Publications
Publications by Chantal M.E. Tallaksen
66 publications found
Publications in press
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Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
Clin Endocrinol (Oxf) (in press)
PubMed 23346902 -
Autosomal dominant hereditary ataxia in Sri Lanka
BMC Neurol, 13 (1), 39 (in press)
PubMed 23634774
Publications 2013
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Adrenoleukodystrophy in norway: high rate of de novo mutations and age-dependent penetrance
Pediatr Neurol, 48 (3), 212-9
PubMed 23419472 -
Smoking and socio-economic status may affect myasthenia gravis
Eur J Neurol, 20 (3), 453-60
PubMed 22934661
Publications 2012
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Risk for myasthenia gravis maps to a (151) Pro?Ala change in TNIP1 and to human leukocyte antigen-B*08
Ann Neurol, 72 (6), 927-35
PubMed 23055271 -
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
Acta Neurol Scand, 125 (2), 116-22
PubMed 21434874 -
Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
PLoS One, 7 (5), e36603
PubMed 22590574 -
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
Arch Neurol, 69 (4), 500-8
PubMed 22491195
Publications 2011
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Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients
Muscle Nerve, 43 (4), 574-7
PubMed 21305573 -
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
Eur J Neurol, 18 (2), 207-17
PubMed 20500522 -
[A young woman with a weakening leg]
Tidsskr Nor Laegeforen, 131 (6), 583-6
PubMed 21423311
Publications 2010
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EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
Eur J Neurol, 17 (5), 641-8
PubMed 20298421 -
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
Eur J Neurol, 17 (2), 179-88
PubMed 20050888 -
Development and validation of a self-administered questionnaire for myasthenia gravis patients
Neuroepidemiology, 34 (4), 253-61
PubMed 20299807 -
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
Eur J Hum Genet, 18 (9), 1065-7
PubMed 20461110 -
Multi-system neurological disease is common in patients with OPA1 mutations
Brain, 133 (Pt 3), 771-86
PubMed 20157015
Publications 2009
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Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
PubMed 19339254 -
Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations
J Neurol Sci, 277 (1-2), 124-9
PubMed 19084842 -
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
Eur J Neurol, 16 (12), 1255-64
PubMed 19950421 -
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
Hum Mutat, 30 (2), E376-85
PubMed 18853458 -
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias
Eur J Neurol, 16 (7), 777-85
PubMed 19469830 -
Ataxia with vitamin E deficiency in southeast Norway, case report
Acta Neurol Scand Suppl (189), 42-5
PubMed 19566498 -
Parental SCN1A mutation mosaicism in familial Dravet syndrome
Clin Genet, 76 (4), 398-403
PubMed 19673951 -
Miglustat therapy in juvenile Sandhoff disease
J Inherit Metab Dis, 32 Suppl 1, S289-93
PubMed 19898953 -
O-demethylation of codeine to morphine inhibited by low-dose levomepromazine
Eur J Clin Pharmacol, 65 (8), 795-801
PubMed 19308365
Publications 2008
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SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta Neurol Scand Suppl, 188, 46-50
PubMed 18439221 -
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Brain, 131 (Pt 3), 772-84
PubMed 18079167 -
[Hereditary ataxias]
Tidsskr Nor Laegeforen, 128 (17), 1977-80
PubMed 18787576
Publications 2007
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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
J Med Genet, 44 (4), 281-4
PubMed 17098887 -
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Eur J Neurol, 14 (7), 809-14
PubMed 17594340 -
Phenotype of adult Refsum disease due to a defect in peroxin 7
Neurology, 68 (9), 698-700
PubMed 17325280 -
Cerebellar ataxia in the eastern and southern parts of Norway
Acta Neurol Scand Suppl, 187, 76-9
PubMed 17419835
Publications 2006
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Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555
Hum Genet, 118 (6), 782
PubMed 17297711 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516
Hum Genet, 118 (6), 785
PubMed 17297722 -
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552
Hum Genet, 118 (6), 781
PubMed 17297708 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556
Hum Genet, 118 (6), 782
PubMed 17297712 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553
Hum Genet, 118 (6), 782
PubMed 17297709 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557
Hum Genet, 118 (6), 783
PubMed 17297713 -
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
J Med Genet, 43 (3), 259-65
PubMed 16055926 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554
Hum Genet, 118 (6), 782
PubMed 17297710 -
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515
Hum Genet, 118 (6), 785
PubMed 17297721 -
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519
Hum Genet, 118 (6), 776
PubMed 17297686 -
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Neurology, 66 (5), 654-9
PubMed 16534102 -
The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis
Blood, 108 (2), 432-40
PubMed 16543475
Publications 2004
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[Genetics in movement disorders--dystonia, tremor and chorea]
Tidsskr Nor Laegeforen, 124 (17), 2236-7
PubMed 15356687 -
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
Arch Neurol, 61 (12), 1867-72
PubMed 15596607 -
[The genetics of movement disorders--spinocerebellar degenerations]
Tidsskr Nor Laegeforen, 124 (17), 2233-5
PubMed 15356686
Publications 2003
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Subtle cognitive impairment but no dementia in patients with spastin mutations
Arch Neurol, 60 (8), 1113-8
PubMed 12925368
Publications 2002
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Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease
J Med Genet, 39 (2), E2
PubMed 11836371
Publications 2001
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Recent advances in hereditary spastic paraplegia
Curr Opin Neurol, 14 (4), 457-63
PubMed 11470961
Publications 2000
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Excitatory effect of thiamin on CA1 pyramidal neurones in rat hippocampal slices in vitro
Eur J Neurol, 7 (6), 693-8
PubMed 11136357
Publications 1999
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[Normal pressure hydrocephalus--evaluation of investigation procedures]
Tidsskr Nor Laegeforen, 119 (12), 1744-9
PubMed 10380589
Publications 1998
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[Thiamine treatment today]
Tidsskr Nor Laegeforen, 118 (25), 3946-9
PubMed 9830340 -
Visual hallucinations in a case of reversible hypertension-induced brain oedema
Eur J Neurol, 5 (6), 615-618
PubMed 10210899
Publications 1997
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Determination of thiamin and its phosphate esters in human blood, plasma, and urine
Methods Enzymol, 279, 67-74
PubMed 9211258 -
Postradiation lower motor neuron syndrome--a case report and brief literature review
Acta Oncol, 36 (3), 345-7
PubMed 9208910
Publications 1994
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Carbohydrate-deficient transferrin and other markers of high alcohol consumption: a study of 502 patients admitted consecutively to a medical department
Alcohol Clin Exp Res, 18 (5), 1103-8
PubMed 7847591 -
[Scurvy with simultaneous wet beriberi in 2 patients]
Tidsskr Nor Laegeforen, 114 (27), 3181-3
PubMed 7809869 -
Elevated plasma thiamin concentrations in patients with rhabdomyolysis
Clin Nutr, 13 (2), 123-4
PubMed 16843371
Publications 1993
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Serum carbohydrate-deficient transferrin as a marker of alcohol consumption in patients with chronic liver diseases
Alcohol Clin Exp Res, 17 (2), 246-52
PubMed 8488962 -
Thiamin and thiamin phosphate ester deficiency assessed by high performance liquid chromatography in four clinical cases of Wernicke encephalopathy
Alcohol Clin Exp Res, 17 (3), 712-6
PubMed 8333605 -
Kinetics of thiamin and thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally
Eur J Clin Pharmacol, 44 (1), 73-8
PubMed 8436160
Publications 1992
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The concentration of thiamin and thiamin phosphate esters in patients with alcoholic liver cirrhosis
Alcohol Alcohol, 27 (5), 523-30
PubMed 1476555 -
Blood and serum thiamin and thiamin phosphate esters concentrations in patients with alcohol dependence syndrome before and after thiamin treatment
Alcohol Clin Exp Res, 16 (2), 320-5
PubMed 1317136 -
Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals
Am J Clin Nutr, 56 (3), 559-64
PubMed 1503069
Publications 1991
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Concomitant determination of thiamin and its phosphate esters in human blood and serum by high-performance liquid chromatography
J Chromatogr, 564 (1), 127-36
PubMed 1860908




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