Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

Muscle Biopsy: A Practical Approach

2020 • 1,357 citations

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

1989 • 1,009 citations

The Metabolic Basis of Inherited Disease

1983 • 757 citations

Hyperplasia of the Juxtaglomerular Complex with Hyperaldosteronism and Hypokalemic Alkalosis.

1963 • 742 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 730 citations

Mitochondrial myopathies

1985 • 682 citations

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1958 • 620 citations

Muscle Biopsy: A Practical Approach

1986 • 556 citations

VISUALIZATION OF PEROXISOMES (MICROBODIES) AND MITOCHONDRIA WITH DIAMINOBENZIDINE

1969 • 542 citations

Renal ischemia: A new perspective

1984 • 459 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 354 citations

Renal and Electrolyte Disorders.

1986 • 234 citations

Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of henle as a proximal cause of Bartter's syndrome

1978 • 220 citations

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency

1980 • 203 citations

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia

1983 • 181 citations

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

1977 • 177 citations

Mitochondrial DNA polymorphism in Japanese

1986 • 160 citations

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.

1981 • 135 citations

The Kearns-Shy syndrome

1973 • 129 citations

The pathogenetic spectrum of Bartter's syndrome

1985 • 125 citations

Hypercalciuria in Children With Urolithiasis

1982 • 98 citations

Progressive cytochrome c oxidase deficiency in a case of earns‐sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

1987 • 95 citations

Mitochondrial DNA polymorphism in Japanese

1984 • 93 citations

Studies on Cytochrome a: XV. Cytochrome Oxidase Activity of the Okunuki Preparation and Its Activation by Heat, Alkali and Detergent Treatments*

1965 • 92 citations

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine

1982 • 88 citations

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome

1967 • 86 citations

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia

1983 • 83 citations

Cytochrome‐ c ‐oxidase deficiency in a floppy infant

1982 • 83 citations

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

1985 • 80 citations

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1983 • 67 citations

[88] Microsomal DPNH-cytochrome c reductase

1967 • 53 citations

A New Mitochondrial Myopathy in a Patient With Salt Craving

1970 • 52 citations

de Toni-Fanconi-Debré syndrome with leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1988 • 52 citations

Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers

1988 • 49 citations

Microsomal DPNH cytochrome C reductase

1958 • 44 citations

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

1988 • 41 citations

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debr� syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1988 • 40 citations

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

1985 • 39 citations

The Congenital ‘Magnesium-Losing Kidney’

1981 • 36 citations

Muscle pathology in cytochromec oxidase deficiency

1988 • 35 citations

Bartter’s Syndrome Due to a Defect in Salt Reabsorption in the Distal Convoluted Tubule

1985 • 33 citations

Mitochondria1 encephalomyopathy and partial cytochrome c oxidase deficiency

1987 • 32 citations

Neurodegenerative disorders and hyperaldosteronism

1971 • 28 citations

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome

1986 • 18 citations

Abnormal Mitochondria on a Renal Biopsy from a Case of Mitochondrial Myopathy

1985 • 15 citations