Clin Dysmorphol, 13 (4), 257-260
DOI 10.1097/00019605-200410000-00012, PubMed 15365465 -
Carbamazepine and myasthenia gravis
Neuropediatrics, 35 (4), 259
DOI 10.1055/s-2004-817956, PubMed 15328570 -
[Orthopaedic problems in adults with cerebral palsy]
Tidsskr Nor Laegeforen, 124 (2), 156-9
PubMed 14743225
Publications 2003
-
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
J. Med. Genet., 40 (5), 380-384
DOI 10.1136/jmg.40.5.380 -
Administration of drugs known to inhibit P-glycoprotein increases brain bilirubin and alters the regional distribution of bilirubin in rat brain
Pediatr Res, 54 (4), 441-5
DOI 10.1203/01.PDR.0000085169.87948.B6, PubMed 12904601 -
Fatigue in adults with cerebral palsy in Norway compared with the general population
Dev Med Child Neurol, 45 (5), 296-303
DOI 10.1017/s0012162203000562, PubMed 12729142 -
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
J Neurol Neurosurg Psychiatry, 74 (4), 536-8
DOI 10.1136/jnnp.74.4.536, PubMed 12640086 -
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
Publications 2002
-
Appendicostomy for antegrade enema: effects on somatic and psychosocial functioning in children with myelomeningocele
Pediatrics, 109 (3), 484-9
DOI 10.1542/peds.109.3.484, PubMed 11875145 -
[Irritable bowel syndrome--a multifactorial disease in children and adults]
Tidsskr Nor Laegeforen, 122 (12), 1213-7
PubMed 12089850 -
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 -
Y chromosome haplogroups in autistic subjects
Mol Psychiatry, 7 (2), 217-9
DOI 10.1038/sj.mp.4000968, PubMed 11840316 -
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX
Neurology, 59 (3), 348-56
DOI 10.1212/wnl.59.3.348, PubMed 12177367 -
Urinary peptides in Rett syndrome
Autism, 6 (3), 315-28
DOI 10.1177/1362361302006003008, PubMed 12212921 -
Intra-tester reproducibility of pressure biofeedback in measurement of transversus abdominis function
Physiother Res Int, 7 (4), 239-49
DOI 10.1002/pri.263, PubMed 12528579 -
Prevalence estimation of Williams syndrome
J Child Neurol, 17 (4), 269-71
DOI 10.1177/088307380201700406, PubMed 12088082 -
The NORBALT project: Comparative studies of living conditions in the three Baltic countries
Soc. Indic. Res., 58 (1-3), 177-189
DOI 10.1023/A:1015735917300
Publications 2001
-
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children
Logoped Phoniatr Vocol, 26 (1), 2-9
PubMed 11432411 -
[Ischemic stroke in children--a diagnostic challenge]
Tidsskr Nor Laegeforen, 121 (15), 1826-8
PubMed 11464690 -
Influence of preeclampsia or maternal intake of omega-3 fatty acids on the vasoactive effect of prostaglandin F-two-alpha in human umbilical arteries
Gynecol Obstet Invest, 52 (2), 75-81
DOI 10.1159/000052947, PubMed 11586032 -
Reduced autonomic activity during stepwise exposure to high altitude
Acta Physiol Scand, 173 (4), 409-17
DOI 10.1046/j.1365-201X.2001.00925.x, PubMed 11903133 -
Presence of ochratoxin A in human milk in relation to dietary intake
Food Addit Contam, 18 (4), 321-7
DOI 10.1080/02652030117740, PubMed 11339267 -
Presence of ochratoxin A in human milk in relation to dietary intake
Food Addit. Contam. Part A-Chem., 18 (4), 321-327
DOI 10.1080/02652030010021477 -
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
Publications 2000
-
Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease
J Child Neurol, 15 (7), 473-7
DOI 10.1177/088307380001500709, PubMed 10921519 -
Aetiology in severe and mild mental retardation: a population-based study of Norwegian children
Dev Med Child Neurol, 42 (2), 76-86
DOI 10.1017/s0012162200000165, PubMed 10698323 -
Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study
Dev Med Child Neurol, 42 (4), 266-70
DOI 10.1017/s0012162200000451, PubMed 10795566 -
Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children
Soc Psychiatry Psychiatr Epidemiol, 35 (1), 12-8
DOI 10.1007/s001270050003, PubMed 10741531 -
Cardiac surgery in a girl with trisomy 13
Cardiol Young, 10 (6), 638-40
DOI 10.1017/s1047951100008945, PubMed 11117399
Publications 1999
-
Mental health, psychosocial functioning, and quality of life in patients with bladder exstrophy and epispadias - an overview
World J Urol, 17 (4), 239-48
DOI 10.1007/s003450050139, PubMed 10460407 -
[Guillain-Barre syndrome. Current treatment principles in the light of clinical aspects]
Tidsskr Nor Laegeforen, 119 (4), 506-9
PubMed 10081373 -
Synthesis of 4-phenylpyrimidine from acetophenone and formamide
Heterocycles, 51 (3), 611-615 -
Effect of formamide in the Leuckart reaction
Acta Chem. Scand., 53 (1), 76-78
DOI 10.3891/acta.chem.scand.53-0076 -
Benign paroxysmal tonic upgaze of a child with positive MRI findings
J Pediatr Ophthalmol Strabismus, 36 (3), 164-6
DOI 10.3928/0191-3913-19990501-18, PubMed 10358824 -
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
J Med Genet, 36 (5), 374-8
PubMed 10353782 -
Multidimensional outcome in juvenile rheumatic diseases: A 9-year prospective follow-up
Nord. J. Psychiatr., 53 (2), 161 -
Can the Harter Self-Perception Profile for Adolescents (SPPA) be used as an indicator of psychosocial outcome in adolescents with chronic physical disorders?
Eur Child Adolesc Psychiatry, 8 (2), 78-85
DOI 10.1007/s007870050088, PubMed 10435456
Publications 1998
-
Long-term functional, manometric, and endosonographic evaluation of patients operated upon with the Duhamel technique
Pediatr Surg Int, 13 (1), 24-8
DOI 10.1007/s003830050236, PubMed 9391199 -
Somatic function, mental health and psychosocial functioning in 22 adolescents with bladder exstrophy and epispadias
J Urol, 159 (5), 1684-9; discussion 1689-90
DOI 10.1097/00005392-199805000-00092, PubMed 9554394 -
Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirschsprung's disease and low anorectal anomalies
J Pediatr Surg, 33 (3), 468-75
DOI 10.1016/s0022-3468(98)90090-2, PubMed 9537559 -
Measuring disability in early juvenile rheumatoid arthritis: evaluation of a Norwegian version of the childhood Health Assessment Questionnaire
J Rheumatol, 25 (9), 1851-8
PubMed 9733471 -
Outcome and predictive factors in juvenile rheumatoid arthritis and juvenile spondyloarthropathy
J Rheumatol, 25 (2), 366-75
PubMed 9489836 -
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 -
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Clin Dysmorphol, 7 (1), 61-3
PubMed 9546834 -
Childhood autism: the need for physical investigations
Brain Dev, 20 (4), 227-33
DOI 10.1016/s0387-7604(98)00031-x, PubMed 9661967 -
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 -
[Syndromes--correct diagnosis means better follow-up]
Tidsskr Nor Laegeforen, 118 (10), 1539
PubMed 9615578 -
Mental retardation in Norway: prevalence and sub-classification in a cohort of 30037 children born between 1980 and 1985
Acta Paediatr, 87 (3), 291-6
DOI 10.1080/08035259850157345, PubMed 9560036 -
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
Hum Genet, 103 (3), 311-8
DOI 10.1007/s004390050822, PubMed 9799086 -
Patient and parent experiences with health care services in pediatric rheumatology
Scand J Rheumatol, 27 (4), 265-72
DOI 10.1080/030097498442370, PubMed 9751466
Publications 1997
-
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
Genomics, 39 (3), 247-53
DOI 10.1006/geno.1996.4488, PubMed 9119361 -
Bowel function, mental health, and psychosocial function in adolescents with Hirschsprung's disease
Arch Dis Child, 76 (2), 100-6
DOI 10.1136/adc.76.2.100, PubMed 9068296 -
Anorectal anomalies: anorectal manometric function and anal endosonography in relation to functional outcome
Pediatr Surg Int, 12 (7), 516-9
DOI 10.1007/BF01258715, PubMed 9238120 -
Outcome and predictive factors in children with chronic idiopathic musculoskeletal pain
Clin Exp Rheumatol, 15 (5), 569-77
PubMed 9307867 -
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 -
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 -
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 -
Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome
Clin Genet, 52 (2), 133
DOI 10.1111/j.1399-0004.1997.tb02532.x, PubMed 9298751 -
Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage
Pediatr Neurol, 16 (2), 141-4
DOI 10.1016/s0887-8994(96)00298-6, PubMed 9090689 -
Psychosocial factors in children with idiopathic musculoskeletal pain: a prospective, longitudinal study
Acta Paediatr, 86 (7), 740-6
DOI 10.1111/j.1651-2227.1997.tb08578.x, PubMed 9240883 -
Psychosocial outcome in juvenile chronic arthritis: a nine-year follow-up
Clin Exp Rheumatol, 15 (5), 561-8
PubMed 9307866
Publications 1996
-
[Reduced blood utilization in hip arthroplasty. Introduction of a blood preservation program]
Tidsskr Nor Laegeforen, 116 (1), 30-3
PubMed 8553331 -
Feeding and nutritional characteristics in children with moderate or severe cerebral palsy
Acta Paediatr, 85 (6), 697-701
DOI 10.1111/j.1651-2227.1996.tb14129.x, PubMed 8816207 -
Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies
J Pediatr Surg, 31 (5), 638-43
DOI 10.1016/s0022-3468(96)90664-8, PubMed 8861471 -
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), 1003-1008 -
Learning disabilities and language pathology in patients with galactosemia
Logoped Phoniatr Vocol, 21 (3-4), 157-62
DOI 10.3109/14015439609098884, PubMed 21275587 -
Unilateral cleft lip in a boy with Angelman syndrome
J Craniofac Genet Dev Biol, 16 (2), 122-5
PubMed 8773903 -
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
Acta Ophthalmol Scand, 74 (1), 45-7
DOI 10.1111/j.1600-0420.1996.tb00680.x, PubMed 8689480 -
A piglet survival model of posthypoxic encephalopathy
Pediatr Res, 40 (5), 738-48
DOI 10.1203/00006450-199611000-00014, PubMed 8910940 -
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
Publications 1995
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DESULFONATION OF ALKANESULFONATES AND SULFONYL CHLORIDES
Acta Chem. Scand., 49 (9), 701-702
DOI 10.3891/acta.chem.scand.49-0701 -
Gangliosides in children with autism
Acta Paediatr, 84 (7), 787-90
DOI 10.1111/j.1651-2227.1995.tb13757.x, PubMed 7549298 -
ACUTE EFFECTS OF 2 DIFFERENT DOSES OF MAGNESIUM-SULFATE IN INFANTS WITH BIRTH ASPHYXIA
Arch. Dis. Child.-Fetal Neonatal Ed., 73 (3), F174-F177
DOI 10.1136/fn.73.3.F174 -
THE NORWEGIAN-OPHTHALMOLOGICAL-SOCIETY SPRING MEETING, BERGEN, NORWAY, 1995 - USE OF MITOMYCIN IN TRABECULECTOMIES
Acta Ophthalmol. Scand., 73 (5), 478-479 -
[Neuronal migration disorders. Radiological and clinical aspects]
Tidsskr Nor Laegeforen, 115 (16), 1952-6
PubMed 7638849 -
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 -
[Rett syndrome--mostly an unsolved mystery]
Tidsskr Nor Laegeforen, 115 (5), 579-80
PubMed 7900106 -
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 -
Impact of pollution and place of residence on atopic diseases among schoolchildren in Telemark County, Norway
Pediatr Allergy Immunol, 6 (4), 192-9
DOI 10.1111/j.1399-3038.1995.tb00284.x, PubMed 8822391 -
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
Publications 1994
-
A psychosocial follow-up of ten adolescents with low anorectal malformation
Acta Paediatr, 83 (2), 216-21
DOI 10.1111/j.1651-2227.1994.tb13054.x, PubMed 8193506 -
Anal endosonography and physiology in adolescents with corrected low anorectal anomalies
J Pediatr Surg, 29 (3), 447-51
DOI 10.1016/0022-3468(94)90589-4, PubMed 8201517 -
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 -
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
Hum Mol Genet, 3 (11), 2037-42
PubMed 7874123 -
[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
Publications 1993
-
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 -
[Encopresis--in a child psychiatric treatment regime]
Tidsskr Nor Laegeforen, 113 (27), 3345-8
PubMed 8273058 -
Intravascular ultrasonographic assessment of thrombus formation on central venous catheters
Acta Radiol, 34 (2), 162-7
DOI 10.1177/028418519303400212, PubMed 8452723 -
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome
Clin Genet, 43 (2), 111-2
DOI 10.1111/j.1399-0004.1993.tb04461.x, PubMed 8448900 -
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
Clin Genet, 44 (3), 149-51
DOI 10.1111/j.1399-0004.1993.tb03867.x, PubMed 8275574 -
Renal cysts in the carbohydrate-deficient glycoprotein syndrome
Pediatr Nephrol, 7 (3), 253-5
DOI 10.1007/BF00853211, PubMed 8518092 -
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
Clin Genet, 44 (4), 208-10
DOI 10.1111/j.1399-0004.1993.tb03881.x, PubMed 8261651 -
Cleft lip and palate, scoliosis, skeletal and cardiac malformations and other dysmorphic features in a child. Case report
Scand J Plast Reconstr Surg Hand Surg, 27 (1), 71-4
DOI 10.3109/02844319309080295, PubMed 8493488
Publications 1992
-
HIGH-FIELD NMR-STUDIES OF TERT-BUTYL CYANIDE IN LIQUID AND SOLID-PHASES
Magn. Reson. Chem., 30 (9), 865-870
DOI 10.1002/mrc.1260300913 -
[Glutaric aciduria type I]
Tidsskr Nor Laegeforen, 112 (8), 1020-2
PubMed 1553724 -
[Use of psychopharmaceuticals in child- and adolescent-outpatient practice]
Tidsskr Nor Laegeforen, 112 (8), 1003-6
PubMed 1553719 -
[Mental retardation in children. Prevalence and etiology]
Tidsskr Nor Laegeforen, 112 (6), 749-51
PubMed 1561594
Publications 1991
-
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 -
[Prader-Willi syndrome]
Nord Med, 106 (6-7), 189-90
PubMed 1852594 -
CLINICAL PRESENTATION AND NATURAL COURSE OF THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 6-13 -
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 -
[Mitochondrial diseases--more common than we realize?]
Tidsskr Nor Laegeforen, 111 (2), 177-9
PubMed 1998173 -
POSTMORTEM FINDINGS IN 2 PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
ACTA PAEDIATR SCAND (375), 55-62 -
The diagnosis of syndromes by use of a dysmorphology database
Acta Paediatr Scand, 80 (1), 106-9
DOI 10.1111/j.1651-2227.1991.tb11741.x, PubMed 2028781 -
[The carbohydrate deficient glycoprotein syndrome]
Tidsskr Nor Laegeforen, 111 (10), 1236-7
PubMed 2042132
Publications 1990
-
Complementation analysis of peroxisomal disorders and classical Refsum
Prog Clin Biol Res, 321, 537-43
PubMed 1691507 -
[Peroxisomal disorders. A new group of metabolic diseases]
Tidsskr Nor Laegeforen, 110 (15), 1943-6
PubMed 2194321 -
[Identification of syndromes using a combined computer and video program]
Tidsskr Nor Laegeforen, 110 (9), 1085-7
PubMed 2184540
Publications 1989
-
[The syringe dispenser project in Larvik. Experiences after one year]
Tidsskr Nor Laegeforen, 109 (32), 3345-8
PubMed 2595707 -
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 -
Studies of glucocorticoid enhancement of the capacity of hepatocytes to accumulate cyclic AMP
Pharmacol Toxicol, 65 (3), 175-80
DOI 10.1111/j.1600-0773.1989.tb01151.x, PubMed 2478993
Publications 1988
-
NATURAL ABUNDANCE C-13 AND DEUTERIUM NMR-STUDIES ON THE LIQUID AND SOLID-PHASES OF TERT-BUTYL CHLORIDE AND TERT-BUTYL NITRATE
Magn. Reson. Chem., 26 (12), 1086-1092
DOI 10.1002/mrc.1260261210 -
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
Publications 1987
-
PROTON AND C-13 NMR RELAXATION STUDIES OF 2,2-DICHLOROPROPANE AND 2,2-DIBROMOPROPANE
Magn. Reson. Chem., 25 (6), 534-538
DOI 10.1002/mrc.1260250616 -
PROTON AND C-13 NMR RELAXATION STUDIES ON TERT-BUTYL THIOL
ACTA CHEM SCAND A, 41 (1), 1-7
DOI 10.3891/acta.chem.scand.41a-0001 -
C-13 NMR LINE-WIDTH AND RELAXATION STUDIES OF TERT-BUTYL BROMIDE AND TERT-BUTYL CYANIDE
Magn. Reson. Chem., 25 (12), 1063-1068
DOI 10.1002/mrc.1260251209 -
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
Publications 1986
-
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 -
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 -
Epoxy acids in peroxisomal disorders
Scand J Clin Lab Invest, 46 (1), 95-6
DOI 10.3109/00365518609086487, PubMed 3952444 -
Disorders related to the metabolism of phytanic acid
Scand J Clin Lab Invest Suppl, 184, 3-10
PubMed 2438746
Publications 1985
-
C-13 NMR SPIN-LATTICE RELAXATION AND MOLECULAR-MOTION IN 2-PHENYL-1,3,2-DIOXARSOLANE AND ITS 4-METHYL AND 4,5-DIMETHYL DERIVATIVES
Magn. Reson. Chem., 23 (4), 253-258
DOI 10.1002/mrc.1260230409
Publications 1984
-
C-13 NMR SPIN-LATTICE RELAXATION STUDIES ON 2-CHLORO-1,3,2-DIOXARSOLANE AND ITS RING-SUBSTITUTED METHYL-DERIVATIVES
ACTA CHEM SCAND A, 38 (10), 781-787
DOI 10.3891/acta.chem.scand.38a-0781 -
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
Publications 1982
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EFFECTS OF PROTEIN-DEGRADATION INHIBITORS ON THE INACTIVATION OF TYROSINE AMINOTRANSFERASE, TRYPTOPHAN OXYGENASE AND BENZOPYRENE HYDROXYLASE IN ISOLATED RAT HEPATOCYTES
Biochem. J., 202 (1), 191-196
DOI 10.1042/bj2020191 -
[Rectal administration of diazepam in solution in dental treatment of mentally retarded patients]
Tidsskr Nor Laegeforen, 102 (17-18), 978-9
PubMed 7157275