C. Tallaksen

发表

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

A. Durr, N. Elleuch, C. Depienne, 2006, Neurology.

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

D. Timmann, S. Tezenas du Montcel, P. Bauer, 2017, Neurology.

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

F. Lamari, J. Koht, M. D. Vigeland, 2020, Journal of the Neurological Sciences.

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

P. Sowa, J. Koht, M. D. Vigeland, 2019, Brain : a journal of neurology.

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

T. Bøhmer, C. Tallaksen, H. Bell, 1992, The American journal of clinical nutrition.

Molecular Diagnosis of Mitochondrial Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Serum carbohydrate-deficient transferrin as a marker of alcohol consumption in patients with chronic liver diseases.

E. Haug, K. Try, H. Bell, 1993, Alcoholism, clinical and experimental research.

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

D. Misceo, J. Koht, L. Bindoff, 2014, PloS one.

Late Onset Myasthenia Gravis Is Associated with HLA DRB1*15:01 in the Norwegian Population

B. Lie, H. Harbo, E. Kerty, 2012, PloS one.

Increased risk for clinical onset of myasthenia gravis during the postpartum period

J. Verschuuren, H. Weedon-Fekjær, C. Brunborg, 2016, Neurology.

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

E. Husebye, J. Månsson, M. Horn, 2013, Clinical endocrinology.

Geographical Distribution of Myasthenia Gravis in Northern Europe - Results from a Population-Based Study from Two Countries

J. Verschuuren, C. Brunborg, E. Niks, 2015, Neuroepidemiology.

Ataxia with vitamin E deficiency in southeast Norway, case report

J. Koht, E. Jørum, C. Tallaksen, 2009, Acta neurologica Scandinavica. Supplementum.

Survival and severity in dominant cerebellar ataxias

S. Tezenas du Montcel, A. Durr, S. Forlani, 2015, Annals of clinical and translational neurology.

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

A. Durr, D. Campion, A. Brice, 2002, Journal of medical genetics.

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications

S. Rahman, E. Brodtkorb, L. Bindoff, 2018, Epilepsia.

Smoking and socio‐economic status may affect myasthenia gravis

H. Harbo, C. Brunborg, C. Tallaksen, 2013, European journal of neurology.

Parental SCN1A mutation mosaicism in familial Dravet syndrome

T. Egeland, A. Eriksson, D. Undlien, 2009, Clinical genetics.

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

A. Durr, C. Depienne, A. Brice, 2005, Journal of Medical Genetics.

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

J. Karlsen, T. Bøhmer, A. Sande, 2004, European Journal of Clinical Pharmacology.

Determination of thiamin and its phosphate esters in human blood, plasma, and urine.

J. Karlsen, T. Bøhmer, C. Tallaksen, 1997, Methods in enzymology.

Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

T. Fagerheim, C. Vedeler, K. Ørstavik, 2018, Neuromuscular Disorders.

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

A. Durr, S. Forlani, C. Depienne, 2009, Human mutation.

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

A. Brice, G. Stevanin, P. Denora, 2008, Acta neurologica Scandinavica. Supplementum.

En ung kvinne som mistet kraften i ett bein

Ø. Braaten, I. A. Hovden, C. Tallaksen, 2011 .

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

A. Durr, A. Brice, G. Stevanin, 2012, Acta neurologica Scandinavica.

The presence of anaemia negatively influences survival in patients with POLG disease

S. Rahman, E. Brodtkorb, L. Bindoff, 2017, Journal of Inherited Metabolic Disease.

Spastic Paraplegia 4

A. Durr, C. Depienne, C. Tallaksen, 2012 .

Blood and serum thiamin and thiamin phosphate esters concentrations in patients with alcohol dependence syndrome before and after thiamin treatment.

T. Bøhmer, C. Tallaksen, H. Bell, 1992, Alcoholism, clinical and experimental research.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

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

S. Rahman, E. Brodtkorb, Christian Samsonsen, 2020, Annals of clinical and translational neurology.

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

S. Rahman, E. Brodtkorb, L. Bindoff, 2020, Journal of inherited metabolic disease.

Carbohydrate-deficient transferrin and other markers of high alcohol consumption: a study of 502 patients admitted consecutively to a medical department.

E. Haug, K. Try, H. Bell, 1994, Alcoholism, clinical and experimental research.

Prevalence and clinical aspects of immigrants with myasthenia gravis in northern Europe

J. Verschuuren, C. Brunborg, E. Niks, 2017, Muscle & nerve.

[Myasthenia gravis - optimal treatment and accurate diagnosis].

E. Kerty, N. Gilhus, S. Løseth, 2016, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Concomitant determination of thiamin and its phosphate esters in human blood and serum by high-performance liquid chromatography.

J. Karlsen, T. Bøhmer, C. Tallaksen, 1991, Journal of chromatography.

The concentration of thiamin and thiamin phosphate esters in patients with alcoholic liver cirrhosis.

T. Bøhmer, C. Tallaksen, H. Bell, 1992, Alcohol and Alcoholism.

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

N. Blau, J. Koht, C. Tallaksen, 2014, Acta neurologica Scandinavica. Supplementum.

Thiamin and thiamin phosphate ester deficiency assessed by high performance liquid chromatography in four clinical cases of Wernicke encephalopathy.

T. Bøhmer, C. Tallaksen, H. Bell, 1993, Alcoholism, clinical and experimental research.

Elevated plasma thiamin concentrations in patients with rhabdomyolysis.

T. Bøhmer, C. Tallaksen, H. Bell, 1994, Clinical nutrition.

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Z. Iqbal, M. Bjørås, G. Slupphaug, 2016, Human molecular genetics.

Novel UCHL1 mutations reveal new insights into ubiquitin processing.

Z. Iqbal, M. Bjørås, G. Slupphaug, 2017, Human molecular genetics.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

F. Pasquier, A. Durr, D. Hannequin, 2008, Brain : a journal of neurology.

Risk for myasthenia gravis maps to a 151Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08

Soumya Raychaudhuri, David McKee, Henri-Jean Garchon, 2012, Annals of neurology.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

Investigation for RAPSN and DOK‐7 mutations in a cohort of seronegative myasthenia gravis patients

N. Gilhus, G. Skeie, C. Tallaksen, 2011, Muscle & nerve.

A polymorphic Alu insertion that mediates distinct disease-associated deletions

C. Beetz, T. Deufel, A. Erichsen, 2016, European Journal of Human Genetics.

1439 Environmental Factors of Importance in Myasthenia Gravis Emphasis on Physical Activity ELISABET WESTERBERG

Elisabet Westerberg, C. Tallaksen, T. Danielsson, 2018 .

A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis.

K. Kleopa, T. Stojkovic, R. Mantegazza, 2014, Journal of autoimmunity.

The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis.

S. Berrih-Aknin, J. Bismuth, Géraldine Cizeron-Clairac, 2006, Blood.

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Zafar Iqbal, Lasse Pihlstrøm, Mathias Toft, 2017, PloS one.

Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

S. Ferdinandusse, R. Wanders, S. Mellgren, 2015, Clinical case reports.

Homocarnosinosis: A historical update and findings in the SPG11 gene

N. Blau, A. Stray-Pedersen, J. Koht, 2018, Acta neurologica Scandinavica.

Recent advances in hereditary spastic paraplegia

A. Dürr, A. Brice, C. Tallaksen, 2001, Current opinion in neurology.

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

A. Stray-Pedersen, J. Koht, M. Abdelnoor, 2009, Brain : a journal of neurology.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.

M. Abdelnoor, M. Horn, O. Skjeldal, 2013, Pediatric neurology.

Postradiation lower motor neuron syndrome--a case report and brief literature review.

S. Fosså, C. Tallaksen, V. Jetne, 1997, Acta oncologica.

VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

B. Lie, H. Harbo, S. Horn-Saban, 2014, Annals of clinical and translational neurology.

Autosomal dominant hereditary ataxia in Sri Lanka

C. Tallaksen, V. Dissanayake, R. Jayasekara, 2013, BMC Neurology.

Autosomal dominant hereditary ataxia in

S. Lanka, C. Tallaksen, V. Dissanayake, 2013 .

Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

T. Fiskerstrand, P. Knappskog, K. Selmer, 2015, Orphanet Journal of Rare Diseases.

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

H. Moser, M. Durán, D. M. van den Brink, 2007, Neurology.

Benign hereditary chorea, not only chorea: a family case presentation

M. Vidailhet, J. Koht, M. Louha, 2016, Cerebellum & Ataxias.

Visual hallucinations in a case of reversible hypertension‐induced brain oedema

E. Kerty, S. Bakke, C. Tallaksen, 1998, European journal of neurology.

Long‐term follow‐up, quality of life, and survival of patients with Lambert‐Eaton myasthenic syndrome

E. V. van Zwet, J. Verschuuren, M. Titulaer, 2019, Neurology.

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

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

C. Brunborg, C. Tallaksen, A. Maniaol, 2010, Neuroepidemiology.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

M. Ruberg, A. Durr, S. Forlani, 2006, Journal of Medical Genetics.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

SPATAX- European Network for Hereditary Spinocerebellar Degenerative Disorders

A. Durr, C. Tallaksen, 2003 .

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

S. Klebe, A. Durr, P. Bauer, 2010, European Journal of Human Genetics.

Subtle cognitive impairment but no dementia in patients with spastin mutations.

B. Dubois, M. Ruberg, A. Durr, 2003, Archives of neurology.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia

C. Funke, A. Dudesek, F. Rimmele, 2018, European journal of neurology.

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

S. Lehéricy, D. Timmann, S. Tsuji, 2016, Movement disorders clinical practice.

Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

E. Dietrichs, N. Landrø, J. Koht, 2013, BMC Neurology.

Miglustat therapy in juvenile Sandhoff disease

C. Tallaksen, J. Berg, 2009, Journal of Inherited Metabolic Disease.

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

K. Heimdal, S. Johansson, O. Bruland, 2014, Orphanet Journal of Rare Diseases.

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

J. Verschuuren, C. Brunborg, E. Niks, 2015, Health and Quality of Life Outcomes.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia

L. Schöls, T. Klockgether, A. Filla, 2023, Movement disorders : official journal of the Movement Disorder Society.

J. Koht, L. Bindoff, C. Tallaksen, 2019, Cerebellum & Ataxias.

Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy

S. Mellgren, M. Horn, K. Nilsen, 2014, Neurology.

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

N. Landrø, L. Sandvik, A. Server, 2009, Journal of the Neurological Sciences.

Hereditary Spastic Paraplegia Exon Deletions of SPG 4 are a Frequent Cause of

M. Ruberg, S. Forlani, C. Depienne, 2006 .

Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study

E. Celius, T. Holmøy, E. Eriksen, 2016, BMC Neurology.

Cancer and neurodegeneration

U. Müller, C. Tallaksen, 2017, Neurology.

Benign hereditary chorea, not only chorea: a family case presentation

M. Vidailhet, J. Koht, M. Louha, 2016, Cerebellum & Ataxias.

Mental health and health related quality of life in mitochondrial POLG disease.

E. Brodtkorb, L. Bindoff, I. Elgen, 2020, Mitochondrion.

[A young woman with a weakening leg].

T. Holmøy, Ø. Braaten, I. A. Hovden, 2011, Tidsskrift for Den Norske Laegeforening.

MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study

K. Kleopa, R. Mantegazza, T. Sharshar, 2015, Journal of Neuroimmunology.

Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

M. Abdelnoor, M. Horn, O. Skjeldal, 2015, Brain : a journal of neurology.

J. Koht, L. Bindoff, C. Tallaksen, 2019, Cerebellum & Ataxias.

Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

Cerebellar ataxia in the eastern and southern parts of Norway

J. Koht, C. Tallaksen, 2007, Acta neurologica Scandinavica. Supplementum.

Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

S. Mellgren, A. Radovic, A. Hietaharju, 2019, Molecular Genetics and Metabolism.

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy

S. Mellgren, A. Radovic, A. Hietaharju, 2018, Muscle & nerve.

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

J. Koht, M. D. Vigeland, Y. Sheng, 2016, European journal of neurology.

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

M. Mattingsdal, A. Erichsen, K. Eiklid, 2007, European journal of neurology.

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

A. Stray-Pedersen, J. Koht, M. Abdelnoor, 2009, Brain : a journal of neurology.

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

A. Durr, S. Forlani, C. Depienne, 2009, Human mutation.

Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.

M. Abdelnoor, M. Horn, O. Skjeldal, 2013, Pediatric neurology.