List of works - Antoon Janssen

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

scientific article published in February 1986

A new radiochemical assay for fructose-1,6-diphosphatase in human leucocytes

scientific article published on 01 February 1982

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

scientific article published on 23 January 2009

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

scientific article published on 22 October 2007

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

scientific article published on 01 January 1996

Biochemical studies in the liver and muscle of patients with Zellweger syndrome.

scientific article published in June 1983

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

scientific article published on 01 April 2006

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

scientific article published on 01 August 2000

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

scientific article

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

scientific article

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

scientific article published on 01 January 1984

Demyelination and disturbed metabolism of pyruvate: a case report

scientific article published on 01 April 1983

Differential investigation of the capacity of succinate oxidation in human skeletal muscle

scientific article published on 01 November 1985

Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid

scientific article published on 01 January 1981

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

scientific article

Experimental intrauterine growth retardation in the rat. Evaluation of the Wigglesworth model

scientific article published on 01 September 1979

Gluconeogenic key enzymes in normal and intrauterine growth-retarded newborn rats ⬇️

scientific article published on December 1, 1979

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

scientific article published on 31 December 2009

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

scientific article published in May 2012

In vivo induced malignant hyperthermia in pigs. II. Metabolism of skeletal muscle mitochondria

scientific article published on 01 February 1984

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

scientific article published in January 1985

L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy

scientific article published on 01 June 1981

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

scientific article published on 01 July 1996

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

scientific article published on June 1, 1978

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

scientific article published on 16 March 2006

Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay

scientific article published on 01 January 1993

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients

scientific article published on 22 January 2011

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

article

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

scientific article published on 01 January 1989

Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies

scientific article published on 01 March 1995

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

scientific article

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

scientific article published in May 2002

Normal carnitine levels in patients with chronic fatigue syndrome

scientific article published on 01 July 2000

Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi

scientific article published on 01 October 1988

Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

scientific article published in May 1982

Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia

scientific article published on 01 August 1984

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

scientific article published in May 1998

Pyruvate metabolism in Lafora disease

scientific article published on 01 May 1989

Pyruvate oxidation in rat and human skeletal muscle mitochondria

scientific article published on December 1, 1978

Reconstitution of malate-aspartate and α-glycerophosphate shuttle activity in rat skeletal muscle mitochondria ⬇️

scientific article published on January 1, 1979

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

scientific article published on 01 March 2007

Tall stature and progressive overweight in mitochondrial encephalopathy

scientific article published on 01 January 2003

The effect of exogenous cytochrome c on pyruvate oxidation by rat skeletal muscle mitochondria isolated in sucrose or KCl medium ⬇️

scientific article published on December 1, 1978

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

scientific article published on 01 February 2006

The use of chorionic villi in prenatal diagnosis of mitochondriopathies

scientific article published on 01 January 1992

List of works by Antoon Janssen

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

A new radiochemical assay for fructose-1,6-diphosphatase in human leucocytes

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

Biochemical studies in the liver and muscle of patients with Zellweger syndrome.

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

Demyelination and disturbed metabolism of pyruvate: a case report

Differential investigation of the capacity of succinate oxidation in human skeletal muscle

Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

Experimental intrauterine growth retardation in the rat. Evaluation of the Wigglesworth model

Gluconeogenic key enzymes in normal and intrauterine growth-retarded newborn rats ⬇️

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

In vivo induced malignant hyperthermia in pigs. II. Metabolism of skeletal muscle mitochondria

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

Normal carnitine levels in patients with chronic fatigue syndrome

Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi

Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

Pyruvate metabolism in Lafora disease

Pyruvate oxidation in rat and human skeletal muscle mitochondria

Reconstitution of malate-aspartate and α-glycerophosphate shuttle activity in rat skeletal muscle mitochondria ⬇️

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Tall stature and progressive overweight in mitochondrial encephalopathy

The effect of exogenous cytochrome c on pyruvate oxidation by rat skeletal muscle mitochondria isolated in sucrose or KCl medium ⬇️

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

The use of chorionic villi in prenatal diagnosis of mitochondriopathies