Lista de obras -

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

scientific article published on 01 January 1993

A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein

artículo científico publicado en 1990

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

artículo científico publicado en 1977

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity ⬇️

artículo científico publicado el 1 de septiembre de 1979

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies ⬇️

artículo científico publicado el 1 de abril de 1992

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

scientific article published on 01 March 1995

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

artículo científico publicado en 1990

A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain ⬇️

artículo científico publicado el 1 de diciembre de 1984

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

scientific article published on 01 October 2000

A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings

artículo científico publicado en 1997

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

artículo científico publicado en 1993

Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)

scientific article published on 01 March 1995

Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect

scientific article published on 01 June 1981

An animal model of mitochondrial myopathy: a biochemical and physiological investigation of rats treated in vivo with the NADH-CoQ reductase inhibitor, diphenyleneiodonium

scientific article published on 01 February 1988

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

artículo científico publicado en 1990

Chronic administration of the oral hypoglycaemic agent diphenyleneiodonium to rats. An animal model of impaired oxidative phosphorylation (mitochondrial myopathy).

artículo científico publicado en 1988

Chronic demyelinating peripheral neuropathy associated with multifocal central nervous system demyelination

scientific article published on 01 February 1987

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

artículo científico publicado en 1995

Congenital myasthenia: further evidence of disease heterogeneity

artículo científico publicado en 1986

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

artículo científico publicado en 1998

Deletions of muscle mitochondrial DNA

artículo científico publicado en 1988

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

artículo científico publicado en 1989

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

artículo científico publicado en 1988

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

artículo científico publicado en 1992

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium

artículo científico publicado en 1985

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol

artículo científico publicado en 1985

Fifty year follow-up of a patient with central core disease shows slow but definite progression ⬇️

artículo científico publicado el 1 de agosto de 1998

Human mitochondrial respiratory chain deficiencies

artículo científico publicado en 1988

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

artículo científico publicado en 1995

Intercostal muscle acetylcholine receptors in longstanding ocular myasthenia ⬇️

artículo científico publicado el 13 de diciembre de 1980

Isozyme patterns and protein profiles in neuromuscular disorders ⬇️

artículo científico publicado el 1 de junio de 1982

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

scientific article published on 01 July 1995

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy ⬇️

artículo científico publicado el 1 de septiembre de 1992

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

artículo científico publicado en 1998

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

artículo científico publicado en 1995

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

artículo científico publicado en 1994

Mitochondrial DNA polymorphism in mitochondrial myopathy

artículo científico publicado en 1988

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

scientific article published on 01 July 1993

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain

artículo científico publicado en 1982

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

artículo científico publicado en 1999

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples ⬇️

artículo científico publicado el 1 de junio de 1991

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

scientific article published on 01 November 1996

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

scientific article published on 01 December 1989

Mitochondrial myopathies: clinical defects

artículo científico publicado en 1990

Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle

artículo científico publicado en 1983

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain

artículo científico publicado en 1985

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

artículo científico publicado en 1984

Mitochondrial myopathies: genetic defects

artículo científico

Mitochondrial myopathy with a defect of mitochondrial-protein transport

scientific article published on 01 July 1990

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

scientific article published on 01 April 1981

Mitochondrial myopathy: a genetic study of 71 cases

artículo científico publicado en 1988

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency

artículo científico publicado en 1988

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

artículo científico publicado en 1988

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

artículo científico publicado en 1990

Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

artículo científico publicado en 1982

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

artículo científico publicado en 2005

One-step immunoaffinity purification of complex I subunits from beef heart mitochondria

artículo científico publicado en 1992

Prolonged aerobic exercise: physiological studies in rat gastrocnemius with additional observations on the effects of acute mitochondrial blockade

artículo científico publicado en 1989

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

artículo científico publicado en 1998

The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies ⬇️

artículo científico publicado el 1 de febrero de 1992

The cerebral metabolism of glucose and oxygen measured with positron tomography in patients with mitochondrial diseases

article published in 1988

The clinical features of mitochondrial myopathy

artículo científico publicado en 1986

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

article

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

artículo científico publicado en 1993

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

scientific article published on 01 June 1995

The mitochondrial myopathies. Defects of the mitochondrial respiratory chain and oxidative phosphorylation system

artículo científico publicado en 1987

The molecular pathology of human respiratory chain defects

artículo científico publicado en 1991

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

artículo científico publicado en 1990

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

Treatment of experimental NADH ubiquinone reductase deficiency with menadione

artículo científico publicado el 1 de agosto de 1992

X-linked recessive bulbospinal neuronopathy: a report of ten cases

artículo científico publicado en 1982

Lista de obras de

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity ⬇️

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies ⬇️

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain ⬇️

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)

Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect

An animal model of mitochondrial myopathy: a biochemical and physiological investigation of rats treated in vivo with the NADH-CoQ reductase inhibitor, diphenyleneiodonium

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

Chronic administration of the oral hypoglycaemic agent diphenyleneiodonium to rats. An animal model of impaired oxidative phosphorylation (mitochondrial myopathy).

Chronic demyelinating peripheral neuropathy associated with multifocal central nervous system demyelination

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

Congenital myasthenia: further evidence of disease heterogeneity

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Deletions of muscle mitochondrial DNA

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol

Fifty year follow-up of a patient with central core disease shows slow but definite progression ⬇️

Human mitochondrial respiratory chain deficiencies

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

Intercostal muscle acetylcholine receptors in longstanding ocular myasthenia ⬇️

Isozyme patterns and protein profiles in neuromuscular disorders ⬇️

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy ⬇️

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

Mitochondrial DNA polymorphism in mitochondrial myopathy

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples ⬇️

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

Mitochondrial myopathies: clinical defects

Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

Mitochondrial myopathies: genetic defects

Mitochondrial myopathy with a defect of mitochondrial-protein transport

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

Mitochondrial myopathy: a genetic study of 71 cases

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

One-step immunoaffinity purification of complex I subunits from beef heart mitochondria

Prolonged aerobic exercise: physiological studies in rat gastrocnemius with additional observations on the effects of acute mitochondrial blockade

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies ⬇️

The cerebral metabolism of glucose and oxygen measured with positron tomography in patients with mitochondrial diseases

The clinical features of mitochondrial myopathy

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

The mitochondrial myopathies. Defects of the mitochondrial respiratory chain and oxidative phosphorylation system

The molecular pathology of human respiratory chain defects

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

Treatment of experimental NADH ubiquinone reductase deficiency with menadione

X-linked recessive bulbospinal neuronopathy: a report of ten cases