Citation Impact
Citing Papers
The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.
1987
Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy
2011
β-Catenin Controls Hair Follicle Morphogenesis and Stem Cell Differentiation in the Skin
2001 Standout
Genome-wide features of neuroendocrine regulation in Drosophila by the basic helix-loop-helix transcription factor DIMMED
2015 StandoutNobel
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
A Molecular basis for human hypersensitivity of aminoglyscoside antibiotics
1993
Long‐term stroke risk in children with sickle cell disease screened with transcranial doppler
1997
Rhabdomyolysis
2005
Stem cells, cancer, and cancer stem cells
2001 StandoutNature
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
2020
Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death
1990 StandoutNature
Mitochondrial oxidative phosphorylation defects in parkinson's disease
1991
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
The Failing Heart — An Engine Out of Fuel
2007 Standout
Premature ageing in mice expressing defective mitochondrial DNA polymerase
2004 StandoutNature
Mitochondrial function in neurodegeneration and ageing
1992
Mitochondrial Respiratory-Chain Diseases
2003
Hydrogen peroxide mediates amyloid β protein toxicity
1994 Standout
Control of β-Catenin Phosphorylation/Degradation by a Dual-Kinase Mechanism
2002 Standout
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
2004
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
1988 Nature
Hallmarks of aging: An expanding universe
2023 Standout
Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data.
1992 Standout
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
2008 Standout
Rhabdomyolysis and Acute Kidney Injury
2009 Standout
Paternal inheritance of mitochondrial DNA in mice
1991 Nature
Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes
2008
Steady state levels of mitochondrial and nuclear oxidative phosphorylation transcripts in Kearns-Sayre syndrome
1994
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
2015 StandoutNobel
Wnt proteins are lipid-modified and can act as stem cell growth factors
2003 StandoutNature
The Hedgehog and Wnt signalling pathways in cancer
2001 StandoutNature
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.
1996
The primary periodic paralyses: diagnosis, pathogenesis and treatment
2005
Lessons from Hereditary Colorectal Cancer
1996 Standout
Mitochondrial DNA and disease
2005
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency
1998
Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions
1999
Organization and Evolution of Brain Lipidome Revealed by Large-Scale Analysis of Human, Chimpanzee, Macaque, and Mouse Tissues
2015 StandoutNobel
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
2003
Mitochondria: In Sickness and in Health
2012 Standout
Myasthenia Gravis
1994 Standout
Apoptosis of Hippocampal Pyramidal Neurons Is Virus Independent in a Mouse Model of Acute Neurovirulent Picornavirus Infection
2009
Contributory mechanisms in the causation of neurodegenerative disorders
1993
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
1988
The Molecular Basis of Turcot's Syndrome
1995
Multiple Deletions Are Detectable in Mitochondrial DNA of Aging Mice
1995
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease
1990
The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains
1992 StandoutNobel
Is Parkinson's disease a mitochondrial disorder?
1992
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
1998
Variable Retinal and Neurologic Manifestations in Patients Harboring the Mitochondrial DNA 8993 Mutation
1993
Understanding the Odd Science of Aging
2005 Standout
Creatine metabolism and the consequences of creatine depletion in muscle
1994
Clinical features of melas and mitochondrial DNA mutations
1995
Prevention of a First Stroke by Transfusions in Children with Sickle Cell Anemia and Abnormal Results on Transcranial Doppler Ultrasonography
1998 Standout
[42]Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
1996
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome
2003
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
1996
Mitochondrial enzyme expression in the hippocampus in relation to Alzheimer-type pathology
1999
Deficiency of respiratory chain complex I is a common cause of leigh disease
1996
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
1990 StandoutNature
Superoxide dismutases of muscle in mitochondrial encephalomyopathies
1995
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Recent structural insight into mitochondria gained by microscopy
2000
Resveratrol Improves Mitochondrial Function and Protects against Metabolic Disease by Activating SIRT1 and PGC-1α
2006 Standout
Mismatch Repair Deficiency in Phenotypically Normal Human Cells
1995 StandoutScienceNobel
The Hallmarks of Aging
2013 Standout
TSC2 Integrates Wnt and Energy Signals via a Coordinated Phosphorylation by AMPK and GSK3 to Regulate Cell Growth
2006 Standout
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
1997 StandoutNobel
Naturally occurring p16Ink4a-positive cells shorten healthy lifespan
2016 StandoutNature
MELAS: Clinical features, biochemistry, and molecular genetics
1992
A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
1999
Detection of a specific mitochondrial DNA deletion in tissues of older humans
1990
The Use of Transcranial Ultrasonography to Predict Stroke in Sickle Cell Disease
1992
Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations
2007
Moyamoya Disease and Moyamoya Syndrome
2009 Standout
The familial periodic paralyses and nondystrophic myotonias
1998
Diet-induced ketosis increases monocarboxylate transporter (MCT1) levels in rat brain
2001
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
1997
Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
1997
Myocarditis
2009 Standout
Retinitis pigmentosa
1988
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
Convergence of Wnt, ß-Catenin, and Cadherin Pathways
2004 StandoutScience
Mutations of ANT1 , Twinkle , and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
2003
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
2005 Standout
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
1984
Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.
1989
ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death
2006
Mitochondrial disorders: Prevalence, myths and advances
2004
Wnt signaling and cancer
2000 Standout
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.
1991
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
1990
Detection of cerebrovascular disease in patients with sickle cell disease using transcranial Doppler sonography: correlation with MRI, MRA and conventional angiography
1995
Neural Science
2000 StandoutNobel
Stroke In Children
1996
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events
2002
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.
1991
Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation
1989 Science
Mitochondrial Dysfunction and Type 2 Diabetes
2005 StandoutScience
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
1994
The development of mitochondrial medicine.
1994
Aquaglyceroporin AQP9: Solute permeation and metabolic control of expression in liver
2003 StandoutNobel
Normal Mitochondrial Genome in Brain from Patients with Parkinson's Disease and Complex I Defect
1990
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
1992
Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
1988 StandoutScience
Cardiac-Specific Induction of the Transcriptional Coactivator Peroxisome Proliferator-Activated Receptor γ Coactivator-1α Promotes Mitochondrial Biogenesis and Reversible Cardiomyopathy in a Developmental Stage-Dependent Manner
2004
Bradykinin B1 and B2 receptors both have protective roles in renal ischemia/reperfusion injury
2007 StandoutNobel
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
1990
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.
1992
Oxidative Stress, Glutamate, and Neurodegenerative Disorders
1993 StandoutScience
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Mitochondrial DNA mutations and neuromuscular disease
1989
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype
2011 StandoutNobel
Works of Darryl C. DeVivo being referenced
Mitochondrial Morphology and Intracellular Calcium Homeostasis in Cytochrome Oxidase-Deficient Human Fibroblasts
1997
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
1993
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
1995
Cytochrome c Oxidase Deficiency
1990
MELAS: An original case and clinical criteria for diagnosis
1992
Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
1994
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
1989
Cytochrome c oxidase deficiency in leigh syndrome
1987
Mitochondrial Diseases
1989
Neurologic Complications of Sickle Cell Disease
1989
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
1983
Recurrent Childhood Myoglobinuria
1990
Mitochondrial myopathies
1985
The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency
1977
Vertebrobasilar Occlusive Disease in Children
1972
Clinical features and genetics of myoclonic epilepsy with ragged red fibers.
2002
Turcot's syndrome
1994
Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)
1979
Coxsackie A9 focal encephalitis associated with acute infantile hemiplegia and porencephaly
1977
Chronic ketosis and cerebral metabolism
1978