Published in Am J Hum Genet on November 14, 2006
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The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nat Med (2009) 3.05
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (2004) 2.97
A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia. Circulation (2008) 2.77
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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet (2005) 2.52
Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development (2004) 2.35
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet (2002) 2.28
SWAN MRI revealing multiple microhemorrhages secondary to septic emboli from mucormycosis. Neurology (2012) 1.97
Serotonin-related gene polymorphisms and central nervous system serotonin function. Neuropsychopharmacology (2002) 1.96
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet (2008) 1.95
Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke (2011) 1.91
Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific Advisory Board. Stroke (2008) 1.87
Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease. J Nucl Med (2006) 1.83
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor. J Biol Chem (2006) 1.68
Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled trial. Lancet Neurol (2011) 1.62
Redefining heart failure: the utility of genomics. J Am Coll Cardiol (2006) 1.52
Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. Genes Chromosomes Cancer (2002) 1.49
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Hum Mol Genet (2003) 1.49
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49
Accuracy and reproducibility of manual and semiautomated quantification of MS lesions by MRI. J Magn Reson Imaging (2003) 1.45
Vascular endothelial growth factor induces abnormal microvasculature in the endoglin heterozygous mouse brain. J Cereb Blood Flow Metab (2004) 1.44
Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genet (2009) 1.44
A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. Hum Mol Genet (2010) 1.39
Influence of serotonin transporter promoter region polymorphisms on hippocampal volumes in late-life depression. Arch Gen Psychiatry (2005) 1.39
Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke (2004) 1.39
A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet (2003) 1.38
Annexin A2 is a molecular target for TM601, a peptide with tumor-targeting and anti-angiogenic effects. J Biol Chem (2009) 1.33
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet (2006) 1.30
What's the problem with generic antiepileptic drugs?: a call to action. Neurology (2007) 1.30
Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. Am J Pathol (2004) 1.30
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet (2006) 1.29
Gene microarray analysis of human brain arteriovenous malformations. Neurosurgery (2004) 1.26
Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat (2006) 1.24
Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. Am J Physiol Heart Circ Physiol (2008) 1.24
Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mamm Genome (2006) 1.23
Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation (2002) 1.21
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics (2004) 1.19
A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. Circ Cardiovasc Genet (2009) 1.19
Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. PLoS Pathog (2010) 1.17
Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol (2011) 1.16
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Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models. Neurosurgery (2008) 1.12
Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum Mol Genet (2003) 1.11
Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice. Am J Pathol (2012) 1.09
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet (2012) 1.05
Childhood socioeconomic status and serotonin transporter gene polymorphism enhance cardiovascular reactivity to mental stress. Psychosom Med (2007) 1.04
QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. Mamm Genome (2005) 1.03
18F-FDG PET uptake in the pre-Huntington disease caudate affects the time-to-onset independently of CAG expansion size. Eur J Nucl Med Mol Imaging (2012) 1.03
IGF-1 partially restores chemotherapy-induced reductions in neural cell proliferation in adult C57BL/6 mice. Cancer Invest (2010) 1.02
Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery (2006) 1.01
Giant infiltrative cavernous malformation: clinical presentation, intervention, and genetic analysis: case report. Neurosurgery (2004) 0.99
The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet (2004) 0.99
Genotype-dependent priming to self- and xeno-cannibalism in heterozygous and homozygous lymphoblasts from patients with Huntington's disease. J Neurochem (2006) 0.97
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics (2006) 0.97
ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression. BMC Cardiovasc Disord (2006) 0.96
Potent pleiotropic anti-angiogenic effects of TM601, a synthetic chlorotoxin peptide. Anticancer Res (2010) 0.95
Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. J Mol Med (Berl) (2004) 0.95
Modifier locus on mouse chromosome 3 for renal vascular pathology in AT1A receptor-deficiency. Hypertension (2004) 0.95
FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease. Hum Mol Genet (2013) 0.95
Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord (2005) 0.94
The influence of gender on phenotype and disease progression in patients with Huntington's disease. Parkinsonism Relat Disord (2012) 0.94
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics (2007) 0.94
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet (2002) 0.94
Early defect of transforming growth factor β1 formation in Huntington's disease. J Cell Mol Med (2011) 0.93
Seeking Huntington disease biomarkers by multimodal, cross-sectional basal ganglia imaging. Hum Brain Mapp (2012) 0.93
Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction. PLoS Genet (2012) 0.93
Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype. FEBS J (2010) 0.92
Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1. J Biol Chem (2004) 0.91
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Ann Neurol (2002) 0.90
Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depression and gender. Psychiatr Genet (2003) 0.89
Aberrant A2A receptor function in peripheral blood cells in Huntington's disease. FASEB J (2003) 0.89
Mutational analysis of 206 families with cavernous malformations. J Neurosurg (2003) 0.89
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. Neurogenetics (2005) 0.89
Validation of the first quality-of-life measurement for patients with Huntington's disease: the Huntington Quality of Life Instrument. Int Clin Psychopharmacol (2012) 0.89
Truncated peroxisome proliferator-activated receptor-γ coactivator 1α splice variant is severely altered in Huntington's disease. Neurodegener Dis (2011) 0.88
Distribution of radio-labeled N-Acetyl-L-Cysteine in Sprague-Dawley rats and its effect on glutathione metabolism following single and repeat dosing by oral gavage. Cutan Ocul Toxicol (2007) 0.88
Seeking brain biomarkers for preventive therapy in Huntington disease. CNS Neurosci Ther (2010) 0.88
Structural MRI in Huntington's disease and recommendations for its potential use in clinical trials. Neurosci Biobehav Rev (2013) 0.88
Arteriovenous malformation. J Neurosurg (2007) 0.87
Precocious osteoarthritis in a family with recurrent COL2A1 mutation. J Rheumatol (2006) 0.87
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol (2004) 0.87