A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

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

1990 • 2,006 citations

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

1990 • 1,456 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 730 citations

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1983 • 662 citations

MELAS: Clinical features, biochemistry, and molecular genetics

1992 • 503 citations

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.

1992 • 490 citations

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

1991 • 384 citations

A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

1990 • 361 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 354 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

1992 • 330 citations

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

1991 • 324 citations

Compilation of tRNA sequences and sequences of tRNA genes

1989 • 275 citations

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

1992 • 240 citations

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

1992 • 236 citations

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

1993 • 232 citations

Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)

1993 • 203 citations

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1991 • 182 citations

Mitochondrial tRNAlle mutation in fatal cardiomyopathy

1992 • 167 citations

A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA^Lys Gene

1993 • 157 citations

Nucleotide sequence of both reciprocal translocation junction regions in a patient with Ph positive acute lymphoblastic leukaemia, with a breakpoint within the first intron of theBCRgene

1989 • 138 citations

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

1991 • 125 citations

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

1993 • 117 citations

Differential diagnosis of fatal and benign cytochrome c oxidase‐deficient myopathies of infancy

1991 • 98 citations

Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes

1991 • 87 citations

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

1991 • 85 citations

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV

1989 • 75 citations

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

1982 • 75 citations

Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency

1986 • 74 citations

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1991 • 72 citations

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

1984 • 63 citations

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

1992 • 57 citations

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1991 • 57 citations

Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

1991 • 40 citations

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

1989 • 39 citations

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

1991 • 31 citations

Mitochondrial myopathy and cardiomyopathy in siblings

1989 • 18 citations

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency

1993 • 11 citations