Recent developments in the molecular genetics of mitochondrial disorders

Chronic Parkinsonism in Humans Due to a Product of Meperidine-Analog Synthesis

1983 • 4,822 citations

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

1988 • 2,368 citations

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1988 • 1,806 citations

MITOCHONDRIAL COMPLEX I DEFICIENCY IN PARKINSON'S DISEASE

1989 • 1,717 citations

DISEASES OF THE MITOCHONDRIAL DNA

1992 • 1,294 citations

Classification of European mtDNAs From an Analysis of Three European Populations

1996 • 852 citations

Mitochondrial defect in Huntington's disease caudate nucleus

1996 • 737 citations

Deficiencies in Complex I subunits of the respiratory chain in Parkinson's disease

1989 • 735 citations

Anatomic and Disease Specificity of NADH CoQ₁ Reductase (Complex I) Deficiency in Parkinson's Disease

1990 • 676 citations

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

1996 • 629 citations

Electron transport chain defects in Alzheimer's disease brain

1994 • 483 citations

Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates.

1995 • 471 citations

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

1993 • 449 citations

Low platelet mitochondrial complex I and complex II/III activity in early untreated parkinson's disease

1995 • 430 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 • 426 citations

Age‐Dependent Vulnerability of the Striatum to the Mitochondrial Toxin 3‐Nitropropionic Acid

1993 • 360 citations

RETRACTED: Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

1997 • 345 citations

Oxidative stress and antioxidant therapy in Parkinson's disease

1996 • 342 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

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

1991 • 324 citations

Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?

1977 • 312 citations

Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

1994 • 307 citations

The possible role of iron in the etiopathology of parkinson's disease

1993 • 303 citations

Age‐Dependent Striatal Excitotoxic Lesions Produced by the Endogenous Mitochondrial Inhibitor Malonate

1993 • 303 citations

Ueber hereditäre und congenital-angelegte Sehnervenleiden

1871 • 260 citations

Diagnoses of neuronal ceroid‐lipofuscinosis by immunochemical methods

1995 • 255 citations

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

1995 • 252 citations

Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes

1993 • 221 citations

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

1997 • 219 citations

Leber's Hereditary Optic Neuropathy

1993 • 217 citations

Evidence for mitochondrial dysfunction in Parkinson's disease-a critical appraisal

1994 • 216 citations

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu(UUR) gene

1994 • 207 citations

Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease

1994 • 203 citations

DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

1989 • 201 citations

Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease

1994 • 201 citations

Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates

1995 • 190 citations

Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

1990 • 188 citations

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.

1995 • 188 citations

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

1996 • 186 citations

Altered mitochondrial function, iron metabolism and glutathione levels in Parkinson's disease

1993 • 163 citations

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

1993 • 157 citations

Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, With Special Reference to mtDNA Mutations

1997 • 156 citations

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

1995 • 154 citations

Use of Transmitochondrial Cybrids To Assign a Complex I Defect to the Mitochondrial DNA-Encoded NADH Dehydrogenase Subunit 6 Gene Mutation at Nucleotide Pair 14459 That Causes Leber Hereditary Optic Neuropathy and Dystonia

1996 • 148 citations

Point mutations of mitochondrial genome in Parkinson's disease

1995 • 147 citations

Increased risk of dementia in mothers of Alzheimer's disease cases

1996 • 143 citations

The Mitochondrial DNA Mutation at 8993 Associated with NARP Slows the Rate of ATP Synthesis in Isolated Lymphoblast Mitochondria

1993 • 143 citations

The mitochondrial DNA transfer RNA ^Leu(UUR) A→G(3243) mutation: A clinical and genetic study

1995 • 142 citations

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

1993 • 142 citations

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

1992 • 138 citations

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems

1995 • 132 citations

Mitochondrial diseases: genotype versus phenotype

1993 • 130 citations

Modelling the effects of age-related mtDNA mutation accumulation; Complex I deficiency, superoxide and cell death

1995 • 124 citations

A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap Syndrome

1995 • 117 citations

Evidence for Physiological Down-regulation of Brain Oxidative Phosphorylation in Alzheimer's Disease

1996 • 116 citations

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.

1995 • 110 citations

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

1995 • 109 citations

Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy.

1995 • 108 citations

Functional Alterations in Alzheimer's Disease: Selective Loss of Mitochondrial-encoded Cytochrome Oxidase mRNA in the Hippocampal Formation

1994 • 107 citations

A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS)

1994 • 101 citations

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

1996 • 99 citations

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

1993 • 98 citations

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

1995 • 96 citations

Wolfram (DIDMOAD) Syndrome and Leber Hereditary Optic Neuropathy (LHON) Are Associated with Distinct Mitochondrial DNA Haplotypes

1997 • 91 citations

Oxidative phosphorylation defects and Alzheimer's disease

1997 • 90 citations

Association of the mitochondrial tRNA^A4336G mutation with Alzheimer's and Parkinson's diseases

1997 • 90 citations

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1991 • 89 citations

Quantitation of a mitochondrial DNA deletion in Parkinson's disease

1992 • 87 citations

Impaired oxidative decarboxylation of pyruvate in fibroblasts from patients with Parkinson's disease

1994 • 83 citations

Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease

1993 • 82 citations

A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease

1997 • 81 citations

Accumulation of mtDNA with a Mutation at Position 3271 in tRNALeu(UUR) Gene Introduced from a Melas Patient to HeLa Cells Lacking mtDNA Results in Progressive Inhibition of Mitochondrial Respiratory Function

1993 • 80 citations

Pre-excitation syndrome in Leber's hereditary optic neuropathy

1994 • 79 citations

Mitochondrial Disorders in Neurology

1994 • 79 citations

Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle

1995 • 79 citations

Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?

1994 • 77 citations

The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan.

1994 • 77 citations

Relationship of Genotype to Phenotype in Fibroblast-derived Transmitochondrial Cell Lines Carrying the 3243 Mutation Associated with the Melas Encephalomyopathy: Shift towards Mutant Genotype and Role of mtDNA Copy Number

1996 • 77 citations

Mitochondrial DNA and RNA processing in MELAS

1996 • 76 citations

A case-control study of Leber's hereditary optic neuropathy

1996 • 73 citations

The Alzheimer diseases

1996 • 72 citations

Ocular Clinicopathologic Study of the Mitochondrial Encephalomyopathy Overlap Syndromes

1993 • 70 citations

Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNA ^Leu(UUR) gene

1995 • 68 citations

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1996 • 67 citations

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

1994 • 66 citations

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

1996 • 63 citations

Altered oxidation and signal transduction systems in fibroblasts from Alzheimer patients

1996 • 62 citations

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

1996 • 62 citations

The Significance of Glucose Turnover in the Brain in the Pathogenetic Mechanisms of Alzheimer's Disease

1996 • 61 citations

Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

1996 • 60 citations

Altered mitochondrial membrane fluidity in AD brain

1996 • 55 citations

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

1993 • 53 citations

Mitochondrial enzyme deficiencies in Down's syndrome

1994 • 53 citations

Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients

1996 • 51 citations

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

1995 • 51 citations

Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease

1993 • 50 citations

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.

1996 • 50 citations

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

1994 • 50 citations

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

1996 • 49 citations

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

1996 • 49 citations

A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue

1993 • 49 citations

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

1995 • 49 citations

Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body Parkinsonism

1996 • 47 citations

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

1995 • 47 citations

Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A comparative study

1993 • 46 citations

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

1996 • 46 citations

A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

1994 • 45 citations

No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant

1995 • 44 citations

No Association of Mutations at Nucleotide 5460 of Mitochondrial NADH Dehydrogenase with Alzheimer′s Disease

1994 • 43 citations

Demyelinating polyneuropathy in a patient with the tRNA ^Leu (uur) mutation at base pair 3243 of the mitochondrial DNA

1995 • 41 citations

Tissue distribution and disease manifestations of the tRNALys A�G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1995 • 41 citations

Regional heterogeneity of mtDNA heteroplasmy in parkinsonian brain.

1996 • 41 citations

The Apolipoprotein E ϵ4 Allele in Parkinson's Disease with Alzheimer Lesions

1996 • 41 citations

The Syndrome of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Presenting Without Stroke

1993 • 41 citations

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

1996 • 41 citations

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

1995 • 40 citations

Accumulation of Somatic Nucleotide Substitutions in Mitochondrial DNA Associated with the 3243 A-to-G tRNALeu(UUR)Mutation in Encephalomyopathy and Cardiomyopathy

1996 • 39 citations

No evidence for altered muscle mitochondrial function in Parkinson's disease.

1993 • 38 citations

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

1996 • 37 citations

Effects of isoquinoline derivatives structurally related to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on mitochondrial respiration

1996 • 37 citations

A specific point mutation in the mitochondrial genome of Caucasians with MELAS

1991 • 36 citations

No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

1996 • 35 citations

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

1995 • 34 citations

Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases

1995 • 34 citations

A MERRF/PEO overlap syndrome associated with the mitochondria1 DNA 3243 mutation

1996 • 33 citations

The 3243 MELAS Mutation in a Pedigree with MERRF

1995 • 32 citations

Mitochondrial myopathies: clinical features, investigation, treatment and genetic counselling

1994 • 32 citations

The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings

1995 • 31 citations

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

1995 • 31 citations

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies

2009 • 30 citations

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.

1996 • 27 citations

A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

1994 • 26 citations

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

1996 • 25 citations

Uniform tissue distribution of tRNA^Lys mutation in mitochondrial DNA in MERRF patients

1993 • 25 citations

Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

1996 • 23 citations

The ‘common deletion’ is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction

1997 • 23 citations

Leber's hereditary optic neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation

1995 • 23 citations

mtDNA mutations in Leber's hereditary optic neuropathy

1995 • 23 citations

Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

1996 • 22 citations

Mitochondrial DNA and the genetics of mitochondrial disease

1994 • 21 citations

Mitochondrial DNA polymorphism in substantia nigra

1996 • 21 citations

Absence of the Mitochondrial A7237T Mutation in Parkinson′s Disease

1995 • 20 citations

Investigations on the Point Mutations at nt 5460 of the mtDNA in Different Neurodegenerative and Neuromuscular Diseases

1996 • 18 citations

EARLY RETINAL INVOLVEMENT IN MITOCHONDRIAL MYOPATHY WITH MITOCHONDRIAL DNA DELETION

1994 • 17 citations

Myo-leukoencephalopathy in twins: Study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation

1994 • 17 citations

Sporadic Leber hereditary optic neuropathy in Australia and New Zealand

1996 • 17 citations

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

1995 • 16 citations

Mitochondrial enzyme deficiencies in Downs Syndrome

1994 • 11 citations

Lack of evidence for maternal effect in familial Alzheimer's disease

1993 • 9 citations

Association of Deletion and Homoplasmic Point Mutation of the Mitochondrial DNA in an Ocular Myopathy

1994 • 9 citations

Ocular myopathy and mitochondrial DNA deletion. A presentation of seven identified Danish patients.

1996 • 4 citations

Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.

1995 • 2 citations

Ocular myopathy and mitochondrial DNA deletion

1996 • 2 citations

Deleted Work

1955 • 0 citations