List of works by Laurence Bindoff

116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands.

scientific article published on November 2003

3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis

scientific article

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

scientific article published on 01 October 1999

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

scientific article published in February 2018

A family with atypical CADASIL.

scientific article published on 5 April 2011

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

scientific article published on 3 June 2016

A hospital based epidemiological study of genetically determined muscle disease in south western Norway

scientific article published on 04 February 2020

A multicenter study on Leigh syndrome: disease course and predictors of survival

scientific article

A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis

scientific article published on 01 April 2011

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

scientific article

A novel Refsum-like disorder that maps to chromosome 20.

scientific article

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype

scientific article

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

article

A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

scientific article published on 10 September 2009

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

scientific article published in June 2004

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

scientific article published on 23 April 2016

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

scientific article published on 12 June 2013

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

scientific article published in Journal of Biological Chemistry

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

scientific article published in April 1998

Absence of immunoreactive enzyme protewin in short-chain acylcoenzyme a dehydrogenase deficiency

scientific article published on 01 November 1990

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

scientific article

Acute dystonia caused by metoclopramide (Afipran) therapy

scientific article published in August 2001

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

scientific article published on 12 October 2012

An Antisense Oligodeoxynucleotide Approach to Investigate the Function of the Nuclear-Encoded Subunits of Human Cytochrome c Oxidase

scientific article published on 01 October 1993

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

scientific article

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

scientific article published in February 1994

Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders

scientific article published in May 2003

Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis

article

Ataxia in mitochondrial disorders

scientific article published on January 2012

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

scientific article published in April 2005

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

scientific article

Biochemical investigation of muscle disease.

scientific article published on November 1989

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

scientific article

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

scientific article published on 10 April 2017

Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure

scientific article published in January 2007

Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase

scientific article published on January 1, 1992

Combined enzyme defect of mitochondrial fatty acid oxidation

scientific article (publication date: October 1992)

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"

scientific article published on 07 November 2020

Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR

article

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

scientific article published on 01 April 2019

Correlation between genetic and geographic structure in Europe

scientific article

Cystic dilation of Virchow-Robin spaces in the midbrain

scientific article published in January 2002

Cytochromec oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

scientific article published on 01 January 1993

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

scientific article

Defects of the respiratory chain.

scientific article published on September 1990

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

scientific article published on 01 February 1996

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

scientific article published in July 1996

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

scientific article

Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations

scientific article published on 25 August 2020

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study

scientific article published on 09 October 2018

Dopa-responsive dystonia--a hereditary dystonia easy to treat

scientific article published in February 2002

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

scientific article published on 01 January 1995

EFNS review on the role of muscle biopsy in the investigation of myalgia.

scientific article published on 30 April 2013

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

scientific article published on 19 June 2018

En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt

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

scientific article published on 26 September 2017

Experimental (-) emetine myopathy. Ultrastructural and morphometric observations

scientific article published in November 1978

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

scientific article published on 3 August 2011

Facial vasculitic rash associated with intravenous immunoglobulin.

scientific article

Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex

scientific article published on 01 November 1989

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

scientific article published in January 1993

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

scientific article published on 11 November 2015

Felles løft for pasienter med nevromuskulære sykdommer

scientific article published on 26 September 2018

Focal myositis – A neurogenic phenomenon?

scientific article published on 09 December 2011

Future of Neurologic Examination in Clinical Practice

scientific article published on 01 March 2018

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

scientific article

Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension

scientific article published on 30 March 2015

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

scientific article published on 14 December 2008

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study

scientific article

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

scientific article published on 30 March 2015

Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures

scientific article

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

article

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

scientific article published on 26 January 2015

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

scientific article published on 22 December 2016

Insulin and proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNA(Leu(UUR)) mutation.

scientific article published in November 1995

Insulin sensitivity and mitochondrial gene mutation.

scientific article published in February 1995

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

scientific article

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

scientific article (publication date: 15 September 2003)

Joint meeting of the Association of British Neurologists and theNorwegian Neurological Association on the coastalsteamer Hurtigruten, 6-9 May 2001.

scientific article published in September 2001

Late-onset mitochondrial disorder with electromyographic evidence of myotonia

article

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

scientific article published in June 1992

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

scientific article

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

article

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

scientific article published on 16 April 2010

Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

scientific article published on 01 January 2000

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

scientific article published in August 1999

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

article

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

article

MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE

scientific article published in The Lancet

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

scientific article published on 3 January 2013

MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations

scientific article

Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population

scientific article published on 01 June 1997

Methylprednisolone in multiple sclerosis: a comparative dose study

scientific article published on August 1988

Mitochondria and the heart

scientific article published on 01 February 2003

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations

scientific article

Mitochondrial DNA depletion in sporadic inclusion body myositis

scientific article published on 10 February 2019

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

scientific article published on 12 March 2016

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial diseases and epilepsy

scientific article published on September 2012

Mitochondrial function and pathology in status epilepticus

scholarly article by Laurence Bindoff published October 2011 in Epilepsia

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

scientific article published in September 1992

Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase

scientific article

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene

scientific article

Molecular pathogenesis of polymerase γ-related neurodegeneration

scientific article published on 14 June 2014

Morphologic aspects of muscle breakdown and lysosomal activation ⬇️

scientific article published on January 1, 1979

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

scientific article

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

scientific article

Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy

scientific article published on 01 September 1989

Multiple sclerosis - a mitochondria-mediated disease?

scientific article

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

scientific article

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

scientific article published on 3 December 2013

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

article

Neurofilament light chain predicts disease activity in relapsing-remitting MS.

scientific article published on 28 November 2017

Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations

scientific article published on 10 June 2008

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

scientific article published on 28 January 2009

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Nigrostriatal denervation sine parkinsonism

scientific article published on 25 January 2016

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

scientific article published on 9 November 2016

Nonrandom tissue distribution of mutant mtDNA

scientific article published on 01 August 1999

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article (publication date: 2013)

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

scientific article

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

scientific article published on 29 August 2012

Når det vanligste ikke er forklaringen

scientific article published on 01 March 2011

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

scientific article

Opsoclonus myoclonus syndrome in two cases with neuroborreliosis

scientific article published in December 2007

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

scientific article published on 10 May 2016

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

scientific article

Palatal tremor and facial dyskinesia in a patient withPOLG1mutation

scientific article published on 01 August 2008

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

scientific article

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

scientific article published on 29 September 2010

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

scientific article published on April 1995

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

scientific article published on 18 October 2010

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

scientific article

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation ⬇️

scientific article published in Journal of Biological Chemistry

Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease

scientific article published in August 1991

Reversal of a mitochondrial DNA defect in human skeletal muscle.

scientific article published in July 1997

Rhabdomyolysis after group C streptococcal infection

scientific article published on August 2010

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

scientific article published on 18 December 2008

Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation

scientific article published on 28 August 2006

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

scientific article published on 26 April 2013

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

scientific article published on 06 January 2020

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

scientific article (publication date: 2014)

Spontaneous intracranial hypotension: Clinical and magnetic resonance imaging characteristics

scientific article published on 01 August 1997

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

scientific article

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

scientific article published on 4 May 2017

The epidemiology of pathogenic mitochondrial DNA mutations

scientific article published on 01 August 2000

The investigation of mitochondrial respiratory chain disease

scientific article published on 01 April 1995

The male phenotype in osteopathia striata congenita with cranial sclerosis

scientific article published on 01 October 2011

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

scientific article published on September 2017

The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase

scientific article

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

scientific article published on 25 April 2006

Thyrotoxic periodic paralysis--an unusual complication of hyperthyroidism

scientific article published in April 2002

Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature

scientific article

Tissue specific defect of complex I of the mitochondrial respiratory chain

scientific article published on 01 April 1989

Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation

scientific article published on 01 February 2007

UNILATERAL FACIAL PAIN IN PATIENTS WITH LUNG CANCER: A REFERRED PAIN VIA THE VAGUS?

scientific article published in The Lancet

Understanding the Epilepsy in POLG Related Disease

scientific article published on 24 August 2017

Unusual features in a boy with the rapsyn N88K mutation

scientific article published on 01 December 2006

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

[A man with progressive spastic paraparesis]

scientific article published on 01 November 2007

[Muscular diseases in the sun]

scientific article published on 01 July 2004

[The genetic basis of muscle disease]

scientific article published on 01 September 2003

mtDNA: Pathogenic or nonpathogenic sequence changes

scientific article published on February 1994

Økt behov for fysioterapeuter med nevromuskulær kompetanse

scientific article published on 17 September 2018

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