(Q35685889)

English

Mitochondriopathies

scientific article published on March 2004

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 August 2017

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Europe PubMed Central

Mitochondriopathies. (English)

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Europe PubMed Central

PubMed publication ID

9 August 2017

author name string

J Finsterer

1

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Europe PubMed Central

PubMed publication ID

9 August 2017

publication date

1 March 2004

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Europe PubMed Central

PubMed publication ID

9 August 2017

European Journal of Neurology

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Europe PubMed Central

PubMed publication ID

9 August 2017

11

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Europe PubMed Central

PubMed publication ID

9 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

163-186

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Cytopathies involving mitochondrial complex II.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Import of proteins into mitochondria: a novel pathomechanism for progressive neurodegeneration

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Morphological correlates of mitochondrial dysfunction in children

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial respiratory-chain diseases

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Phenotype variability in 130 adult patients with respiratory chain disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Respiratory chain complex-I defect mimicking myasthenia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Composition and dynamics of human mitochondrial nucleoids

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The C66W Mutation in the Deafness Dystonia Peptide 1 (DDP1) Affects the Formation of Functional DDP1⋅TIM13 Complexes in the Mitochondrial Intermembrane Space

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The neurology of mitochondrial DNA disease.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Chronic corticosteroid administration causes mitochondrial dysfunction in skeletal muscle

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Neurogenesis and apoptotic cell death.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial dysfunction and neuromuscular disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

MNGIE: from nuclear DNA to mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The role of the TIM8-13 complex in the import of Tim23 into mitochondria

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mutation screening in patients with isolated cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

The "new" mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial myopathies and encephalomyopathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Paternal inheritance of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Do oxidatively modified proteins cause ALS?

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1351-5101.2003.00728.X

21 January 2018

Identifiers

10.1046/J.1351-5101.2003.00728.X

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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