Published in Arch Neurol on March 01, 2005
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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet (2007) 1.05
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Mitochondrial genome analysis of primary open angle glaucoma patients. PLoS One (2013) 0.84
The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet (2006) 0.83
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Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation. Sci Rep (2015) 0.79
A MELAS syndrome family harboring two mutations in mitochondrial genome. Exp Mol Med (2008) 0.78
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A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes. J Neurol (2009) 0.75
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
MRI profile and response to endovascular reperfusion after stroke (DEFUSE 2): a prospective cohort study. Lancet Neurol (2012) 5.91
Idarucizumab for Dabigatran Reversal. N Engl J Med (2015) 5.91
Cryptogenic stroke and underlying atrial fibrillation. N Engl J Med (2014) 5.44
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
Using dabigatran in patients with stroke: a practical guide for clinicians. Stroke (2011) 2.97
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet (2005) 2.73
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet (2006) 2.66
Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet (2012) 2.59
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci (2008) 2.39
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol (2002) 2.14
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02
Reduced platelet activity is associated with early clot growth and worse 3-month outcome after intracerebral hemorrhage. Stroke (2009) 1.96
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature (2012) 1.95
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet (2009) 1.79
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol (2012) 1.77
Cryptogenic Stroke and underlying Atrial Fibrillation (CRYSTAL AF): design and rationale. Am Heart J (2010) 1.76
Rapamycin reduces disease activity and normalizes T cell activation-induced calcium fluxing in patients with systemic lupus erythematosus. Arthritis Rheum (2006) 1.76
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage. Proc Natl Acad Sci U S A (2005) 1.68
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet (2007) 1.67
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A (2004) 1.64
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest (2003) 1.60
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. Arch Neurol (2009) 1.58
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
Early platelet transfusion improves platelet activity and may improve outcomes after intracerebral hemorrhage. Neurocrit Care (2012) 1.55
Novel cell lines derived from adult human ventricular cardiomyocytes. J Mol Cell Cardiol (2005) 1.54
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol (2005) 1.53
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet (2006) 1.53
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Activation of mammalian target of rapamycin controls the loss of TCRzeta in lupus T cells through HRES-1/Rab4-regulated lysosomal degradation. J Immunol (2009) 1.52
Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr (2004) 1.49
Disulfiram neuropathy: two cases of distal axonopathy. Clin Toxicol (Phila) (2008) 1.47
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain (2011) 1.46
Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol (2002) 1.45
Toward more efficient clinical trials for amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 1.45
Mitochondrial encephalomyopathies: an update. Neuromuscul Disord (2005) 1.45
Amplification of acute focal ischemic deficit by narcotics. Neurocrit Care (2008) 1.44
Ramsay-Hunt syndrome complicated by unilateral multiple cranial nerve palsies. Neurol Sci (2008) 1.44
Endovascular stroke therapy: a single-center retrospective review. Neurosurg Focus (2011) 1.44
Experience with the Awaji Island modifications to the ALS diagnostic criteria. Muscle Nerve (2010) 1.43
Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke. Arch Neurol (2004) 1.42
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther (2011) 1.42
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J (2008) 1.41
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature (2011) 1.41
Ictal sensory periodic lateralized epileptiform discharges. Epilepsy Behav (2011) 1.40
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet (2008) 1.40
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord (2008) 1.39
N-acetylcysteine reduces disease activity by blocking mammalian target of rapamycin in T cells from systemic lupus erythematosus patients: a randomized, double-blind, placebo-controlled trial. Arthritis Rheum (2012) 1.38
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J (2010) 1.36
Surgical management of endocarditis: the society of thoracic surgeons clinical practice guideline. Ann Thorac Surg (2011) 1.36
Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease. Neurobiol Aging (2002) 1.35
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem (2006) 1.35
Postpartum angiopathy and other cerebral vasoconstriction syndromes. Neurocrit Care (2005) 1.35
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain (2003) 1.35
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
Human coenzyme Q10 deficiency. Neurochem Res (2006) 1.34
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33
Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J (2008) 1.31
Early-onset familial parkinsonism due to POLG mutations. Ann Neurol (2006) 1.31
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Endovascular stenting of extracranial carotid and vertebral artery dissections: a systematic review of the literature. Neurosurgery (2011) 1.29
Wolff-Parkinson-White syndrome in Patients With MELAS. Arch Neurol (2007) 1.29
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol (2003) 1.29
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol (2003) 1.28
Mitochondrial diseases: therapeutic approaches. Biosci Rep (2007) 1.28
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet (2003) 1.26
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One (2010) 1.26