Published in Hum Mutat on September 01, 2008
Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol (2011) 1.86
Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis (2008) 1.77
Alpers-Huttenlocher syndrome. Pediatr Neurol (2013) 1.44
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta (2008) 1.43
Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood (2009) 1.37
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics (2013) 1.36
Genetic insights into OXPHOS defect and its role in cancer. Biochim Biophys Acta (2010) 1.29
Biology of mitochondria in neurodegenerative diseases. Prog Mol Biol Transl Sci (2012) 1.22
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. J Biol Chem (2009) 1.11
Mitochondrial genome maintenance in health and disease. DNA Repair (Amst) (2014) 1.08
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ. Nucleic Acids Res (2011) 1.08
Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Hum Mol Genet (2011) 1.04
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum Mol Genet (2010) 1.04
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase. J Biol Chem (2011) 1.00
The mitochondrial DNA polymerase in health and disease. Subcell Biochem (2010) 0.98
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure (2010) 0.98
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. Antimicrob Agents Chemother (2009) 0.98
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol (2011) 0.97
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. Methods (2010) 0.95
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr (2013) 0.94
Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol (2013) 0.94
Biochemical analysis of the G517V POLG variant reveals wild-type like activity. Mitochondrion (2011) 0.92
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. Biochim Biophys Acta (2014) 0.92
Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance. Hum Mol Genet (2012) 0.91
Defects of mitochondrial DNA replication. J Child Neurol (2014) 0.90
Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis (2013) 0.89
Effect of the Y955C mutation on mitochondrial DNA polymerase nucleotide incorporation efficiency and fidelity. Biochemistry (2011) 0.89
Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. Med Sci Monit (2011) 0.88
The interface of transcription and DNA replication in the mitochondria. Biochim Biophys Acta (2011) 0.88
Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number. PLoS One (2010) 0.88
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. Hum Mol Genet (2012) 0.84
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab (2011) 0.84
Do somatic mitochondrial DNA mutations contribute to Parkinson's disease? Parkinsons Dis (2011) 0.82
Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS. Neurotherapeutics (2013) 0.82
Human mitochondrial DNA replication machinery and disease. Curr Opin Genet Dev (2016) 0.82
Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics (2013) 0.82
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity. Hum Mol Genet (2015) 0.81
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion (2009) 0.81
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Arch Neurol (2010) 0.81
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia (2013) 0.79
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. BMC Med Genet (2012) 0.79
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. Eur J Hum Genet (2013) 0.79
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. JIMD Rep (2011) 0.78
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. Hum Genet (2015) 0.77
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae. Mitochondrion (2014) 0.77
Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms. Front Genet (2015) 0.76
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. J Neurol (2011) 0.76
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA. Front Genet (2015) 0.76
Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum Ataxias (2015) 0.76
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties. PLoS One (2015) 0.75
Therapeutic Targeting of the Mitochondria Initiates Excessive Superoxide Production and Mitochondrial Depolarization Causing Decreased mtDNA Integrity. PLoS One (2016) 0.75
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc (2016) 0.75
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. JIMD Rep (2013) 0.75
Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation? Neuropsychiatr Dis Treat (2011) 0.75
Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy. BMJ Case Rep (2010) 0.75
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome. JIMD Rep (2011) 0.75
DNA polymerases in the mitochondria: A critical review of the evidence. Front Biosci (Landmark Ed) (2017) 0.75
Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype. BMC Res Notes (2014) 0.75
Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism. BMC Neurol (2013) 0.75
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. J Biol Chem (2017) 0.75
The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis. Iran J Child Neurol (2015) 0.75
A novel POLG gene mutation in a patient with SANDO. J Exp Integr Med (2012) 0.75
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci (2017) 0.75
POLG mutation presenting with late-onset jerky torticollis. J Neurol (2012) 0.75
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet (2001) 3.82
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain (2006) 2.98
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet (2004) 2.91
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol (2004) 2.88
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain (2005) 2.44
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet (2005) 2.23
The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. J Biol Chem (1999) 2.22
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology (2005) 2.01
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet (2006) 1.99
The fidelity of human DNA polymerase gamma with and without exonucleolytic proofreading and the p55 accessory subunit. J Biol Chem (2001) 1.92
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology (2004) 1.89
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol (2004) 1.87
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. J Infect Dis (2007) 1.85
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics (1996) 1.84
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem (2005) 1.81
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord (2003) 1.70
Consequences of mutations in human DNA polymerase gamma. Gene (2005) 1.65
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet (2005) 1.58
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. Hum Mol Genet (2006) 1.54
POLG mutations in Alpers syndrome. Neurology (2005) 1.49
Molecular diagnosis of Alpers syndrome. J Hepatol (2006) 1.38
Early-onset familial parkinsonism due to POLG mutations. Ann Neurol (2006) 1.31
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat (2008) 1.27
POLG mutations and Alpers syndrome. Ann Neurol (2005) 1.19
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. DNA Repair (Amst) (2005) 1.19
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat (2003) 1.17
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol (2006) 1.17
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet (2003) 1.16
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol (2007) 1.13
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochim Biophys Acta (2007) 1.12
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat (2003) 1.07
Mitochondrial DNA polymerases from yeast to man: a new family of polymerases. Gene (1997) 1.02
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol (2004) 0.99
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord (2008) 0.97
POLG1 in idiopathic Parkinson disease. Neurology (2006) 0.96
Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology (2003) 0.91
D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion? Hum Genet (2002) 0.88
A polymorphic polymerase. Brain (2006) 0.86
Alpers syndrome with prominent white matter changes. Brain Dev (2007) 0.82
Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Neuropediatrics (2008) 0.82
Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay. Acta Biochim Pol (2006) 0.78
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet (2008) 16.17
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20
The RCSB Protein Data Bank: a redesigned query system and relational database based on the mmCIF schema. Nucleic Acids Res (2005) 7.81
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
The TEAD/TEF family of transcription factor Scalloped mediates Hippo signaling in organ size control. Dev Cell (2008) 4.90
Genome sequence and comparative microarray analysis of serotype M18 group A Streptococcus strains associated with acute rheumatic fever outbreaks. Proc Natl Acad Sci U S A (2002) 4.85
Dicer is required for embryonic angiogenesis during mouse development. J Biol Chem (2004) 4.40
Discovery of drug mode of action and drug repositioning from transcriptional responses. Proc Natl Acad Sci U S A (2010) 4.35
Biventricular pacing in patients with bradycardia and normal ejection fraction. N Engl J Med (2009) 4.17
The complete genome sequence of Mycobacterium avium subspecies paratuberculosis. Proc Natl Acad Sci U S A (2005) 4.16
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. Nature (2011) 3.90
Lung cancer signatures in plasma based on proteome profiling of mouse tumor models. Cancer Cell (2011) 3.88
Obesity: a challenge to esophagogastric junction integrity. Gastroenterology (2006) 3.72
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology (2013) 3.70
Single-layer MoS2 phototransistors. ACS Nano (2011) 3.43
Quantifying esophageal peristalsis with high-resolution manometry: a study of 75 asymptomatic volunteers. Am J Physiol Gastrointest Liver Physiol (2006) 3.41
Benign prostatic hyperplasia: prostatic arterial embolization versus transurethral resection of the prostate--a prospective, randomized, and controlled clinical trial. Radiology (2013) 3.32
ST2 as a marker for risk of therapy-resistant graft-versus-host disease and death. N Engl J Med (2013) 3.27
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Quantifying EGJ morphology and relaxation with high-resolution manometry: a study of 75 asymptomatic volunteers. Am J Physiol Gastrointest Liver Physiol (2006) 3.12
Tissue Doppler imaging is superior to strain rate imaging and postsystolic shortening on the prediction of reverse remodeling in both ischemic and nonischemic heart failure after cardiac resynchronization therapy. Circulation (2004) 3.12
The amphioxus genome illuminates vertebrate origins and cephalochordate biology. Genome Res (2008) 3.04
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400. Nat Cell Biol (2008) 2.93
L-histidine decarboxylase and Tourette's syndrome. N Engl J Med (2010) 2.92
Histopathologic variability and endoscopic correlates in adults with eosinophilic esophagitis. Gastrointest Endosc (2006) 2.89
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
A randomized controlled trial of Licartin for preventing hepatoma recurrence after liver transplantation. Hepatology (2007) 2.66
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes. PLoS Comput Biol (2009) 2.61
The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications. BMC Bioinformatics (2005) 2.60
Deglutitive upper esophageal sphincter relaxation: a study of 75 volunteer subjects using solid-state high-resolution manometry. Am J Physiol Gastrointest Liver Physiol (2006) 2.57
High-resolution manometry of the EGJ: an analysis of crural diaphragm function in GERD. Am J Gastroenterol (2007) 2.56
Predictors of left ventricular reverse remodeling after cardiac resynchronization therapy for heart failure secondary to idiopathic dilated or ischemic cardiomyopathy. Am J Cardiol (2003) 2.53
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T. J Am Coll Cardiol (2011) 2.40
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
A mouse to human search for plasma proteome changes associated with pancreatic tumor development. PLoS Med (2008) 2.31
Fasting c-peptide and insulin-like growth factor-binding protein-1 levels help to distinguish childhood type 1 and type 2 diabetes at diagnosis. Pediatr Diabetes (2007) 2.30
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat Cell Biol (2010) 2.29
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry (2011) 2.28
Regenerating islet-derived 3-alpha is a biomarker of gastrointestinal graft-versus-host disease. Blood (2011) 2.24
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Am J Hum Genet (2006) 2.22
Left ventricular reverse remodeling but not clinical improvement predicts long-term survival after cardiac resynchronization therapy. Circulation (2005) 2.22
Decreased STAT1 expression by promoter methylation in squamous cell carcinogenesis. J Natl Cancer Inst (2006) 2.21
Mitochondrial toxicity of NRTI antiviral drugs: an integrated cellular perspective. Nat Rev Drug Discov (2003) 2.20
Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain (2010) 2.19
Expression pattern shifts following duplication indicative of subfunctionalization and neofunctionalization in regulatory genes of Arabidopsis. Mol Biol Evol (2005) 2.18
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. Lab Invest (2006) 2.14
ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart. Cell Metab (2007) 2.14
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
DNA polymerase gamma in mitochondrial DNA replication and repair. Chem Rev (2006) 2.12
Quantitative analysis of acrylamide labeled serum proteins by LC-MS/MS. J Proteome Res (2006) 2.10
Progression of systolic abnormalities in patients with "isolated" diastolic heart failure and diastolic dysfunction. Circulation (2002) 2.09
Elafin is a biomarker of graft-versus-host disease of the skin. Sci Transl Med (2010) 2.08
Immunomic analysis of the repertoire of T-cell specificities for influenza A virus in humans. J Virol (2008) 2.07
Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia. Crit Care Med (2004) 2.07
Mitochondrial disease: a practical approach for primary care physicians. Pediatrics (2007) 2.06
Global characterization of Artemisia annua glandular trichome transcriptome using 454 pyrosequencing. BMC Genomics (2009) 2.04
Contribution of protein fractionation to depth of analysis of the serum and plasma proteomes. J Proteome Res (2007) 2.04
A novel tool to assess systolic asynchrony and identify responders of cardiac resynchronization therapy by tissue synchronization imaging. J Am Coll Cardiol (2005) 2.03
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Direct laser writing of micro-supercapacitors on hydrated graphite oxide films. Nat Nanotechnol (2011) 2.02
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet (2006) 1.99
Practice patterns for intraoperative neurophysiologic monitoring. Neurology (2013) 1.98
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
Phosphorylation by casein kinase I promotes the turnover of the Mdm2 oncoprotein via the SCF(beta-TRCP) ubiquitin ligase. Cancer Cell (2010) 1.95
Deletion of the P2X7 nucleotide receptor reveals its regulatory roles in bone formation and resorption. Mol Endocrinol (2003) 1.93
Src kinases mediate STAT growth pathways in squamous cell carcinoma of the head and neck. J Biol Chem (2003) 1.88
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol (2004) 1.87
Independent and incremental prognostic value of early mitral annulus velocity in patients with impaired left ventricular systolic function. J Am Coll Cardiol (2005) 1.85
AMPK dysregulation promotes diabetes-related reduction of superoxide and mitochondrial function. J Clin Invest (2013) 1.84
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem (2005) 1.81
Comparison of the Bravo wireless and Digitrapper catheter-based pH monitoring systems for measuring esophageal acid exposure. Am J Gastroenterol (2005) 1.78
Multilocus short sequence repeat sequencing approach for differentiating among Mycobacterium avium subsp. paratuberculosis strains. J Clin Microbiol (2004) 1.78
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet (2006) 1.78
Automating document classification for the Immune Epitope Database. BMC Bioinformatics (2007) 1.76
Genome scale comparison of Mycobacterium avium subsp. paratuberculosis with Mycobacterium avium subsp. avium reveals potential diagnostic sequences. J Clin Microbiol (2002) 1.73
Lysosomal transmembrane protein LAPTM4B promotes autophagy and tolerance to metabolic stress in cancer cells. Cancer Res (2011) 1.73
Proteomic analysis of ovarian cancer cells reveals dynamic processes of protein secretion and shedding of extra-cellular domains. PLoS One (2008) 1.72
Benefits of cardiac resynchronization therapy for heart failure patients with narrow QRS complexes and coexisting systolic asynchrony by echocardiography. J Am Coll Cardiol (2006) 1.70
Fabrication of single- and multilayer MoS2 film-based field-effect transistors for sensing NO at room temperature. Small (2011) 1.69
Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther (2007) 1.69
Long-range activation of Sox9 in Odd Sex (Ods) mice. Hum Mol Genet (2004) 1.68
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One (2008) 1.68
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.67
DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity. Proc Natl Acad Sci U S A (2005) 1.67
Congenital fibrovascular pupillary membranes: clinical and histopathologic findings. Ophthalmology (2011) 1.67
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Consequences of mutations in human DNA polymerase gamma. Gene (2005) 1.65