Mitochondrial DNA and Diseases of the Nervous System: The Spectrum

Mitochondrial DNA and human evolution

1987 • 2,967 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

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

1990 • 2,006 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

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

1990 • 1,456 citations

Aging, energy, and oxidative stress in neurodegenerative diseases

1995 • 1,453 citations

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

1989 • 1,009 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.

1992 • 633 citations

Origin and functional consequences of the complex I defect in Parkinson's disease

1996 • 629 citations

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1958 • 620 citations

INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS

1963 • 565 citations

A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA

1994 • 557 citations

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1988 • 509 citations

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

1990 • 456 citations

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

1993 • 449 citations

OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

1992 • 373 citations

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

1988 • 354 citations

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.

1992 • 336 citations

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

1990 • 311 citations

Cardiac Involvement in Mitochondrial Diseases

1995 • 306 citations

The development of mitochondrial medicine.

1994 • 296 citations

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

1993 • 259 citations

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

1997 • 247 citations

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1991 • 241 citations

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

1992 • 236 citations

Patterns of maternal transmission in bipolar affective disorder.

1995 • 216 citations

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

1989 • 212 citations

A preliminary 31P MRS study of autism: Evidence for undersynthesis and increased degradation of brain membranes

1993 • 184 citations

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

1994 • 181 citations

Enzymic Activities of Human Skeletal Muscle Mitochondria: A Tool in Clinical Metabolic Research

1959 • 174 citations

Leber's hereditary optic neuropathy and complex I deficiency in muscle

1991 • 161 citations

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

1993 • 160 citations

Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

1990 • 152 citations

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

1997 • 149 citations

Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects

1993 • 147 citations

Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in alzheimer's brains

1992 • 138 citations

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

1994 • 120 citations

A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy

1989 • 114 citations

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

1992 • 112 citations

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

1995 • 109 citations

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

1990 • 95 citations

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene

1997 • 95 citations

Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.

1996 • 92 citations

Mitochondrial myopathy with tRNA Leu(UUR) mutation and complex I deficiency responsive to riboflavin

1997 • 76 citations

Mitochondrial DNA and RNA processing in MELAS

1996 • 76 citations

Clinical syndromes associated with ragged red fibers.

1991 • 74 citations

Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNA^Trp gene

1997 • 71 citations

Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

1996 • 60 citations

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

1995 • 57 citations

Is a point mutation in the mitochondrial ND2 gene associated with alzheimer's disease?

1992 • 55 citations

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

1996 • 53 citations

Myoclonic Epilepsy with Ragged‐red Fibers (MERRF): An Immunohistochemical Study of the Brain

1995 • 33 citations

Mitochondrial DNA deletion in a girl with manifestations of Kearns‐Sayre and Lowe syndromes: An example of phenotypic mimicry?

1991 • 23 citations

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients

1995 • 16 citations