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An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts

Health and quality of life outcomes, 2015-08, Vol.13 (1), p.115-115, Article 115

2015

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Smoking and socio-economic status may affect myasthenia gravis

European journal of neurology, 2013-03, Vol.20 (3), p.453-460

2013

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Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

Brain (London, England : 1878), 2009-06, Vol.132 (6), p.1577-1588

2009

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SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

Acta neurologica Scandinavica, 2012-02, Vol.125 (2), p.116-122

2012

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Miglustat therapy in juvenile Sandhoff disease

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.289-293

2009

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Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

Journal of the neurological sciences, 2009-02, Vol.277 (1), p.124-129

2009

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway

European journal of neurology, 2016-04, Vol.23 (4), p.763-771

2016

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Phenotype of adult Refsum disease due to a defect in peroxin 7

Neurology, 2007-02, Vol.68 (9), p.698-700

2007

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Ataxia with vitamin E deficiency in southeast Norway, case report

Acta neurologica Scandinavica, 2009-08, Vol.120 (s189), p.42-45

2009

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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

Neurology, 2006-03, Vol.66 (5), p.654-659

2006

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EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

European journal of neurology, 2010-02, Vol.17 (2), p.179-188

2010

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Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

Acta neurologica Scandinavica, 2014-04, Vol.129 (s198), p.7-12

2014

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EFNS guidelines on the molecular diagnosis of mitochondrial disorders

European journal of neurology, 2009-12, Vol.16 (12), p.1255-1264

2009

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.726-736

2020

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Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

European journal of neurology, 2007-07, Vol.14 (7), p.809-814

2007

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Cerebellar ataxia in the eastern and southern parts of Norway

Acta neurologica Scandinavica, 2007-05, Vol.115 (s187), p.76-79

2007

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Development and Validation of a Self-Administered Questionnaire for Myasthenia Gravis Patients

Neuroepidemiology, 2010-01, Vol.34 (4), p.253-261

2010

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SPG11 - the most common type of recessive spastic paraplegia in Norway?

Acta neurologica Scandinavica, 2008-05, Vol.117 (s188), p.46-50

2008

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The impact of gender, puberty, and pregnancy in patients with POLG disease

Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025

2020

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Thiamin and Thiamin Phosphate Ester Deficiency Assessed by High Performance Liquid Chromatography in Four Clinical Cases of Wernicke Encephalopathy

Alcoholism, clinical and experimental research, 1993-06, Vol.17 (3), p.712-716

1993

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Kinetics of thiamin and thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally

European journal of clinical pharmacology, 1993, Vol.44 (1), p.73-78

1993

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Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease

Clinical endocrinology (Oxford), 2013-09, Vol.79 (3), p.316-320

2013

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Excitatory effect of thiamin on CA1 pyramidal neurones in rat hippocampal slices in vitro

European journal of neurology, 2000-12, Vol.7 (6), p.693-698

2000

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A founder mutation p.H701P identified as a major cause of SPG 7 in Norway

European journal of neurology, 2016-04, Vol.23 (4), p.763-771

2016

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Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals

The American journal of clinical nutrition, 1992-09, Vol.56 (3), p.559-564

1992

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An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts

Smoking and socio-economic status may affect myasthenia gravis

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

Miglustat therapy in juvenile Sandhoff disease

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

A founder mutation p.H701P identified as a major cause of SPG7 in Norway

Phenotype of adult Refsum disease due to a defect in peroxin 7

Ataxia with vitamin E deficiency in southeast Norway, case report

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

Cerebellar ataxia in the eastern and southern parts of Norway

Development and Validation of a Self-Administered Questionnaire for Myasthenia Gravis Patients

SPG11 - the most common type of recessive spastic paraplegia in Norway?

The impact of gender, puberty, and pregnancy in patients with POLG disease

Thiamin and Thiamin Phosphate Ester Deficiency Assessed by High Performance Liquid Chromatography in Four Clinical Cases of Wernicke Encephalopathy

Kinetics of thiamin and thiamin phosphate esters in human blood, plasma and urine after 50 mg intravenously or orally

Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease

Excitatory effect of thiamin on CA1 pyramidal neurones in rat hippocampal slices in vitro

A founder mutation p.H701P identified as a major cause of SPG 7 in Norway

Concentrations of the water-soluble vitamins thiamin, ascorbic acid, and folic acid in serum and cerebrospinal fluid of healthy individuals

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