Arndt Rolfs

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation.

Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation.

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

Lymphocyte subpopulations, oxidative burst and apoptosis in peripheral blood cells of patients with multiple sclerosis-effect of interferon-beta.

Gene-expression profiling of the early stages of MOG-induced EAE proves EAE-resistance as an active process.

An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy.

Overexpression of glial cell line-derived neurotrophic factor induces genes regulating migration and differentiation of neuronal progenitor cells.

Wnt-5a expression in the rat neuronal progenitor cell line ST14A.

Neuromodulation by a cytokine: interferon-beta differentially augments neocortical neuronal activity and excitability.

Dopamine exerts no acute effects on Kv1.3 in activated encephalitogenic T cells.

Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease.

Representation of individual gene expression in completely pooled mRNA samples.

Functional significance of HCN2/3-mediated I(h) in striatal cells at early developmental stages.

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

2-DE proteome analysis of a proliferating and differentiating human neuronal stem cell line (ReNcell VM).

Ih is maturing: implications for neuronal development.

Wnt signal pathways and neural stem cell differentiation.

2-DE proteomic profiling of neuronal stem cells.

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

3-Hydroxy-3-methylglutaryl coenzyme A reductase inhibitor Atorvastatin mediated effects depend on the activation status of target cells in PLP-EAE.

2-DE profiling of GDNF overexpression-related proteome changes in differentiating ST14A rat progenitor cells.

Efferent connections of the parabigeminal nucleus to the amygdala and the superior colliculus in the rat: a double-labeling fluorescent retrograde tracing study.

Deep brain stimulation in a rat model modulates TH, CaMKIIa and Homer1 gene expression.

A rare manifestation of Fabry's disease.

Neurological and brain MRS findings in patients with Gaucher disease type 1.

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Efficient palladium-catalyzed synthesis of 3-aryl-4-indolylmaleimides.

Increasing extracellular potassium results in subthalamic neuron activity resembling that seen in a 6-hydroxydopamine lesion.

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

New aspects of liver abnormalities as part of the systemic mast cell activation syndrome.

Specific properties of sodium currents in multipotent striatal progenitor cells.

Differential astroglial activation in 6-hydroxydopamine models of Parkinson's disease.

In vitro characterization of embryionic ST14A-cells.

The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study.

Cadherin-20 expression by motor neurons is regulated by Sonic hedgehog during spinal cord development.

Efferent projections of the anterior and posterodorsal regions of the medial nucleus of the amygdala in the mouse.

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.

Interferon-beta modulates protein synthesis in the central nervous system.

Protection of neurons derived from human neural progenitor cells by veratridine.

Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.

A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3beta inhibitors.

Expression of seven members of the ADAM family in developing chicken spinal cord.

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Regional expression of the ADAMs in developing chicken cochlea.

Novel indolylmaleimide acts as GSK-3beta inhibitor in human neural progenitor cells.

Differentiation of human neural progenitor cells regulated by Wnt-3a.

Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells.

Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells.

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells.

Neuroproteomics in stem cell differentiation.

Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years.

Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients.

Persistent increase in cardiac troponin I in Fabry disease: a case report.

CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.

Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1.

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.

Amygdalotrigeminal projection in the rat: An anterograde tracing study.

Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.

Regional expression of ADAM19 during chicken embryonic development.

Differential expression of the ADAMs in developing chicken retina.

Quantitative and dynamic expression profile of premature and active forms of the regional ADAM proteins during chicken brain development.

Quantitative and kinetic profile of Wnt/β-catenin signaling components during human neural progenitor cell differentiation.

Human Neural Progenitor Cells Show Functional Neuronal Differentiation and Regional Preference After Engraftment onto Hippocampal Slice Cultures.

Orexinergic innervation of the extended amygdala and basal ganglia in the rat.

Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse.

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.

A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.

Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.

Expression patterns of ADAMs in the developing chicken lens.

ADAM17 overexpression promotes angiogenesis by increasing blood vessel sprouting and pericyte number during brain microvessel development.

Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice.

Kidney function and white matter disease in young stroke patients: analysis of the stroke in young fabry patients study population.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.