Published in Neurobiol Dis on July 24, 2006
FMR1: a gene with three faces. Biochim Biophys Acta (2009) 1.77
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Mouse models of fragile X-associated tremor ataxia. J Investig Med (2009) 1.15
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res (2010) 1.13
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci (2016) 0.99
Familial amyloid precursor protein mutants cause caspase-6-dependent but amyloid β-peptide-independent neuronal degeneration in primary human neuron cultures. Cell Death Dis (2010) 0.96
Nucleotide excision repair deficient mouse models and neurological disease. DNA Repair (Amst) (2008) 0.92
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. J Neurodev Disord (2014) 0.89
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS. Hum Mol Genet (2015) 0.81
Proteins with Intrinsically Disordered Domains Are Preferentially Recruited to Polyglutamine Aggregates. PLoS One (2015) 0.80
Ameliorative effects of a combination of baicalin, jasminoidin and cholic acid on ibotenic acid-induced dementia model in rats. PLoS One (2013) 0.77
Loss of RAD-23 Protects Against Models of Motor Neuron Disease by Enhancing Mutant Protein Clearance. J Neurosci (2015) 0.75
MGMT gene silencing and benefit from temozolomide in glioblastoma. N Engl J Med (2005) 29.65
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C). Nat Genet (2006) 11.02
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet (2003) 6.82
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature (2006) 5.57
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Genomewide association studies of stroke. N Engl J Med (2009) 5.29
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Adjuvant procarbazine, lomustine, and vincristine chemotherapy in newly diagnosed anaplastic oligodendroglioma: long-term follow-up of EORTC brain tumor group study 26951. J Clin Oncol (2012) 4.70
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes (2008) 3.54
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet (2008) 3.25
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Intrinsic gene expression profiles of gliomas are a better predictor of survival than histology. Cancer Res (2009) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
International Society Of Neuropathology--Haarlem consensus guidelines for nervous system tumor classification and grading. Brain Pathol (2014) 3.21
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. Clin Cancer Res (2010) 3.13
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet (2005) 3.09
Exosome-mediated transmission of hepatitis C virus between human hepatoma Huh7.5 cells. Proc Natl Acad Sci U S A (2013) 2.99
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol (2008) 2.91
Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell (2006) 2.84
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med (2009) 2.80
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet (2002) 2.78
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66
Randomized phase II trial of erlotinib versus temozolomide or carmustine in recurrent glioblastoma: EORTC brain tumor group study 26034. J Clin Oncol (2009) 2.65
RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling. Cell (2012) 2.60
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet (2004) 2.54
Human USP3 is a chromatin modifier required for S phase progression and genome stability. Curr Biol (2007) 2.54
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet (2008) 2.45
Nuclear dynamics of RAD52 group homologous recombination proteins in response to DNA damage. EMBO J (2002) 2.45
Proteomic analysis of exosomes isolated from human malignant pleural effusions. Am J Respir Cell Mol Biol (2004) 2.44
Nuclear dynamics of PCNA in DNA replication and repair. Mol Cell Biol (2005) 2.44
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Heterochromatin protein 1 is recruited to various types of DNA damage. J Cell Biol (2009) 2.26
DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. Genes Dev (2006) 2.22
The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation. Cell (2011) 2.16
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA (2006) 2.15
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet (2007) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Crystal structure of thymine DNA glycosylase conjugated to SUMO-1. Nature (2005) 2.11
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics (2006) 2.10
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. Genes Dev (2003) 2.09
Global regulation of promoter melting in naive lymphocytes. Cell (2013) 2.05
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A (2011) 2.01
MGMT promoter methylation is prognostic but not predictive for outcome to adjuvant PCV chemotherapy in anaplastic oligodendroglial tumors: a report from EORTC Brain Tumor Group Study 26951. J Clin Oncol (2009) 1.99
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo. Mol Cell (2002) 1.90
Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet B Neuropsychiatr Genet (2003) 1.90
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. PLoS Biol (2006) 1.89
A genome-wide association study of optic disc parameters. PLoS Genet (2010) 1.87
Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes. J Hypertens (2007) 1.85
Identification of differentially regulated splice variants and novel exons in glial brain tumors using exon expression arrays. Cancer Res (2007) 1.83
LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. Diabetes (2007) 1.83
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet (2012) 1.79
Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet (2012) 1.79
A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. Mol Cell (2010) 1.79
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis (2009) 1.78
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet (2009) 1.77
Nucleotide excision repair-induced H2A ubiquitination is dependent on MDC1 and RNF8 and reveals a universal DNA damage response. J Cell Biol (2009) 1.77
Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease. Hypertension (2008) 1.77
FMR1: a gene with three faces. Biochim Biophys Acta (2009) 1.77
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet (2002) 1.76
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72