Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

Maternal inheritance of human mitochondrial DNA.

1980 • 1,327 citations

A CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDY

1962 • 943 citations

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

1992 • 612 citations

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

1990 • 456 citations

DIABETES MELLITUS AND SIMPLE OPTIC ATROPHY AMONG SIBLINGS: REPORT OF FOUR CASES

1938 • 338 citations

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

1990 • 324 citations

Growth Hormone Neurosecretory Dysfunction

1984 • 264 citations

Specific DNA amplification

1988 • 262 citations

Mitochondrial DNA mutations and neuromuscular disease

1989 • 216 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

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

1992 • 157 citations

Clinical aspects of mitochondrial disorders

1992 • 151 citations

Thiamine-responsive anemia in DIDMOAD syndrome

1989 • 99 citations

Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

1991 • 81 citations

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle

1990 • 65 citations

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

1991 • 61 citations

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD Syndrome): A Clinical Study in Two Sudanese Families

1991 • 22 citations

A MITOCHONDRIAL ENCEPHALOMYOPATHY WITH SPECIFIC DEFICIENCIES OF TWO RESPIRATORY CHAIN POLYPEPTIDES AND A CIRCULATING AUTOANTIBODY TO A MITOCHONDRIAL MATRIX PROTEIN

1990 • 22 citations

Insulin biosynthesis and secretion in vitro

1992 • 13 citations

Short Communication

1982 • 1 citations