List of works - Laurence Bindoff

Correlation between genetic and geographic structure in Europe

scientific article

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

scientific article published on 3 August 2011

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

scientific article

The epidemiology of pathogenic mitochondrial DNA mutations

scientific article published on 01 August 2000

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

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

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

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

scientific article published in April 2005

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

scientific article published in August 1991

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

scientific article published on 02 July 2013

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

scientific article

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

scientific article published on 14 December 2008

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

MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE

scientific article published in The Lancet

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

scientific article

Reversal of a mitochondrial DNA defect in human skeletal muscle

scientific article published in July 1997

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

scientific article published in September 1992

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

scientific article

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

scientific article published on April 1995

Combined enzyme defect of mitochondrial fatty acid oxidation

scientific article (publication date: October 1992)

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

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

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

scientific article

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

scientific article

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

scientific article published in July 1996

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

scientific article (publication date: 15 September 2003)

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

scientific article published in August 1999

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

scientific article

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

scientific article

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

scientific article published in Journal of Biological Chemistry

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Mitochondrial diseases and epilepsy

scientific article published on September 2012

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

scientific article

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

scientific article published on 16 April 2010

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

scientific article published on 26 April 2013

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

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Molecular pathogenesis of polymerase γ-related neurodegeneration

scientific article published on 14 June 2014

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

scientific article

Nonrandom tissue distribution of mutant mtDNA

scientific article published on 01 August 1999

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

scientific article published on 01 February 1996

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

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

scientific article published in June 1992

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

article

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

scientific article published on 01 January 1993

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

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

scientific article published on 18 October 2010

List of works by Laurence Bindoff

Correlation between genetic and geographic structure in Europe

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

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

The epidemiology of pathogenic mitochondrial DNA mutations

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

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

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

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

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

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

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

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

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

MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

Reversal of a mitochondrial DNA defect in human skeletal muscle

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

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

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

Combined enzyme defect of mitochondrial fatty acid oxidation

Risk of developing a mitochondrial DNA deletion disorder

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

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

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

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

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

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

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

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

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

Phenotype modulators in myophosphorylase deficiency

Mitochondrial diseases and epilepsy

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

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

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

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

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

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

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

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

Molecular pathogenesis of polymerase γ-related neurodegeneration

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

Nonrandom tissue distribution of mutant mtDNA

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

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

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

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

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

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

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