Publications by Magnhild Rasmussen
69 publications found
Original articles
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
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
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
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
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
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 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
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
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
[Not Available]
Tidsskr Nor Laegeforen, 138 (15)
DOI 10.4045/tidsskr.18.0630, PubMed 30277043
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
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications
Epilepsia, 59 (8), 1595-1602
DOI 10.1111/epi.14459, PubMed 29920680
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627
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
[Not Available]
Tidsskr Nor Laegeforen, 137 (14-15)
DOI 10.4045/tidsskr.17.0519, PubMed 28828824
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
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
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
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
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
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
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
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Am J Med Genet A, 167A (2), 296-312
DOI 10.1002/ajmg.a.36887, PubMed 25604658
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
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Lancet Neurol, 12 (12), 1159-69
DOI 10.1016/S1474-4422(13)70258-8, PubMed 24183309
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Brain, 136 (Pt 4), 1146-54
DOI 10.1093/brain/awt021, PubMed 23449775
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
Neuromuscular disorders in children in South-Eastern Norway
J. Pediatr. Neurol., 10 (2), 95-100
DOI 10.3233/JPN-2012-0542
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
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
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
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Am J Hum Genet, 81 (4), 713-25
DOI 10.1086/521373, PubMed 17846997
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
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
[Pyridoxine-dependent seizures]
Tidsskr Nor Laegeforen, 124 (2), 162-4
PubMed 14743226
Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease
J Child Neurol, 15 (7), 473-7
DOI 10.1177/088307380001500709, PubMed 10921519
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
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Clin Dysmorphol, 7 (1), 61-3
PubMed 9546834
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
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
J Pediatr, 127 (1), 13-22
DOI 10.1016/s0022-3476(95)70250-4, PubMed 7541833
Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil)
Neurochem Res, 19 (8), 1073-82
DOI 10.1007/BF00968719, PubMed 7800117
[Asperger's syndrome]
Tidsskr Nor Laegeforen, 113 (22), 2807-10
PubMed 7692619
[Use of psychopharmaceuticals in child- and adolescent-outpatient practice]
Tidsskr Nor Laegeforen, 112 (8), 1003-6
PubMed 1553719
Retinol and retinyl esters in patients with alcoholic liver disease
J Hepatol, 8 (1), 26-31
DOI 10.1016/0168-8278(89)90158-x, PubMed 2921501
Intestinal retinol esterification and serum retinol in children with cystic fibrosis
J Pediatr Gastroenterol Nutr, 5 (3), 397-403
DOI 10.1097/00005176-198605000-00011, PubMed 3723258
Hepatic retinol metabolism. Distribution of retinoids, enzymes, and binding proteins in isolated rat liver cells
J Biol Chem, 260 (25), 13560-5
PubMed 2997171
Retinol esterification in cultured rat liver cells
Biochem J, 230 (3), 617-23
DOI 10.1042/bj2300617, PubMed 4062867
Retinol and retinyl esters in parenchymal and nonparenchymal rat liver cell fractions after long-term administration of ethanol
J Lipid Res, 26 (9), 1112-9
PubMed 4067432
Liver retinoids and retinol esterification in fetal and pregnant rats at term
Scand J Gastroenterol, 20 (6), 696-700
DOI 10.3109/00365528509089197, PubMed 4035289
The activity of acyl CoA: retinol acyltransferase in the rat: variation with vitamin A status
Br J Nutr, 51 (2), 245-53
DOI 10.1079/bjn19840029, PubMed 6704372
Microsomal esterification of retinol in human liver
Acta Med Scand, 216 (4), 403-7
DOI 10.1111/j.0954-6820.1984.tb03824.x, PubMed 6516908
In vivo uptake of chylomicron [3H]retinyl ester by rat liver: evidence for retinol transfer from parenchymal to nonparenchymal cells
Proc Natl Acad Sci U S A, 79 (23), 7326-30
DOI 10.1073/pnas.79.23.7326, PubMed 6961410
Review articles
[Juvenile-onset muscular diseases]
Tidsskr Nor Laegeforen, 137 (2), 108-111
DOI 10.4045/tidsskr.16.0623, PubMed 28127073
Duchenne muscular dystrophy
Tidsskr Nor Laegeforen, 134 (14), 1361-4
DOI 10.4045/tidsskr.13.0836, PubMed 25096430
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (15), 2002-4
PubMed 16100537
Other articles
[Not Available]
Tidsskr Nor Laegeforen, 143 (14)
DOI 10.4045/tidsskr.23.0346, PubMed 37830969
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
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291
Common promises for patients with neuromuscular diseases
Tidsskr. Nor. Laegeforen., 138 (15), 1408-1409
[Not Available]
Tidsskr Nor Laegeforen, 138 (14)
DOI 10.4045/tidsskr.18.0580, PubMed 30234257
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
Muscle disorders with onset in childhood
Tidsskr. Nor. Laegeforen., 137 (2), 108-111
[Together for patients with hereditary neuromuscular conditions]
Tidsskr Nor Laegeforen, 136 (14-15), 1198-9
DOI 10.4045/tidsskr.16.0502, PubMed 27554555
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
[Infantile spasms]
Tidsskr Nor Laegeforen, 125 (16), 2248
PubMed 16138162
Carbamazepine and myasthenia gravis
Neuropediatrics, 35 (4), 259
DOI 10.1055/s-2004-817956, PubMed 15328570
Books
Studies on retinol metabolism: esterification and liver storage
The Norwegian Cancer Society, Oslo, 1 b. (flere pag.)
BIBSYS 862041082, ISBN 82-90187-17-3
Book chapters
Cerebral parese
In Hjerne og atferd: utviklingsforstyrrelser hos barn og ungdom i et nevrobiologisk perspektiv -et skritt videre, Gyldendal Akademisk, Oslo, s. 304-332
BIBSYS 040869660