Published in Proc Natl Acad Sci U S A on April 03, 2013
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron (2013) 3.63
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature (2014) 3.59
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron (2013) 3.25
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A (2013) 2.95
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med (2013) 2.89
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science (2014) 2.78
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A (2013) 2.31
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature (2015) 2.11
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science (2015) 2.06
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep (2013) 1.96
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol (2013) 1.95
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature (2015) 1.77
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron (2014) 1.65
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol (2014) 1.48
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc Natl Acad Sci U S A (2013) 1.44
Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol (2014) 1.35
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron (2016) 1.35
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain (2014) 1.33
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2013) 1.32
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. PLoS One (2013) 1.25
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. Acta Neuropathol (2014) 1.22
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders. Hum Mol Genet (2013) 1.21
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. Sci Rep (2016) 1.20
Decoding ALS: from genes to mechanism. Nature (2016) 1.18
TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. J Biol Chem (2013) 1.15
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2014) 1.09
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier. Acta Neuropathol (2014) 1.04
Molecular determinants of the axonal mRNA transcriptome. Dev Neurobiol (2013) 1.04
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles. Cell (2016) 1.03
Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS. Neuron (2015) 1.03
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. Neuron (2015) 1.01
Transposable elements modulate human RNA abundance and splicing via specific RNA-protein interactions. Genome Biol (2014) 1.00
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Neuron (2015) 1.00
Non-coding RNA in neural function, disease, and aging. Front Genet (2015) 0.97
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet (2013) 0.96
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Curr Opin Neurol (2014) 0.92
A fruitful endeavor: modeling ALS in the fruit fly. Brain Res (2014) 0.91
RNA-protein interactions in unstable microsatellite diseases. Brain Res (2014) 0.89
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry (2015) 0.88
Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathol Appl Neurobiol (2015) 0.85
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS. Brain Res (2016) 0.85
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Nucleic Acids Res (2014) 0.85
C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity. Am J Neurodegener Dis (2014) 0.84
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease. Nat Rev Neurosci (2016) 0.84
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Sci Adv (2016) 0.83
RNautophagy/DNautophagy possesses selectivity for RNA/DNA substrates. Nucleic Acids Res (2015) 0.83
Drosophila as an In Vivo Model for Human Neurodegenerative Disease. Genetics (2015) 0.83
The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. Elife (2016) 0.82
Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia. J Cent Nerv Syst Dis (2014) 0.82
Worming forward: amyotrophic lateral sclerosis toxicity mechanisms and genetic interactions in Caenorhabditis elegans. Front Genet (2014) 0.81
GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function. Elife (2015) 0.81
Axonal transport defects are a common phenotype in Drosophila models of ALS. Hum Mol Genet (2016) 0.80
From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathol Commun (2016) 0.80
Pur-alpha functionally interacts with FUS carrying ALS-associated mutations. Cell Death Dis (2015) 0.80
Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases. J Neuropathol Exp Neurol (2015) 0.80
Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging (2014) 0.79
C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Mol Neurobiol (2016) 0.79
RNA Structures as Mediators of Neurological Diseases and as Drug Targets. Neuron (2015) 0.79
Solution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitution. Nucleic Acids Res (2015) 0.78
Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders. Mol Neurobiol (2016) 0.78
Expression of dual-specificity phosphatase 5 pseudogene 1 (DUSP5P1) in tumor cells. PLoS One (2014) 0.78
Toxic RNA as a driver of disease in a common form of ALS and dementia. Proc Natl Acad Sci U S A (2013) 0.78
Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets? Neurodegener Dis Manag (2014) 0.78
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta Neuropathol Commun (2016) 0.78
C9orf72-associated FTD/ALS: when less is more. Neuron (2013) 0.77
A network of RNA and protein interactions in Fronto Temporal Dementia. Front Mol Neurosci (2015) 0.77
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. World J Stem Cells (2015) 0.77
The Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease. Front Neurosci (2016) 0.77
Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1. Dis Model Mech (2014) 0.77
RNA-binding protein misregulation in microsatellite expansion disorders. Adv Exp Med Biol (2014) 0.77
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. Neurosci Lett (2016) 0.76
Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration. Front Cell Neurosci (2016) 0.76
Identifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases. Nucleic Acids Res (2016) 0.76
Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha. Elife (2016) 0.76
Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity. PLoS One (2016) 0.76
C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease. Traffic (2017) 0.75
Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases. Front Cell Neurosci (2017) 0.75
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106. Elife (2017) 0.75
Control of mRNA Translation in ALS Proteinopathy. Front Mol Neurosci (2017) 0.75
Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity. Acta Neuropathol (2016) 0.75
RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev (2017) 0.75
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Hum Mol Genet (2017) 0.75
Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents. Acta Naturae (2015) 0.75
Making sense of the antisense transcripts in C9FTD/ALS. Acta Neuropathol (2013) 0.75
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. EMBO J (2017) 0.75
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development (1993) 58.26
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (2009) 12.99
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron (2004) 6.71
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol (2007) 6.58
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science (2013) 6.34
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
RNA-mediated neuromuscular disorders. Annu Rev Neurosci (2006) 4.24
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology (2002) 3.91
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol (2011) 3.73
Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A (2010) 3.58
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain (2012) 3.43
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron (2007) 3.17
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron (2003) 2.81
Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology (2005) 2.72
Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol (2012) 2.48
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol (2013) 2.27
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet (2008) 2.00
Axonal transport defects: a common theme in neurodegenerative diseases. Acta Neuropathol (2005) 1.76
Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle (2009) 1.39
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging (2012) 1.30
Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci (2011) 1.24
Quantitative analysis of the detergent-insoluble brain proteome in frontotemporal lobar degeneration using SILAC internal standards. J Proteome Res (2012) 1.05
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine. Nat Biotechnol (2010) 9.01
Base-resolution analysis of 5-hydroxymethylcytosine in the mammalian genome. Cell (2012) 7.09
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Brain environment interactions: stress, posttraumatic stress disorder, and the need for a postmortem brain collection. Psychiatry (2004) 5.29
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Drosophila intestinal response to bacterial infection: activation of host defense and stem cell proliferation. Cell Host Microbe (2009) 4.21
5-hmC-mediated epigenetic dynamics during postnatal neurodevelopment and aging. Nat Neurosci (2011) 4.15
Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA. Hum Mol Genet (2007) 4.08
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol (2014) 3.75
The Drosophila amidase PGRP-LB modulates the immune response to bacterial infection. Immunity (2006) 3.51
Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol (2004) 3.39
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Cross talk between microRNA and epigenetic regulation in adult neurogenesis. J Cell Biol (2010) 3.16
Genome-wide profiling of 5-formylcytosine reveals its roles in epigenetic priming. Cell (2013) 3.13
MicroRNA miR-137 regulates neuronal maturation by targeting ubiquitin ligase mind bomb-1. Stem Cells (2010) 2.89
Integrating 5-hydroxymethylcytosine into the epigenomic landscape of human embryonic stem cells. PLoS Genet (2011) 2.87
The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J Neurosci (2006) 2.77
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Oxidative damage of DJ-1 is linked to sporadic Parkinson and Alzheimer diseases. J Biol Chem (2006) 2.50
Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases. J Biol Chem (2004) 2.46
Neuronal and glial pathological changes during epileptogenesis in the mouse pilocarpine model. Exp Neurol (2003) 2.46
Phosphoglycerate mutase 1 coordinates glycolysis and biosynthesis to promote tumor growth. Cancer Cell (2012) 2.39
Engineering tolerance and hyperaccumulation of arsenic in plants by combining arsenate reductase and gamma-glutamylcysteine synthetase expression. Nat Biotechnol (2002) 2.23
Comparison of the American-European Consensus Group Sjogren's syndrome classification criteria to newly proposed American College of Rheumatology criteria in a large, carefully characterised sicca cohort. Ann Rheum Dis (2013) 2.21
Mutant huntingtin causes context-dependent neurodegeneration in mice with Huntington's disease. J Neurosci (2003) 2.20
Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol (2002) 2.19
N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking. J Neurosci (2008) 2.18
Hippocampal sclerosis in advanced age: clinical and pathological features. Brain (2011) 2.16
Regulation of neuronal survival factor MEF2D by chaperone-mediated autophagy. Science (2009) 2.13
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol (2008) 2.04
Electrically conductive and optically active porous silicon nanowires. Nano Lett (2009) 2.00
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Epigenetic regulation of miR-184 by MBD1 governs neural stem cell proliferation and differentiation. Cell Stem Cell (2010) 1.86
A small molecule enhances RNA interference and promotes microRNA processing. Nat Biotechnol (2008) 1.80
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet (2013) 1.79
Inhibitor of apoptosis 2 and TAK1-binding protein are components of the Drosophila Imd pathway. EMBO J (2005) 1.79
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. PLoS Genet (2010) 1.77
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. J Neuropathol Exp Neurol (2006) 1.72
Roles of small regulatory RNAs in determining neuronal identity. Nat Rev Neurosci (2010) 1.68
Tet-assisted bisulfite sequencing of 5-hydroxymethylcytosine. Nat Protoc (2012) 1.66
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An invasive podosome-like structure promotes fusion pore formation during myoblast fusion. J Cell Biol (2010) 1.59
Proteomic characterization of postmortem amyloid plaques isolated by laser capture microdissection. J Biol Chem (2004) 1.58
Antigen-retrieval procedure for bromodeoxyuridine immunolabeling with concurrent labeling of nuclear DNA and antigens damaged by HCl pretreatment. J Neurosci (2007) 1.54
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease. Am J Pathol (2004) 1.53
High-kappa oxide nanoribbons as gate dielectrics for high mobility top-gated graphene transistors. Proc Natl Acad Sci U S A (2010) 1.52
Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J Neurosci (2002) 1.48
Polyubiquitin linkage profiles in three models of proteolytic stress suggest the etiology of Alzheimer disease. J Biol Chem (2011) 1.48
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Argonaute 1 regulates the fate of germline stem cells in Drosophila. Development (2007) 1.47
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
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Neuronal LR11/sorLA expression is reduced in mild cognitive impairment. Ann Neurol (2007) 1.45
alpha-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseases. Acta Neuropathol (2004) 1.43
Deficient high-affinity binding of Pittsburgh compound B in a case of Alzheimer's disease. Acta Neuropathol (2009) 1.42
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet (2012) 1.41
Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease. Hum Mol Genet (2005) 1.39
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Physiological identification of human transcripts translationally regulated by a specific microRNA. Hum Mol Genet (2005) 1.39
A single modular serine protease integrates signals from pattern-recognition receptors upstream of the Drosophila Toll pathway. Proc Natl Acad Sci U S A (2009) 1.38
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Cholesterol involvement in the pathogenesis of neurodegenerative diseases. Mol Cell Neurosci (2009) 1.35
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
Ets2 maintains hTERT gene expression and breast cancer cell proliferation by interacting with c-Myc. J Biol Chem (2008) 1.34
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
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Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
TERT regulates cell survival independent of telomerase enzymatic activity. Oncogene (2002) 1.31
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency. Nat Cell Biol (2013) 1.27