(Q40697792)

22 September 2017

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title

Mitochondrial encephalomyopathies: clinical and molecular analysis (English)

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22 September 2017

E A Schon

1

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22 September 2017

M Hirano

series ordinal

2

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22 September 2017

S DiMauro

series ordinal

3

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22 September 2017

publication date

1 June 1994

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Journal of Bioenergetics and Biomembranes

22 September 2017

published in

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22 September 2017

volume

26

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22 September 2017

issue

3

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22 September 2017

page(s)

291-299

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Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation

22 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FBF00763100

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

21 January 2018

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12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study

1 reference

12 December 2020

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

12 December 2020

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

1 reference

12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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12 December 2020

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

12 December 2020

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

1 reference

12 December 2020

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

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12 December 2020

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

1 reference

12 December 2020

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

1 reference

12 December 2020

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1 reference

12 December 2020

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

1 reference

12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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12 December 2020

Maternally inherited Leigh syndrome.

1 reference

12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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12 December 2020

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome

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12 December 2020

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

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12 December 2020

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

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12 December 2020

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

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12 December 2020

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

12 December 2020

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

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12 December 2020

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

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12 December 2020

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

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12 December 2020

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

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12 December 2020

Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

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12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

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12 December 2020

Cytochrome b mutations in Leber hereditary optic neuropathy

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

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12 December 2020

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

12 December 2020

Maternal inheritance of human mitochondrial DNA

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12 December 2020

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

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12 December 2020

Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus

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12 December 2020

An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

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

1 reference

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

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

A mitochondrial tRNA anticodon swap associated with a muscle disease

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12 December 2020

Leber's hereditary optic neuropathy and complex I deficiency in muscle

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12 December 2020

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

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12 December 2020

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

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12 December 2020

Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell

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12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

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12 December 2020

Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy

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12 December 2020

Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia

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12 December 2020

Diseases of the mitochondrial DNA.

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12 December 2020

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

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12 December 2020

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

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12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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12 December 2020

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

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12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

12 December 2020

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

1 reference

12 December 2020

Mitochondrial leucine tRNA mutation in neurological diseases

1 reference

12 December 2020

The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.

1 reference

12 December 2020

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

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12 December 2020

MELAS: clinical features, biochemistry, and molecular genetics

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12 December 2020

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

1 reference

12 December 2020

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

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12 December 2020

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

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12 December 2020

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

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12 December 2020

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

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12 December 2020

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

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12 December 2020

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

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12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

12 December 2020

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

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12 December 2020

A new point mutation associated with mitochondrial encephalomyopathy

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12 December 2020

Studies on the inhibition of mitochondrial DNA replication by 3'-azido-3'-deoxythymidine and other dideoxynucleoside analogs which inhibit HIV-1 replication

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12 December 2020

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

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12 December 2020

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

12 December 2020

Melas: an original case and clinical criteria for diagnosis

1 reference

12 December 2020

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

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12 December 2020

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

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12 December 2020

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

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12 December 2020

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

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12 December 2020

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

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12 December 2020

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

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12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

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12 December 2020

Mitochondrial myopathy caused by long-term zidovudine therapy

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12 December 2020

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00763100

1 reference

22 September 2017

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