Published in Brain on December 24, 2013
WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies. Biochim Biophys Acta (2014) 0.98
Advancing epilepsy genetics in the genomic era. Genome Med (2015) 0.97
WW domain-containing oxidoreductase in neuronal injury and neurological diseases. Oncotarget (2014) 0.96
The fragile site WWOX gene and the developing brain. Exp Biol Med (Maywood) (2014) 0.88
Tumor Suppressor WWOX inhibits osteosarcoma metastasis by modulating RUNX2 function. Sci Rep (2015) 0.85
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. J Hum Genet (2015) 0.84
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol (2015) 0.83
Pleiotropic Functions of Tumor Suppressor WWOX in Normal and Cancer Cells. J Biol Chem (2015) 0.82
Introduction to a thematic issue for WWOX. Exp Biol Med (Maywood) (2015) 0.81
Alteration of WWOX in human cancer: a clinical view. Exp Biol Med (Maywood) (2015) 0.80
WWOX dysfunction induces sequential aggregation of TRAPPC6AΔ, TIAF1, tau and amyloid β, and causes apoptosis. Cell Death Discov (2015) 0.80
WWOX, the chromosomal fragile site FRA16D spanning gene: its role in metabolism and contribution to cancer. Exp Biol Med (Maywood) (2015) 0.79
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet (2015) 0.77
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. BMC Med Genet (2016) 0.76
Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy Phenotypes. PLoS One (2015) 0.75
Role of WW domain proteins WWOX in development, prognosis, and treatment response of glioma. Exp Biol Med (Maywood) (2014) 0.75
Tumor Suppressor Genes within Common Fragile Sites Are Active Players in the DNA Damage Response. PLoS Genet (2016) 0.75
Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias (2017) 0.75
The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics (2005) 34.83
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Structure of the WW domain of a kinase-associated protein complexed with a proline-rich peptide. Nature (1996) 3.11
WWOX: a candidate tumor suppressor gene involved in multiple tumor types. Proc Natl Acad Sci U S A (2001) 2.79
A keratin K5Cre transgenic line appropriate for tissue-specific or generalized Cre-mediated recombination. Genesis (2004) 2.40
Structural analysis of WW domains and design of a WW prototype. Nat Struct Biol (2000) 2.38
Targeted deletion of Wwox reveals a tumor suppressor function. Proc Natl Acad Sci U S A (2007) 2.37
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
The autosomal recessive cerebellar ataxias. N Engl J Med (2012) 2.15
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology (2003) 1.74
The WWOX tumor suppressor is essential for postnatal survival and normal bone metabolism. J Biol Chem (2008) 1.67
WWOX in biological control and tumorigenesis. J Cell Physiol (2007) 1.66
Phi-analysis at the experimental limits: mechanism of beta-hairpin formation. J Mol Biol (2006) 1.53
WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. Oncogene (2004) 1.47
A protein-domain microarray identifies novel protein-protein interactions. Biochem J (2002) 1.42
WWOX protein expression in normal human tissues. J Mol Histol (2006) 1.22
Generation and characterization of mice carrying a conditional allele of the Wwox tumor suppressor gene. PLoS One (2009) 1.18
A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. Genes Brain Behav (2009) 1.17
Inhibition of the Wnt/beta-catenin pathway by the WWOX tumor suppressor protein. Oncogene (2009) 1.15
Expression of WW domain-containing oxidoreductase WOX1 in the developing murine nervous system. Neuroscience (2004) 1.09
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem (2010) 1.09
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development. Eur J Hum Genet (2011) 0.97
Phenotypic characterization of spontaneously mutated rats showing lethal dwarfism and epilepsy. Comp Med (2007) 0.92
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Brain (2007) 0.85
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Minimal changes of serum creatinine predict prognosis in patients after cardiothoracic surgery: a prospective cohort study. J Am Soc Nephrol (2004) 7.79
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Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Acute kidney injury in critically ill patients classified by AKIN versus RIFLE using the SAPS 3 database. Intensive Care Med (2009) 3.20
A draft genome of Yersinia pestis from victims of the Black Death. Nature (2011) 3.18
Differential expression in SAGE: accounting for normal between-library variation. Bioinformatics (2003) 3.06
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell (2002) 2.98
SAPS 3--From evaluation of the patient to evaluation of the intensive care unit. Part 1: Objectives, methods and cohort description. Intensive Care Med (2005) 2.84
Prevention of atrial fibrillation after cardioversion: results of the PAFAC trial. Eur Heart J (2004) 2.78
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
The novel human protein arginine N-methyltransferase PRMT6 is a nuclear enzyme displaying unique substrate specificity. J Biol Chem (2001) 2.63
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet (2005) 2.59
Impact of minimal increases in serum creatinine on outcome in patients after cardiothoracic surgery: do we have to revise current definitions of acute renal failure? Crit Care Med (2008) 2.51
Specific protein methylation defects and gene expression perturbations in coactivator-associated arginine methyltransferase 1-deficient mice. Proc Natl Acad Sci U S A (2003) 2.50
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
Errors in administration of parenteral drugs in intensive care units: multinational prospective study. BMJ (2009) 2.46
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Muscle Nogo-A expression is a prognostic marker in lower motor neuron syndromes. Ann Neurol (2007) 2.37
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet (2009) 2.29
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
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Long-term outcomes of CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) in a consecutive series of 12 patients. Arch Neurol (2012) 2.13
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol (2009) 2.09
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
Variability in outcome and resource use in intensive care units. Intensive Care Med (2007) 2.04
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Overdispersed logistic regression for SAGE: modelling multiple groups and covariates. BMC Bioinformatics (2004) 2.01
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet (2003) 2.00
Incidence and prognosis of dysnatremias present on ICU admission. Intensive Care Med (2009) 1.97
Ventilator-induced cell wounding and repair in the intact lung. Am J Respir Crit Care Med (2002) 1.97
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet (2010) 1.95
The German hospital malnutrition study. Clin Nutr (2006) 1.93
SSR mining in coffee tree EST databases: potential use of EST-SSRs as markers for the Coffea genus. Mol Genet Genomics (2006) 1.92
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A (2002) 1.91
Epidemiology of mechanical ventilation: analysis of the SAPS 3 database. Intensive Care Med (2009) 1.88
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet (2004) 1.85
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Impact of body mass on incidence and prognosis of acute kidney injury requiring renal replacement therapy. Intensive Care Med (2010) 1.83
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain (2003) 1.82
Genome-wide comparison of medieval and modern Mycobacterium leprae. Science (2013) 1.81
Testing and estimation in flexible group sequential designs with adaptive treatment selection. Stat Med (2005) 1.80
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain (2007) 1.76
Gene expression signature of estrogen receptor alpha status in breast cancer. BMC Genomics (2005) 1.75
Discovery of a chemical probe for the L3MBTL3 methyllysine reader domain. Nat Chem Biol (2013) 1.72
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Transcriptomic changes in human breast cancer progression as determined by serial analysis of gene expression. Breast Cancer Res (2004) 1.71
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet (2010) 1.67
End-of-life practices in 282 intensive care units: data from the SAPS 3 database. Intensive Care Med (2008) 1.62
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet (2010) 1.61
Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial. Lancet Neurol (2012) 1.61
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet (2005) 1.60
Kick and rush: paradoxical kinesia in Parkinson disease. Neurology (2008) 1.59
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet (2013) 1.59
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Mov Disord (2007) 1.58
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem (2003) 1.58
P21-activated kinase 1 regulation of estrogen receptor-alpha activation involves serine 305 activation linked with serine 118 phosphorylation. Cancer Res (2006) 1.58
Suppression of paroxysmal atrial tachyarrhythmias--results of the SOPAT trial. Eur Heart J (2004) 1.58
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev (2002) 1.57
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet (2009) 1.55
Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest (2014) 1.55
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
Epidemiology of neural tube defects. Saudi Med J (2014) 1.53
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat (2013) 1.53
The valence of action outcomes modulates the perception of one's actions. Conscious Cogn (2011) 1.52