(Q33540911)

27 July 2017

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title

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype (English)

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27 July 2017

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John A. Morgan-Hughes

series ordinal

1

object named as

J A Morgan-Hughes

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27 July 2017

M G Hanna

2

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PubMed ID

10076022

27 July 2017

language of work or name

English

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publication date

1 February 1999

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Biochimica et Biophysica Acta

27 July 2017

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27 July 2017

1410

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27 July 2017

2

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27 July 2017

125-145

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Mitochondrial encephalomyopathies

27 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Molecular genetic aspects of human mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA mutations and pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Two-locus mitochondrial and nuclear gene models for mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The T-C(8356) mitochondrial DNA mutation in a Japanese family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Heavy traffic at a dual-purpose human mitochondrial tRNA gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

MELAS: clinical features, biochemistry, and molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA and RNA processing in MELAS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A new point mutation associated with mitochondrial encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Clinical, physiological, and histological features in a kindred with the T3271C melas mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mtDNA point mutation in maternally inherited cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial mutation in fatal infantile cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial disorder associated with newborn cardiopulmonary arrest

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A mitochondrial tRNA anticodon swap associated with a muscle disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial diabetes revisited

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Disorders of nuclear-mitochondrial intergenomic signalling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Late-onset mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

An autosomal locus predisposing to deletions of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Fatal infantile liver failure associated with mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Molecular mechanisms in mitochondrial DNA depletion syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Replication and Transcription of Vertebrate Mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

mtDNA mutations that cause optic neuropathy: how do we know?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Sequential damage in mitochondrial complexes by peroxidative stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Human mitochondria and mitochondrial genome function as a single dynamic cellular unit

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Diseases of the mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Mitochondrial DNA inheritance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Regulation of mitochondrial morphology and inheritance by Mdm10p, a protein of the mitochondrial outer membrane

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Duplications of mitochondrial DNA in mitochondrial myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900162-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0005-2728(98)00162-5

1 reference

27 July 2017

1 reference

PubMed ID

10076022