Published in Invest Ophthalmol Vis Sci on February 01, 2005
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol (2011) 1.76
Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci (2007) 1.75
High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS (2006) 1.52
Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol (2010) 1.49
Magnetic resonance imaging of aging, accommodating, phakic, and pseudophakic ciliary muscle diameters. J Cataract Refract Surg (2006) 1.43
Compartmentalized innervation of primate lateral rectus muscle. Invest Ophthalmol Vis Sci (2010) 1.38
Magnetic resonance imaging of tissues compatible with supernumerary extraocular muscles. Am J Ophthalmol (2010) 1.35
Intramuscular innervation of primate extraocular muscles: unique compartmentalization in horizontal recti. Invest Ophthalmol Vis Sci (2011) 1.28
Differential lateral rectus compartmental contraction during ocular counter-rolling. Invest Ophthalmol Vis Sci (2012) 1.25
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet (2007) 1.19
Evidence supporting extraocular muscle pulleys: refuting the platygean view of extraocular muscle mechanics. J Pediatr Ophthalmol Strabismus (2006) 1.17
Functional morphometry of horizontal rectus extraocular muscles during horizontal ocular duction. Invest Ophthalmol Vis Sci (2012) 1.16
Horizontal rectus muscle anatomy in naturally and artificially strabismic monkeys. Invest Ophthalmol Vis Sci (2007) 1.16
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci (2007) 1.15
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci (2010) 1.15
Microtubule-based localization of a synaptic calcium-signaling complex is required for left-right neuronal asymmetry in C. elegans. Development (2011) 1.11
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci (2007) 1.09
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron (2014) 1.05
Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci (2011) 1.00
Expanding repertoire in the oculomotor periphery: selective compartmental function in rectus extraocular muscles. Ann N Y Acad Sci (2011) 0.99
Optic Nerve Sheath as a Novel Mechanical Load on the Globe in Ocular Duction. Invest Ophthalmol Vis Sci (2016) 0.97
Responses of cells in the midbrain near-response area in monkeys with strabismus. Invest Ophthalmol Vis Sci (2012) 0.96
Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS (2008) 0.94
Compartmentalization of extraocular muscle function. Eye (Lond) (2014) 0.92
Importance of sagittal orbital imaging in evaluating extraocular muscle trauma following endoscopic sinus surgery. Br J Ophthalmol (2006) 0.92
Nonaneurysmal cranial nerve compression as cause of neuropathic strabismus: evidence from high-resolution magnetic resonance imaging. Am J Ophthalmol (2011) 0.91
Functional magnetic resonance imaging of horizontal rectus muscles in esotropia. J AAPOS (2013) 0.90
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol (2013) 0.89
Hypertropia in unilateral isolated abducens palsy. J AAPOS (2014) 0.89
Orbital magnetic resonance imaging of extraocular muscles in chronic progressive external ophthalmoplegia: specific diagnostic findings. J AAPOS (2006) 0.87
Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) (2011) 0.86
Bilateral abnormalities of optic nerve size and eye shape in unilateral amblyopia. Am J Ophthalmol (2009) 0.86
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis (2010) 0.85
High-resolution magnetic resonance imaging of the extraocular muscles and nerves demonstrates various etiologies of third nerve palsy. Am J Ophthalmol (2006) 0.84
Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci (2009) 0.84
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. Mol Vis (2011) 0.84
Extra-ocular muscle MRI in genetically-defined mitochondrial disease. Eur Radiol (2015) 0.79
Activated satellite cells in medial rectus muscles of patients with strabismus. Invest Ophthalmol Vis Sci (2008) 0.79
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. Mol Vis (2014) 0.79
Gillies Lecture: ocular motility in a time of paradigm shift. Clin Experiment Ophthalmol (2006) 0.78
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet (2009) 0.76
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. PLoS One (2015) 0.75
Anatomical diagnosis. Br J Ophthalmol (2006) 0.75
Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders. Korean J Ophthalmol (2017) 0.75
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Enhanced CD4+ T-cell recovery with earlier HIV-1 antiretroviral therapy. N Engl J Med (2013) 4.26
CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis via viral entry-independent mechanisms. Nat Immunol (2007) 3.31
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01
CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat Med (2008) 2.94
A 12-year, prospective study of extraocular muscle imaging in complex strabismus. J AAPOS (2002) 2.52
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet (2002) 2.47
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology (2011) 2.42
Two novel proteins activate superoxide generation by the NADPH oxidase NOX1. J Biol Chem (2002) 2.41
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet (2003) 2.23
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet (2005) 1.98
Discovery of distinct protein profiles specific for lung tumors and pre-malignant lung lesions by SELDI mass spectrometry. Lung Cancer (2003) 1.96
NOX enzymes as novel targets for drug development. Semin Immunopathol (2008) 1.90
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (2008) 1.84
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev (2011) 1.84
Small-molecule NOX inhibitors: ROS-generating NADPH oxidases as therapeutic targets. Antioxid Redox Signal (2009) 1.80
Active pulleys: magnetic resonance imaging of rectus muscle paths in tertiary gazes. Invest Ophthalmol Vis Sci (2002) 1.79
Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol (2011) 1.76
Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci (2007) 1.75
HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles. PLoS One (2008) 1.69
Evidence for a pulley of the inferior oblique muscle. Invest Ophthalmol Vis Sci (2003) 1.65
Incomitant strabismus associated with instability of rectus pulleys. Invest Ophthalmol Vis Sci (2002) 1.63
High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS (2006) 1.52
The Duffy-null state is associated with a survival advantage in leukopenic HIV-infected persons of African ancestry. Blood (2009) 1.51
Novel regulation of parkin function through c-Abl-mediated tyrosine phosphorylation: implications for Parkinson's disease. J Neurosci (2011) 1.45
NAD(P)H oxidases regulate HIF-2alpha protein expression. J Biol Chem (2007) 1.37
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci (2004) 1.36
Magnetic resonance imaging of human extraocular muscles during static ocular counter-rolling. J Neurophysiol (2005) 1.32
WNT1-inducible signaling pathway protein-1 activates diverse cell survival pathways and blocks doxorubicin-induced cardiomyocyte death. Cell Signal (2010) 1.28
Demonstration of systematic variation in human intraorbital optic nerve size by quantitative magnetic resonance imaging and histology. Invest Ophthalmol Vis Sci (2004) 1.25
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet (2012) 1.25
Computer-aided diagnosis of masses with full-field digital mammography. Acad Radiol (2002) 1.21
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet (2007) 1.19
Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron (2010) 1.17
Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. AIDS (2009) 1.17
The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A (2008) 1.16
Novel redox-dependent regulation of NOX5 by the tyrosine kinase c-Abl. Free Radic Biol Med (2007) 1.16
Role of CCL3L1-CCR5 genotypes in the epidemic spread of HIV-1 and evaluation of vaccine efficacy. PLoS One (2008) 1.15
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain (2013) 1.15
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Invest Ophthalmol Vis Sci (2007) 1.15
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci (2010) 1.15
Congenital fibrosis of the extraocular muscles. Semin Ophthalmol (2008) 1.12
Data mining techniques for cancer detection using serum proteomic profiling. Artif Intell Med (2004) 1.12
WISP1, a pro-mitogenic, pro-survival factor, mediates tumor necrosis factor-alpha (TNF-alpha)-stimulated cardiac fibroblast proliferation but inhibits TNF-alpha-induced cardiomyocyte death. J Biol Chem (2009) 1.12
Acute ataxia in childhood. J Child Neurol (2003) 1.12
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep (2010) 1.11
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet (2002) 1.11
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. Clin Infect Dis (2011) 1.09
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci (2007) 1.09
Development of a synthetic promoter for macrophage gene therapy. Hum Gene Ther (2006) 1.09
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Arch Ophthalmol (2005) 1.08
Macrophage-mediated GDNF delivery protects against dopaminergic neurodegeneration: a therapeutic strategy for Parkinson's disease. Mol Ther (2010) 1.07
CIKS (Act1 or TRAF3IP2) mediates Angiotensin-II-induced Interleukin-18 expression, and Nox2-dependent cardiomyocyte hypertrophy. J Mol Cell Cardiol (2012) 1.06
Reply to: "Experimental aspects of copy number variant assays at CCL3L1". Nat Med (2009) 1.03
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain (2006) 1.02
Regulation of phagocyte NADPH oxidase by hydrogen peroxide through a Ca(2+)/c-Abl signaling pathway. Free Radic Biol Med (2010) 1.02
CCL3L1-CCR5 genotype improves the assessment of AIDS Risk in HIV-1-infected individuals. PLoS One (2008) 1.02
New strabismus surgical techniques. J AAPOS (2013) 1.01
Human disorders of axon guidance. Curr Opin Neurobiol (2012) 1.01
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A (2010) 1.00
Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci (2011) 1.00
Expanding repertoire in the oculomotor periphery: selective compartmental function in rectus extraocular muscles. Ann N Y Acad Sci (2011) 0.99
NOX5 in human spermatozoa: expression, function, and regulation. J Biol Chem (2012) 0.98
Functional imaging of human extraocular muscles in head tilt dependent hypertropia. Invest Ophthalmol Vis Sci (2011) 0.98
Neuroprotective efficacy of a new brain-penetrating C-Abl inhibitor in a murine Parkinson's disease model. PLoS One (2013) 0.97
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet (2012) 0.96
Angiotensin II enhances AT1-Nox1 binding and stimulates arterial smooth muscle cell migration and proliferation through AT1, Nox1, and interleukin-18. Am J Physiol Heart Circ Physiol (2012) 0.96
Concordance of CCR5 genotypes that influence cell-mediated immunity and HIV-1 disease progression rates. J Infect Dis (2011) 0.96
Regulation of the estrogen receptor alpha minimal promoter by Sp1, USF-1 and ERalpha. Breast Cancer Res Treat (2004) 0.95
High-performance wavelet compression for mammography: localization response operating characteristic evaluation. Radiology (2006) 0.95
Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. J AAPOS (2008) 0.94
Regulation of NOX1 expression by GATA, HNF-1alpha, and Cdx transcription factors. Free Radic Biol Med (2007) 0.94
HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A (2006) 0.94
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol (2003) 0.93
Advanced oxidation protein products induce cardiomyocyte death via Nox2/Rac1/superoxide-dependent TRAF3IP2/JNK signaling. Free Radic Biol Med (2013) 0.92
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol (2013) 0.89
A systematic review and lessons learned from early lung cancer detection trials using low-dose computed tomography of the chest. Cancer Control (2003) 0.88
Elevation of one eye during tooth brushing. Am J Ophthalmol (2002) 0.87
Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet (2004) 0.86
Multiple PU.1 sites cooperate in the regulation of p40(phox) transcription during granulocytic differentiation of myeloid cells. Blood (2002) 0.86
Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol (2011) 0.85
Bone marrow-derived microglia-based neurturin delivery protects against dopaminergic neurodegeneration in a mouse model of Parkinson's disease. Neurosci Lett (2013) 0.85
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis (2010) 0.85
Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. J AAPOS (2009) 0.84
Synergistic divergence: a distinct ocular motility dysinnervation pattern. Invest Ophthalmol Vis Sci (2009) 0.84
Interleukin-18 suppresses adiponectin expression in 3T3-L1 adipocytes via a novel signal transduction pathway involving ERK1/2-dependent NFATc4 phosphorylation. J Biol Chem (2007) 0.84
Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? J Neurol (2011) 0.82
Improved interpretation of digitized mammography with wavelet processing: a localization response operating characteristic study. AJR Am J Roentgenol (2004) 0.81
Functional anatomy of the extraocular muscles during vergence. Prog Brain Res (2008) 0.81
Familial unilateral Brown syndrome. Ophthalmic Genet (2002) 0.81
NOX1 NADPH oxidase regulation by the NOXA1 SH3 domain. Free Radic Biol Med (2007) 0.81
Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD). Mol Vis (2011) 0.81
Role of tuberin in neuronal degeneration. Neurochem Res (2008) 0.80
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expr Patterns (2012) 0.79