(Q37322156)

19 August 2017

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title

Mitochondrial dysfunction in neurodegenerative diseases. (English)

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19 August 2017

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1

Anthony H V Schapira

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19 August 2017

8 November 2008

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19 August 2017

Neurochemical Research

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19 August 2017

33

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19 August 2017

12

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19 August 2017

2502-2509

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https://scigraph.springernature.com/pub.10.1007/s11064-008-9855-x

19 August 2017

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

21 January 2018

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Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study

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12 December 2020

Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).

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12 December 2020

Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.

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12 December 2020

Parkin enhances mitochondrial biogenesis in proliferating cells

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12 December 2020

Biochemical abnormalities and excitotoxicity in Huntington's disease brain.

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12 December 2020

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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12 December 2020

Mitochondrial involvement in Parkinson's disease

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12 December 2020

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

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12 December 2020

Novel pharmacological targets for the treatment of Parkinson's disease

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12 December 2020

Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease

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12 December 2020

Mitochondrial dysfunction and free radical damage in the Huntington R6/2 transgenic mouse.

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12 December 2020

Liver failure associated with mitochondrial DNA depletion

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12 December 2020

L-dihydroxyphenylalanine and complex I deficiency in Parkinson's disease brain

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12 December 2020

Cone and rod dysfunction in the NARP syndrome

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12 December 2020

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

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12 December 2020

Genetic heterogeneity in Leigh syndrome.

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12 December 2020

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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12 December 2020

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

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12 December 2020

Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice

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12 December 2020

Mitochondrial disease in superoxide dismutase 2 mutant mice

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12 December 2020

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

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12 December 2020

Identification of three novel frameshift mutations in patients with Friedreich's ataxia

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12 December 2020

Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome

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12 December 2020

Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

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12 December 2020

Maternally inherited Leigh syndrome.

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12 December 2020

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

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12 December 2020

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

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12 December 2020

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

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12 December 2020

Mitochondrial dysfunction in Parkinson's disease

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12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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12 December 2020

The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosis

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12 December 2020

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

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12 December 2020

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

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12 December 2020

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

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12 December 2020

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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12 December 2020

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

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12 December 2020

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

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Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

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12 December 2020

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

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12 December 2020

Mitochondrial function and parental sex effect in Huntington's disease

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12 December 2020

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

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12 December 2020

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

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12 December 2020

Mitochondrial disease

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12 December 2020

A 31P magnetic resonance spectroscopy study of mitochondrial function in skeletal muscle of patients with Parkinson's disease

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12 December 2020

Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group

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12 December 2020

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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12 December 2020

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

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12 December 2020

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

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12 December 2020

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

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12 December 2020

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

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12 December 2020

Origin and functional consequences of the complex I defect in Parkinson's disease

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12 December 2020

Complex I, iron, and ferritin in Parkinson's disease substantia nigra

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12 December 2020

Quantitative analysis by 31P magnetic resonance spectroscopy of abnormal mitochondrial oxidation in skeletal muscle during recovery from exercise

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12 December 2020

The "new" mitochondrial disorders

1 reference

12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

Brain metabolism in mitochondrial encephalomyopathy: a PET study

1 reference

12 December 2020

Friedreich's ataxia: coenzyme Q10 and vitamin E therapy

1 reference

12 December 2020

Myopathy in vitamin E deficient rats: muscle fibre necrosis associated with disturbances of mitochondrial function

1 reference

12 December 2020

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

12 December 2020

Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease).

1 reference

12 December 2020

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

1 reference

12 December 2020

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

1 reference

12 December 2020

Mitochondrial respiratory chain function in multiple system atrophy

1 reference

12 December 2020

The mechanism of ATP synthase: a reassessment of the functions of the b and a subunits

1 reference

12 December 2020

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family

1 reference

12 December 2020

Quantitation of a mitochondrial DNA deletion in Parkinson's disease

1 reference

12 December 2020

Evidence for mitochondrial dysfunction in Parkinson's disease--a critical appraisal

1 reference

12 December 2020

Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients

1 reference

12 December 2020

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

12 December 2020

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

1 reference

12 December 2020

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

1 reference

12 December 2020

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

1 reference

12 December 2020

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

1 reference

12 December 2020

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

1 reference

12 December 2020

Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

1 reference

12 December 2020

Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin

1 reference

12 December 2020

Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration.

1 reference

12 December 2020

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.

1 reference

12 December 2020

Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency

1 reference

12 December 2020

Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway.

1 reference

12 December 2020

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

12 December 2020

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

1 reference

12 December 2020

Sustained efficacy and safety of idebenone in the treatment of Alzheimer's disease: update on a 2-year double-blind multicentre study

1 reference

12 December 2020

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

12 December 2020

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

1 reference

12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormalities of the electron transport chain in idiopathic Parkinson's disease

1 reference

12 December 2020

Mitochondrial complex I deficiency in Parkinson's disease

1 reference

12 December 2020

Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis

1 reference

12 December 2020

Antioxidant properties of 2,3-dimethoxy-5-methyl-6-(10-hydroxydecyl)-1,4-benzoquinone (idebenone).

1 reference

12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

12 December 2020

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

1 reference

12 December 2020

A controlled trial of idebenone in Huntington's disease

1 reference

12 December 2020

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

1 reference

12 December 2020

10.1007/S11064-008-9855-X

Identifiers

DOI

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19 August 2017

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PubMed ID

18998208