Arndt Rolfs

Summary

Affiliation: University of Rostock
Country: Germany

Publications

  1. ncbi Ih is maturing: implications for neuronal development
    Nino Rocha
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Rostock, Germany
    Neurodegener Dis 3:27-31. 2006
  2. ncbi Acute cerebrovascular disease in the young: the stroke in young fabry patients study
    Arndt Rolfs
    Albrecht Kossel Institute for Neuroregeneration, Medical Faculty, University of Rostock, Gehlsheimer St 20, 18147 Rostock, Germany
    Stroke 44:340-9. 2013
  3. ncbi Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
    Arndt Rolfs
    Department of Neurology, University of Rostock, Rostock, Germany
    Lancet 366:1794-6. 2005
  4. ncbi 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
    Arndt Rolfs
    Albrecht Kossel Institute for Neuroregeneration, Medical Faculty, University of Rostock, Gehlsheimerstrasse 20, Rostock, Germany
    Cerebrovasc Dis 31:253-62. 2011
  5. ncbi Wnt-5a expression in the rat neuronal progenitor cell line ST14A
    Sabine Peters
    Department of Neurology, University of Rostock, PO Box 100888, 18055 Rostock, Germany
    Exp Brain Res 158:189-95. 2004
  6. ncbi Interferon-beta modulates protein synthesis in the central nervous system
    Susanne Beyer
    Dept of Neurology, University of Rostock, Gehlsheimer Str 20, 18147 Rostock, Germany
    J Neuroimmunol 213:31-8. 2009
  7. ncbi Differential astroglial activation in 6-hydroxydopamine models of Parkinson's disease
    Jeannette Henning
    Department of Neurology, University of Rostock, Germany
    Neurosci Res 62:246-53. 2008
  8. ncbi Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease
    Marine Hovakimyan
    Department of Ophthalmology, University of Rostock, Rostock, Germany
    PLoS ONE 6:e28418. 2011
  9. ncbi Novel indolylmaleimide acts as GSK-3beta inhibitor in human neural progenitor cells
    Anne Caroline Schmöle
    Albrecht Kossel Institute for Neuroregeneration AKos, Center for Mental Health, University of Rostock, Gehlsheimer Str 20, D 18147 Rostock, Germany
    Bioorg Med Chem 18:6785-95. 2010
  10. ncbi Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells
    Christian Lange
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Germany
    Neurosci Lett 488:36-40. 2011

Collaborators

Detail Information

Publications64

  1. ncbi Ih is maturing: implications for neuronal development
    Nino Rocha
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Rostock, Germany
    Neurodegener Dis 3:27-31. 2006
    ..Further, it outlines hypotheses on the contribution of Ih to neuronal and network maturation...
  2. ncbi Acute cerebrovascular disease in the young: the stroke in young fabry patients study
    Arndt Rolfs
    Albrecht Kossel Institute for Neuroregeneration, Medical Faculty, University of Rostock, Gehlsheimer St 20, 18147 Rostock, Germany
    Stroke 44:340-9. 2013
    ..We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients...
  3. ncbi Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
    Arndt Rolfs
    Department of Neurology, University of Rostock, Rostock, Germany
    Lancet 366:1794-6. 2005
    ..To determine the importance of Fabry disease in young people with stroke, we measured the frequency of unrecognised Fabry disease in a cohort of acute stroke patients...
  4. ncbi 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
    Arndt Rolfs
    Albrecht Kossel Institute for Neuroregeneration, Medical Faculty, University of Rostock, Gehlsheimerstrasse 20, Rostock, Germany
    Cerebrovasc Dis 31:253-62. 2011
    ..The primary aim of our study was to determine the prevalence of Fabry disease in young stroke patients, while the secondary aim was to describe patterns of stroke in young patients...
  5. ncbi Wnt-5a expression in the rat neuronal progenitor cell line ST14A
    Sabine Peters
    Department of Neurology, University of Rostock, PO Box 100888, 18055 Rostock, Germany
    Exp Brain Res 158:189-95. 2004
    ..However, they raise the possibility that neuronal progenitor cells that might be used to treat neurodegenerative diseases express Wnt-5a, thus promoting their potential for dopaminergic differentiation...
  6. ncbi Interferon-beta modulates protein synthesis in the central nervous system
    Susanne Beyer
    Dept of Neurology, University of Rostock, Gehlsheimer Str 20, 18147 Rostock, Germany
    J Neuroimmunol 213:31-8. 2009
    ..This study presents novel effects of IFN-beta in the central nervous system and begins to unravel the mechanism behind the known excitability changes in neurons...
  7. ncbi Differential astroglial activation in 6-hydroxydopamine models of Parkinson's disease
    Jeannette Henning
    Department of Neurology, University of Rostock, Germany
    Neurosci Res 62:246-53. 2008
    ....
  8. ncbi Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease
    Marine Hovakimyan
    Department of Ophthalmology, University of Rostock, Rostock, Germany
    PLoS ONE 6:e28418. 2011
    ..The purpose of the present study was to clarify if these inclusions regress during combined substrate reduction- and by-product therapy (SRT and BPT)...
  9. ncbi Novel indolylmaleimide acts as GSK-3beta inhibitor in human neural progenitor cells
    Anne Caroline Schmöle
    Albrecht Kossel Institute for Neuroregeneration AKos, Center for Mental Health, University of Rostock, Gehlsheimer Str 20, D 18147 Rostock, Germany
    Bioorg Med Chem 18:6785-95. 2010
    ..Therefore we conclude that indolylmaleimides act via the canonical Wnt signalling pathway by inhibition of the key enzyme GSK-3beta...
  10. ncbi Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells
    Christian Lange
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Germany
    Neurosci Lett 488:36-40. 2011
    ..Small molecule inhibitors of GSK-3 enhance neurogenesis of human neural progenitor cells and may be used to direct the differentiation of neural stem and progenitor cells in therapeutic applications...
  11. ncbi Gene-expression profiling of the early stages of MOG-induced EAE proves EAE-resistance as an active process
    Eilhard Mix
    Department of Neurology, University of Rostock, Gehlsheimer Str 20, Rostock D 18055, Germany
    J Neuroimmunol 151:158-70. 2004
    ..Thus, monitoring of the expression of these new candidate genes may serve as a tool for the disease progression and the pharmaceutical treatment...
  12. ncbi Increasing extracellular potassium results in subthalamic neuron activity resembling that seen in a 6-hydroxydopamine lesion
    Ulf Strauss
    Neurobiology, Department of Neurology, University of Rostock, Rostock, Germany
    J Neurophysiol 99:2902-15. 2008
    ..Our data suggest that changed potassium sensitivity due to conductivity alterations and delayed clearance may be critical for shaping STN activity in parkinsonian states...
  13. ncbi Deep brain stimulation in a rat model modulates TH, CaMKIIa and Homer1 gene expression
    Jeannette Henning
    Department of Neurology, University of Rostock, Gehlsheimer Str 20, 18147 Rostock, Germany
    Eur J Neurosci 25:239-50. 2007
    ..Furthermore, a downregulation of calcium/calmodulin-dependent protein kinase type IIA and Homer1 was observed. This downregulation could result in a reduced sensitivity towards glutamate in basal ganglia downstream of STN...
  14. ncbi 3-Hydroxy-3-methylglutaryl coenzyme A reductase inhibitor Atorvastatin mediated effects depend on the activation status of target cells in PLP-EAE
    Eilhard Mix
    Department of Neurology, University of Rostock, Gehlsheimer Str 20, D 18147 Rostock, Germany
    J Autoimmun 27:251-65. 2006
    ..Monitoring of expression of the newly identified candidate genes and patterns of lymphocyte subpopulations might predict the responsiveness of multiple sclerosis patients to statin treatment...
  15. ncbi Functional significance of HCN2/3-mediated I(h) in striatal cells at early developmental stages
    Rika Bajorat
    Neurobiological Laboratory, Clinic for Neurology, University of Rostock, Rostock, Germany
    J Neurosci Res 82:206-13. 2005
    ..These results suggest the potential importance of ST14A cells in defining the molecular mechanisms regulating I(h) expression and function...
  16. ncbi Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation
    Tobias Böttcher
    Department of Neurology, University of Rostock, Rostock, Germany
    J Neurosci Res 73:42-53. 2003
    ..g., of Huntington's disease...
  17. ncbi Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse
    Xin Yan
    Albrecht Kossel Institute for Neuroregeneration, School of Medicine, University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany
    Metab Brain Dis 26:299-306. 2011
    ....
  18. ncbi In vitro characterization of embryionic ST14A-cells
    Marine Hovakimyan
    Institute of Anatomy, University of Rostock, Rostock, Germany
    Int J Neurosci 118:1489-501. 2008
    ..In serum-free medium the process of neuronal differentiation became more obvious, indicating the potential to use these cells for experimental restorative therapies...
  19. ncbi Specific properties of sodium currents in multipotent striatal progenitor cells
    Ulrike Wasner
    Department of Neurology, University of Rostock, Rostock, Germany
    Eur J Neurosci 28:1068-79. 2008
    ..We conclude that multipotent neural progenitor cells express Na(+) channels in their membrane irrespective of their fate but these channels have little effect due to their subunit composition, which is regulated by alternative splicing...
  20. ncbi Quantitative and kinetic profile of Wnt/β-catenin signaling components during human neural progenitor cell differentiation
    Orianne Mazemondet
    Albrecht Kossel Institute for Neuroregeneration, Centre for Mental Health Disease, University of Rostock, Gehlsheimer Strasse 20, 18147, Rostock, Germany
    Cell Mol Biol Lett 16:515-38. 2011
    ..This detailed temporal profile of the Wnt/β-catenin pathway is a first step to understand, control and to orientate, in vitro, human neural progenitor cell differentiation...
  21. ncbi 2-DE profiling of GDNF overexpression-related proteome changes in differentiating ST14A rat progenitor cells
    Raimund Hoffrogge
    Department of Neurology, Medical Faculty, Neurobiological Laboratory, University of Rostock, Rostock, Germany
    Proteomics 7:33-46. 2007
    ..The results reflect the large rearrangements of the proteome during the differentiation process of NPCs and their strong modification by neurotrophic factors like GDNF...
  22. ncbi Human neural progenitor cells show functional neuronal differentiation and regional preference after engraftment onto hippocampal slice cultures
    Peter J Morgan
    Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany
    Stem Cells Dev 21:1501-12. 2012
    ....
  23. ncbi Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells
    Anne Katrin Giese
    Albrecht Kossel Institute for Neuroregeneration, Centre for Mental Health Disease, University of Rostock, Germany
    BMC Cell Biol 11:94. 2010
    ..In the present study, we explored the impact of lowered oxygen on the differentiation potential of human neural progenitor cells, and the role of erythropoietin in the differentiation process...
  24. ncbi Elucidating the sources of β-catenin dynamics in human neural progenitor cells
    Orianne Mazemondet
    Modelling and Simulation Group, Institute of Computer Science, University of Rostock, Rostock, Germany
    PLoS ONE 7:e42792. 2012
    ..We further report on significant stochastic effects that directly result from model parameters provided in literature and contradict experimental observations...
  25. ncbi Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells
    Stefanie Ortinau
    Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Gehlsheimerstrasse 20, 18147 Rostock, Germany
    Biomed Eng Online 9:70. 2010
    ....
  26. ncbi Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice
    Yosef Avchalumov
    Oscar Langendorff Institute of Physiology, University of Rostock, Germany
    Brain Res 1444:20-6. 2012
    ..However, neocortical excitability was significantly enhanced while LTP was abolished. These results suggest that at least in the somatosensory neocortex NPC1 protein is instrumental in synaptic function...
  27. ncbi Expression patterns of ADAMs in the developing chicken lens
    Xin Yan
    Albrecht Kossel Institute for Neuroregeneration, School of Medicine University of Rostock, Gehlsheimer Strasse 20, 18147, Rostock, Germany
    J Mol Histol 43:121-35. 2012
    ..At E16, only weak ADAM9, ADAM10 and ADAM17 signals are found in the anterior lens epithelium. The changing spatiotemporal expression of the seven ADAMs suggests a regulatory role for these molecules during chicken lens development...
  28. ncbi Quantitative and dynamic expression profile of premature and active forms of the regional ADAM proteins during chicken brain development
    Annett Markus
    Albrecht Kossel Institute for Neuroregeneration, Centre for Mental Health Disease, University of Rostock, Gehlsheimer Strasse 20, 18147, Rostock, Germany
    Cell Mol Biol Lett 16:431-51. 2011
    ....
  29. ncbi Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Neuroimage 62:1354-66. 2012
    ....
  30. ncbi Dopamine exerts no acute effects on Kv1.3 in activated encephalitogenic T cells
    Ulf Strauss
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Rostock, Germany
    Neuroimmunomodulation 12:45-53. 2005
    ..Nevertheless, care should be taken when using the dopamine-protecting anti-oxidant ascorbic acid, since we found that it markedly inhibited both K+ currents and lymphocyte proliferation at higher concentrations...
  31. ncbi 2-DE proteome analysis of a proliferating and differentiating human neuronal stem cell line (ReNcell VM)
    Raimund Hoffrogge
    Neurobiological Laboratory, Department of Neurology, Medical Faculty, University of Rostock, Germany
    Proteomics 6:1833-47. 2006
    ....
  32. ncbi Differentiation of human neural progenitor cells regulated by Wnt-3a
    Rayk Hübner
    Albrecht Kossel Institute for Neuroregeneration AKos, School of Medicine, University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany
    Biochem Biophys Res Commun 400:358-62. 2010
    ..Thus, our data suggest that neurogenesis induced by Wnt-3a is independent of the transcriptional activity of Wnt/β-catenin pathway in ReNcell VM cells...
  33. ncbi An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy
    Ulf Strauss
    Department of Neurology, University Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany
    Eur J Neurosci 19:3048-58. 2004
    ..We suggest that the deficit in Ih-mediated functions may contribute to the development and onset of spontaneously occurring hyperexcitability in a rat model of absence seizures...
  34. ncbi Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1
    Marine Hovakimyan
    Department of Ophthalmology, University of Rostock, Rostock, Germany
    Cornea 30:796-803. 2011
    ..A knockout mouse model (NPC1) is an important tool for the study of pathogenesis and treatment strategies. In the present study, NPC1 mice were examined for pathological changes in the cornea...
  35. ncbi Differential expression of the ADAMs in developing chicken retina
    Xin Yan
    Albrecht Kossel Institute for Neuroregeneration, School of Medicine University of Rostock, D 18147 Rostock, Germany
    Dev Growth Differ 53:726-39. 2011
    ..Therefore, the differential expression of the investigated ADAMs in the developing retina suggests the contribution of them to the retina development...
  36. ncbi Protection of neurons derived from human neural progenitor cells by veratridine
    Peter J Morgan
    Albrecht Kossel Institute for Neuroregeneration AKos, Centre for Mental Health Diseases, University of Rostock, Gehlsheimer Strasse, Rostock, Germany
    Neuroreport 20:1225-9. 2009
    ..Our results show that veratridine is neuroprotective in human fetal neural progenitor cells, which may benefit studies investigating neuronal development by reducing premature death amongst developing neurons...
  37. ncbi Neuromodulation by a cytokine: interferon-beta differentially augments neocortical neuronal activity and excitability
    Gergana Hadjilambreva
    Department of Neurology, Neurobiological Laboratory, University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany
    J Neurophysiol 93:843-52. 2005
    ....
  38. ncbi Representation of individual gene expression in completely pooled mRNA samples
    Anne Glass
    Institute for Medical Informatics and Biometry, University of Rostock, Medical Faculty, Germany
    Biosci Biotechnol Biochem 69:1098-103. 2005
    ..Our analysis reveals problems in cases of small complete pooling designs with less than six subjects pooled...
  39. ncbi Wnt signal pathways and neural stem cell differentiation
    Christian Lange
    Department of Neurology, University of Rostock, Rostock, Germany
    Neurodegener Dis 3:76-86. 2006
    ....
  40. ncbi CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Aachen, Germany
    PLoS ONE 6:e15125. 2011
    ..Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17)...
  41. ncbi Small molecules in stem cell research
    Anne Caroline Schmöle
    Albrecht Kossel Institute for Neuroregeneration, Centre for Mental Health Diseases, University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany
    Curr Pharm Biotechnol 14:36-45. 2013
    ..In this review we will present the recent progress on the use of small molecules in embryonic and induced pluripotent stem cell research. In the final section we will give a short summary of the clinical approaches using these cells...
  42. ncbi Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study
    Bettina von Sarnowski
    Department of Neurology, University Medicine, Ferdinand Sauerbruch Straße, D 17475 Greifswald, Germany
    Stroke 44:119-25. 2013
    ..Although many stroke patients are young or middle-aged, risk factor profiles in these age groups are poorly understood...
  43. ncbi Regional expression of ADAM19 during chicken embryonic development
    Xin Yan
    Albrecht Kossel Institute for Neuroregeneration, School of Medicine University of Rostock, Gehlsheimer Strasse 20, D 18147 Rostock, Germany
    Dev Growth Differ 53:333-46. 2011
    ..All these data suggest that ADAM19 plays an important role in the embryonic development of chicken...
  44. ncbi 2-DE proteomic profiling of neuronal stem cells
    Raimund Hoffrogge
    Neurobiological Laboratory, Department of Neurology, Medical Faculty, Rostock, Germany
    Neurodegener Dis 3:112-21. 2006
    ....
  45. ncbi Cadherin-20 expression by motor neurons is regulated by Sonic hedgehog during spinal cord development
    Jiankai Luo
    Institute of Anatomy I, Friedrich Schiller University Jena, Germany
    Neuroreport 20:365-70. 2009
    ..Blockage of Shh signaling inhibits cadherin-20 expression in the motor column. Therefore, cadherin-20 expression in motor neurons is regulated by Shh in a time-dependent manner...
  46. ncbi Persistent increase in cardiac troponin I in Fabry disease: a case report
    Christian Tanislav
    Department of Neurology, Justus Liebig University, Giessen, Germany
    BMC Cardiovasc Disord 11:6. 2011
    ..In diagnosing acute myocardial infarction cTNI is considered the most reliable parameter...
  47. ncbi Orexinergic innervation of the extended amygdala and basal ganglia in the rat
    Oliver Schmitt
    Institute of Anatomy, University of Rostock, P O Box 100888, 18055, Rostock, Germany
    Brain Struct Funct 217:233-56. 2012
    ..These results suggest that subdivisions and subnuclei of the extended amygdala are specific targets of the orexinergic system...
  48. ncbi Neuroproteomics in stem cell differentiation
    Susanne Beyer
    Neurobiological Laboratory, Department of Neurology, Medical Faculty, University of Rostock, Rostock, Germany
    Proteomics Clin Appl 1:1513-23. 2007
    ..This review gives also an outlook on technical improvements and perspectives of application of neural stem cell proteomics...
  49. ncbi Lymphocyte subpopulations, oxidative burst and apoptosis in peripheral blood cells of patients with multiple sclerosis-effect of interferon-beta
    Eilhard Mix
    Department of Neurology, University of Rostock, Gehlsheimer Str 20, P O Box 100888, 18055 Rostock, Germany
    Autoimmunity 36:291-305. 2003
    ..Re-examination of the altered blood cell parameters after long-term IFN-beta therapy is warranted...
  50. ncbi Regional expression of the ADAMs in developing chicken cochlea
    Xin Yan
    Albrecht Kossel Institute for Neuroregeneration, School of Medicine, University of Rostock, D 18147 Rostock, Germany
    Dev Dyn 239:2256-65. 2010
    ..The expression of the ADAMs in the developing cochlea suggests a contribution of the ADAMs to the development of distinct cochlear structures...
  51. ncbi Cultivation of Human Neural Progenitor Cells in a 3-dimensional Self-assembling Peptide Hydrogel
    Andrea Liedmann
    Albrecht Kossel Institute for Neuroregeneration, University of Rostock
    J Vis Exp . 2012
    ..g. immunocytochemical studies and subsequently analysed by flow cytometry. This speeds up the analysis and more over, the obtained data rest upon a wider base, improving the reliability of the data...
  52. ncbi Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease
    Ignacio Mazón Peláez
    Department of Immunology, University of Rostock, Germany
    Hum Mol Genet 14:1977-89. 2005
    ..There were no alterations in the morphological appearance of the myelin sheaths. Our findings suggest a possible role of myelin composition and/or synaptic transmission in susceptibility to EAE...
  53. ncbi A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3beta inhibitors
    Anahit Pews-Davtyan
    Leibniz Institut fur Katalyse e V an der Universitat Rostock, Albert Einstein Str 29a, D 18059, Rostock, Germany
    Org Biomol Chem 8:1149-53. 2010
    ..3-Amidoindoles were synthesized from commercially available arylhydrazines and propargylamines over Zn-salt mediated one pot procedure in excellent regioselectivity and up to 94% yield...
  54. ncbi Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation
    Sabine Weinelt
    Neurobiological Laboratory, Department of Neurology, University of Rostock, Rostock, Germany
    J Neurosci Res 71:228-36. 2003
    ....
  55. ncbi Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Germany
    Cerebellum 9:210-7. 2010
    ....
  56. ncbi Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    Arndt Rolfs
    Department of Neurology, University of Rostock, Rostock, Germany
    Ann Neurol 54:367-75. 2003
    ..Based on clinical and genetic data, we conclude that SCA17 is rare among white SCA patients. SCA17 should be considered in sporadic and familial cases of ataxia with accompanying psychiatric symptoms and dementia...
  57. ncbi Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis
    Christoph Munch
    Department of Neurology, Jewish Hospital Berlin, Berlin, Germany
    Amyotroph Lateral Scler 9:251-3. 2008
    ..This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor neuron disorders including ALS...
  58. ncbi The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study
    Karen Falke
    Department of Ophthalmology, University of Rostock, Rostock, Germany
    Graefes Arch Clin Exp Ophthalmol 247:523-34. 2009
    ..The purpose of this study is to describe cornea verticillata in Fabry disease and in amiodarone-induced keratopathy and to compare the corneal microstructure of both types...
  59. ncbi NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes
    Peter Bauer
    Universitat Rostock, Klinik für Neurologie und Poliklinik, Neurobiologisches Labor, Rostock, Germany
    Hum Mutat 19:30-8. 2002
    ..007; 2-sided Fisher exact test) suggesting the possibility of an influence of the haplotypic background on expression of missense mutations in NPC1...
  60. ncbi Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy
    Rolf Schroder
    Department of Neurology, University of Bonn, Germany
    J Neuropathol Exp Neurol 61:520-30. 2002
    ..Beyond EBS-MD, our data may contribute to the understanding of other myopathies characterized by sarcoplasmic IF accumulations such as desminopathies or alpha-B-crystallinopathies...
  61. ncbi Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease
    Klaus Harzer
    Institut für Hirnforschung, Universitat Tubingen, Calwer Strasse 3, D 72076, Tubingen, Germany
    Clin Chim Acta 317:77-84. 2002
    ..About 90% of GLD patients have an infantile course by fatal cerebral demyelination, but 10% have a later onset (LOGLD) of symptoms and survive for one or several decades...
  62. ncbi Efferent connections of the parabigeminal nucleus to the amygdala and the superior colliculus in the rat: a double-labeling fluorescent retrograde tracing study
    Kamen G Usunoff
    Department of Anatomy and Histology, Faculty of Medicine, Medical University, Sofia 1431, Bulgaria
    Brain Res 1133:87-91. 2007
    ..The ipsilateral projections arise from separate cell populations, whilst the contralaterally projecting Pbg neurons emit branching axons that simultaneously innervate Am and SC...
  63. ncbi Overexpression of glial cell line-derived neurotrophic factor induces genes regulating migration and differentiation of neuronal progenitor cells
    Jens Pahnke
    Department of Pathology, University Hospital Zurich, Switzerland
    Exp Cell Res 297:484-94. 2004
    ..Many proteins are anchored by farnesyl-derivates at the cell membrane. The identification of these GDNF-regulated genes may open new opportunities for directly influencing differentiation and developmental processes of neurons...
  64. ncbi A rare manifestation of Fabry's disease
    Zsanett Fricska Nagy
    Swiss Med Wkly 137:130. 2007