Mitochondria in neuromuscular disorders

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The Release of Cytochrome c from Mitochondria: A Primary Site for Bcl-2 Regulation of Apoptosis

1997 • 4,728 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

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1990 • 1,390 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

Mitochondrial Myopathy Caused by Long-Term Zidovudine Therapy

1990 • 845 citations

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1995 • 711 citations

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1989 • 637 citations

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

1991 • 588 citations

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

1997 • 554 citations

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1991 • 511 citations

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

1992 • 476 citations

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

1990 • 456 citations

Mitochondrial DNA mutations and pathogenesis.

1997 • 427 citations

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

1994 • 403 citations

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.

1989 • 363 citations

The Molecular and Genetic Basis of Neurological Disease

1993 • 345 citations

Mitochondrial carrier proteins

1994 • 337 citations

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

1990 • 311 citations

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial eneephalomyopathy

1987 • 301 citations

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

1993 • 259 citations

Diagnoses of neuronal ceroid‐lipofuscinosis by immunochemical methods

1995 • 255 citations

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

1991 • 241 citations

An autosomal locus predisposing to deletions of mitochondrial DNA

1995 • 240 citations

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1983 • 231 citations

Low Levels of Mitochondrial Transcription Factor A in Mitochondrial DNA Depletion

1994 • 223 citations

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

1989 • 212 citations

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

1980 • 203 citations

Mitochondrial encephalomyopathy with coenzyme Q ₁₀ deficiency

1997 • 196 citations

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

1996 • 193 citations

A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

1992 • 183 citations

Strongly succinate dehydrogenase–reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes

1991 • 182 citations

Protein sorting in mitochondria

1992 • 174 citations

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

1997 • 170 citations

Distinction of apoptotic and necrotic cell death by in situ labelling of fragmented DNA

1994 • 158 citations

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

1992 • 157 citations

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

1995 • 154 citations

Isolation of a cDNA encoding the human homolog of COX17 , a yeast gene essential for mitochondrial copper recruitment

1997 • 153 citations

d-Cycloserine enhances implicit memory in Alzheimer patients

1996 • 150 citations

Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects

1993 • 147 citations

Clinical manifestations of mitochondria1 DNA depletion

1998 • 126 citations

Coordinated Induction of the Ubiquitin Conjugation Pathway Accompanies the Developmentally Programmed Death of Insect Skeletal Muscle

1995 • 124 citations

Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

1995 • 121 citations

Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

1997 • 119 citations

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

1993 • 117 citations

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

1996 • 105 citations

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

1993 • 100 citations

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

1996 • 100 citations

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

1994 • 88 citations

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho transformants

1995 • 83 citations

A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60

1993 • 83 citations

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

1997 • 82 citations

Cytochrome c oxidase deficiency in Leigh's syndrome

1989 • 81 citations

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

1998 • 77 citations

The Fate of Human Sperm-Derived mtDNA in Somatic Cells

1997 • 74 citations

Bilateral Striatal Necrosis and MELAS Associated with a New T3308C Mutation in the Mitochondrial ND1 Gene

1997 • 74 citations

Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic?

1997 • 71 citations

A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome

1997 • 62 citations

Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy

1996 • 61 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

Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect

1993 • 53 citations

Decreasing hydraulic conductivity of Bruch's membrane: Relevance to photoreceptor survival and lipofuscinoses

1995 • 52 citations

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

1990 • 49 citations

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

1995 • 46 citations

Mitochondrial DNA and Diseases of the Nervous System: The Spectrum

1998 • 36 citations

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

1995 • 33 citations

Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

1996 • 27 citations

Cytochrome oxidase deficiency: progress and problems

1994 • 21 citations

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies

1993 • 7 citations

Ultrastructural alterations in encephalomyopathies of mitochondrial origin

1998 • 6 citations