Published in Cornea on July 01, 2011
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab (2010) 2.13
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest (2007) 1.80
Three-dimensional ultrasound biomicroscopy, environmental and conventional scanning electron microscopy investigations of the human zonula ciliaris for numerical modelling of accommodation. Graefes Arch Clin Exp Ophthalmol (2005) 1.77
Potentially accommodating intraocular lenses--an in vitro and in vivo study using three-dimensional high-frequency ultrasound. J Refract Surg (2005) 1.64
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. Folia Neuropathol (2012) 1.55
HMG box transcription factor TCF-4's interaction with CtBP1 controls the expression of the Wnt target Axin2/Conductin in human embryonic kidney cells. Nucleic Acids Res (2003) 1.49
An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy. Eur J Neurosci (2004) 1.43
In vivo confocal microscopy, an inner vision of the cornea - a major review. Clin Experiment Ophthalmol (2009) 1.43
Pharmacological-induced haptic changes and the accommodative performance in patients with the AT-45 accommodative IOL. J Refract Surg (2006) 1.42
Prevalence of stenoses and occlusions of brain-supplying arteries in young stroke patients. Neurology (2013) 1.42
HIC1 attenuates Wnt signaling by recruitment of TCF-4 and beta-catenin to the nuclear bodies. EMBO J (2006) 1.41
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke (2013) 1.25
Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for lipidation at cysteine and is essential for Wnt signalling. Cell Signal (2011) 1.24
In vivo confocal microscopic evaluation of Langerhans cell density and distribution in the normal human corneal epithelium. Graefes Arch Clin Exp Ophthalmol (2005) 1.21
In vivo confocal microscopic evaluation of langerhans cell density and distribution in the corneal epithelium of healthy volunteers and contact lens wearers. Cornea (2007) 1.18
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
In vivo confocal microscopy of the ocular surface. Ocul Surf (2006) 1.14
Imaging and quantification of subbasal nerve plexus in healthy volunteers and diabetic patients with or without retinopathy. PLoS One (2013) 1.14
Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study. Stroke (2012) 1.14
Spatially resolved Brillouin spectroscopy to determine the rheological properties of the eye lens. Biomed Opt Express (2011) 1.13
In vivo confocal laser scanning microscopy of the cornea in dry eye. Graefes Arch Clin Exp Ophthalmol (2006) 1.12
Epithelial innervation of human cornea: a three-dimensional study using confocal laser scanning fluorescence microscopy. Cornea (2005) 1.10
Cerebral amyloid-β proteostasis is regulated by the membrane transport protein ABCC1 in mice. J Clin Invest (2011) 1.10
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol (2002) 1.09
Monitoring accommodative ciliary muscle function using three-dimensional ultrasound. Graefes Arch Clin Exp Ophthalmol (2002) 1.09
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol (2007) 1.08
Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem (2007) 1.07
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep (2015) 1.05
Large patent median arteries and their relation to the superficial palmar arch with respect to history, size consideration and clinic consequences. Surg Radiol Anat (2007) 1.04
Rigid confocal endoscopy for in vivo imaging of experimental oral squamous intra-epithelial lesions. J Oral Pathol Med (2009) 1.04
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol (2013) 1.04
Image reconstruction of the subbasal nerve plexus with in vivo confocal microscopy. Invest Ophthalmol Vis Sci (2011) 1.03
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet (2014) 1.03
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). Neuroimage (2012) 1.01
Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells. Neurosci Lett (2010) 1.01
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet (2013) 1.00
Protection of neurons derived from human neural progenitor cells by veratridine. Neuroreport (2009) 1.00
2-DE proteome analysis of a proliferating and differentiating human neuronal stem cell line (ReNcell VM). Proteomics (2006) 1.00
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
Comparative in vivo confocal microscopical study of the cornea anatomy of different laboratory animals. Curr Eye Res (2010) 0.99
The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study. Graefes Arch Clin Exp Ophthalmol (2008) 0.99
Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells. Biomed Eng Online (2010) 0.98
Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat (2010) 0.98
Building sensory receptors on the tongue. J Neurocytol (2005) 0.97
Quantitative and kinetic profile of Wnt/β-catenin signaling components during human neural progenitor cell differentiation. Cell Mol Biol Lett (2011) 0.97
Imaging corneal crosslinking by autofluorescence 2-photon microscopy, second harmonic generation, and fluorescence lifetime measurements. J Cataract Refract Surg (2010) 0.97
Real-time mapping of the subepithelial nerve plexus by in vivo confocal laser scanning microscopy. Br J Ophthalmol (2010) 0.96
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. Hum Mutat (2002) 0.96
Rostro-caudal gradual loss of cellular diversity within the periventricular regions of the ventricular system. Stem Cells (2009) 0.95
Newborn screening for lysosomal storage disorders in hungary. JIMD Rep (2012) 0.94
Comparison of the accommodation theories of Coleman and of Helmholtz by finite element simulations. Vision Res (2005) 0.94
Orexinergic innervation of the extended amygdala and basal ganglia in the rat. Brain Struct Funct (2011) 0.94
A convenient approach for finite-element-analyses of orthopaedic implants in bone contact: modeling and experimental validation. Comput Methods Programs Biomed (2009) 0.94
Novel indolylmaleimide acts as GSK-3beta inhibitor in human neural progenitor cells. Bioorg Med Chem (2010) 0.94
Exposure patterns of UV filters, fragrances, parabens, phthalates, organochlor pesticides, PBDEs, and PCBs in human milk: correlation of UV filters with use of cosmetics. Chemosphere (2010) 0.93
Lifelong caloric restriction increases working memory in mice. PLoS One (2013) 0.92
Transscleral diode laser contact cyclophotocoagulation in the treatment of different glaucomas, also as primary surgery. Graefes Arch Clin Exp Ophthalmol (2002) 0.92
Intranasal administration of drugs. Arch Otolaryngol Head Neck Surg (2008) 0.92
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest (2014) 0.92
Differential astroglial activation in 6-hydroxydopamine models of Parkinson's disease. Neurosci Res (2008) 0.92
Structural-functional correlations of corneal innervation after LASIK and penetrating keratoplasty. J Refract Surg (2010) 0.91
Efferent projections of the anterior and posterodorsal regions of the medial nucleus of the amygdala in the mouse. Cells Tissues Organs (2009) 0.91
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum (2010) 0.91
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Clin Chim Acta (2002) 0.90
Deep brain stimulation in a rat model modulates TH, CaMKIIa and Homer1 gene expression. Eur J Neurosci (2007) 0.90
Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene. PLoS One (2013) 0.90
Medial canthal reconstruction by a modified glabellar flap. Ophthalmologica (2006) 0.90
Collagen cross-linking: current status and future directions. J Ophthalmol (2012) 0.89
2-DE profiling of GDNF overexpression-related proteome changes in differentiating ST14A rat progenitor cells. Proteomics (2007) 0.89
Differentiation of human neural progenitor cells regulated by Wnt-3a. Biochem Biophys Res Commun (2010) 0.89
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. PLoS One (2011) 0.89
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease. JIMD Rep (2012) 0.89
MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) Study. Neurology (2013) 0.89
Expression mapping of tetracycline-responsive prion protein promoter: digital atlasing for generating cell-specific disease models. Neuroimage (2006) 0.88
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition? J Child Neurol (2012) 0.88
A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3beta inhibitors. Org Biomol Chem (2010) 0.88
New aspects of liver abnormalities as part of the systemic mast cell activation syndrome. Liver Int (2008) 0.88
Variation in the hypothenar muscles and its impact on ulnar tunnel syndrome. Surg Radiol Anat (2013) 0.87
Olfactory mucosa in nasal polyposis: implications for FESS outcome. Rhinology (2010) 0.87
Confocal laser scanning microscopy for detection of Schistosoma mansoni eggs in the gut of mice. PLoS One (2011) 0.87
7.1 T MRI to assess the anterior segment of the eye. Invest Ophthalmol Vis Sci (2010) 0.87
Results of confocal microscopy examinations after collagen cross-linking with riboflavin and UVA light in patients with progressive keratoconus. Ophthalmologica (2010) 0.87
Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease. Hum Mol Genet (2005) 0.87