(Q34264417)

1 August 2017

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title

Human mitochondrial DNA diseases (English)

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1 August 2017

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Pulkes T

1

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1 August 2017

Hanna MG

series ordinal

2

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1 August 2017

language of work or name

English

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publication date

1 July 2001

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Advanced Drug Delivery Reviews

1 August 2017

published in

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1 August 2017

volume

49

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1 August 2017

issue

1-2

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1 August 2017

page(s)

27-43

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Maternal inheritance of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial inheritance in a mitochondrially mediated disease

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial DNA heteroplasmy in Drosophila mauritiana

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A tRNA suppressor mutation in human mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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)

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Infantile encephalopathy associated with the MELAS A3243G mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: a second case

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel mtDNA point mutation in maternally inherited cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Mitochondrial disorder associated with newborn cardiopulmonary arrest

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0169-409X%2801%2900124-7

7 January 2021

10.1016/S0169-409X(01)00124-7

Identifiers

DOI

1 reference

1 August 2017

1 reference