Published in Hum Mutat on February 01, 2003
The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol (2006) 1.09
Gene expression profile following stable expression of the cellular prion protein. Cell Mol Neurobiol (2004) 0.86
Copy number variations in a population-based study of Charcot-Marie-Tooth disease. Biomed Res Int (2015) 0.79
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Annotation of functional variation in personal genomes using RegulomeDB. Genome Res (2012) 11.47
Gene Ontology annotations at SGD: new data sources and annotation methods. Nucleic Acids Res (2007) 9.03
Saccharomyces Genome Database: the genomics resource of budding yeast. Nucleic Acids Res (2011) 8.57
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Glucose restriction inhibits skeletal myoblast differentiation by activating SIRT1 through AMPK-mediated regulation of Nampt. Dev Cell (2008) 5.51
Dnm1 forms spirals that are structurally tailored to fit mitochondria. J Cell Biol (2005) 3.75
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients. J Am Coll Cardiol (2006) 3.74
Genome Snapshot: a new resource at the Saccharomyces Genome Database (SGD) presenting an overview of the Saccharomyces cerevisiae genome. Nucleic Acids Res (2006) 3.59
Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans. Cell Metab (2005) 3.47
Saccharomyces Genome Database provides mutant phenotype data. Nucleic Acids Res (2009) 3.38
Expanded protein information at SGD: new pages and proteome browser. Nucleic Acids Res (2006) 3.31
Fusion of FIG to the receptor tyrosine kinase ROS in a glioblastoma with an interstitial del(6)(q21q21). Genes Chromosomes Cancer (2003) 2.67
Nutrient metal sequestration by calprotectin inhibits bacterial superoxide defense, enhancing neutrophil killing of Staphylococcus aureus. Cell Host Microbe (2011) 2.66
Training Future Scientists: Predicting First-year Minority Student Participation in Health Science Research. Res High Educ (2008) 2.66
An interactive power analysis tool for microarray hypothesis testing and generation. Bioinformatics (2006) 2.62
Sources of variability and effect of experimental approach on expression profiling data interpretation. BMC Bioinformatics (2002) 2.31
LCI699, a potent 11β-hydroxylase inhibitor, normalizes urinary cortisol in patients with Cushing's disease: results from a multicenter, proof-of-concept study. J Clin Endocrinol Metab (2013) 2.30
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain (2006) 2.22
Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures. Muscle Nerve (2009) 2.19
Inclusion of immigrant status in smoking prevalence statistics. Am J Public Health (2003) 2.16
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Changes in ubiquitin proteasome pathway gene expression in skeletal muscle with exercise and statins. Arterioscler Thromb Vasc Biol (2005) 2.12
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells. Nat Protoc (2012) 2.12
Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta. J Clin Invest (2009) 2.10
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet (2009) 2.09
Analysis of screening and confirmatory tests in the diagnosis of primary aldosteronism: need for a standardized protocol. J Hypertens (2006) 2.09
Gene profiling in spinal cord injury shows role of cell cycle in neuronal death. Ann Neurol (2003) 2.06
SLC30A8 nonsynonymous variant is associated with recovery following exercise and skeletal muscle size and strength. Diabetes (2013) 2.05
Calorie-related rapid onset of alveolar loss, regeneration, and changes in mouse lung gene expression. Am J Physiol Lung Cell Mol Physiol (2003) 2.04
Secreted proteome profiling in human RPE cell cultures derived from donors with age related macular degeneration and age matched healthy donors. J Proteome Res (2006) 2.04
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Deacetylase inhibitors increase muscle cell size by promoting myoblast recruitment and fusion through induction of follistatin. Dev Cell (2004) 2.01
Mdv1 interacts with assembled dnm1 to promote mitochondrial division. J Biol Chem (2005) 2.01
Interactively optimizing signal-to-noise ratios in expression profiling: project-specific algorithm selection and detection p-value weighting in Affymetrix microarrays. Bioinformatics (2004) 1.98
Mutational analysis of the N-terminal DNA-binding domain of sleeping beauty transposase: critical residues for DNA binding and hyperactivity in mammalian cells. Mol Cell Biol (2004) 1.97
Variability in muscle size and strength gain after unilateral resistance training. Med Sci Sports Exerc (2005) 1.95
YeastMine--an integrated data warehouse for Saccharomyces cerevisiae data as a multipurpose tool-kit. Database (Oxford) (2012) 1.92
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
ACE ID genotype and the muscle strength and size response to unilateral resistance training. Med Sci Sports Exerc (2006) 1.86
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet (2006) 1.85
Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. J Immunol (2002) 1.83
An overview of the BioCreative 2012 Workshop Track III: interactive text mining task. Database (Oxford) (2013) 1.82
Tissue-specific alternative splicing of TCF7L2. Hum Mol Genet (2009) 1.80
Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol (2003) 1.79
The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation. Dev Cell (2006) 1.78
Constitutive activation of MAPK cascade in acute quadriplegic myopathy. Ann Neurol (2004) 1.77
Antitumor activity of an allosteric inhibitor of centromere-associated protein-E. Proc Natl Acad Sci U S A (2010) 1.72
GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle. Physiol Genomics (2006) 1.67
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol (2008) 1.65
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circ Cardiovasc Genet (2011) 1.63
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Neuromuscul Disord (2012) 1.59
ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol (1985) (2005) 1.57
Nicolau Syndrome: three cases and review. Int J Dermatol (2006) 1.57
Embryonic myogenesis pathways in muscle regeneration. Dev Dyn (2004) 1.57
Differential dependency network analysis to identify condition-specific topological changes in biological networks. Bioinformatics (2008) 1.56
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Accelerator mass spectrometry. Anal Chem (1995) 1.55
Comparison of neosaxitoxin versus bupivacaine via port infiltration for postoperative analgesia following laparoscopic cholecystectomy: a randomized, double-blind trial. Reg Anesth Pain Med (2011) 1.54
Microtubules underlie dysfunction in duchenne muscular dystrophy. Sci Signal (2012) 1.54
Probe set algorithms: is there a rational best bet? BMC Bioinformatics (2006) 1.53
Dystrophin-deficient cardiomyopathy in mouse: expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart. Neuromuscul Disord (2008) 1.52
ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol (1985) (2005) 1.52
Persistent psychological distress in patients treated for endocrine disease. Psychother Psychosom (2004) 1.51
Functional characteristics of dystrophic skeletal muscle: insights from animal models. J Appl Physiol (1985) (2002) 1.50
Slug is a novel downstream target of MyoD. Temporal profiling in muscle regeneration. J Biol Chem (2002) 1.50
Functional polymorphisms associated with human muscle size and strength. Med Sci Sports Exerc (2004) 1.49
Prevention of extubation failure in high-risk patients with neuromuscular disease. J Crit Care (2011) 1.48
The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve (2013) 1.48
Migrants and tuberculosis: analysing epidemiological data with ethnography. Aust N Z J Public Health (2008) 1.46
Ultrastructural changes in LGMD1F. Neuropathology (2012) 1.43
Proteomics and systems biology in exercise and sport sciences research. Exerc Sport Sci Rev (2007) 1.43
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. Am J Pathol (2010) 1.41
Patterns of global gene expression in rat skeletal muscle during unloading and low-intensity ambulatory activity. Physiol Genomics (2003) 1.41
The PEPR GeneChip data warehouse, and implementation of a dynamic time series query tool (SGQT) with graphical interface. Nucleic Acids Res (2004) 1.40
A BAR domain in the N terminus of the Arf GAP ASAP1 affects membrane structure and trafficking of epidermal growth factor receptor. Curr Biol (2006) 1.40
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet (2008) 1.39
A web-accessible complete transcriptome of normal human and DMD muscle. Neuromuscul Disord (2002) 1.38
Left ventricular structural and functional characteristics in Cushing's syndrome. J Am Coll Cardiol (2003) 1.38
Preconditioning by sevoflurane decreases biochemical markers for myocardial and renal dysfunction in coronary artery bypass graft surgery: a double-blinded, placebo-controlled, multicenter study. Anesthesiology (2003) 1.35
Combining guilt-by-association and guilt-by-profiling to predict Saccharomyces cerevisiae gene function. Genome Biol (2008) 1.35
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet (2011) 1.33
Oncogenic targeting of an activated tyrosine kinase to the Golgi apparatus in a glioblastoma. Proc Natl Acad Sci U S A (2003) 1.33
Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. Proc Natl Acad Sci U S A (2012) 1.32
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet (2002) 1.32
Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1. FASEB J (2006) 1.31
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics (2002) 1.30