Jahr
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Titel der Publikation
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Publikationsart
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Publikationsform
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2011
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Zystein-aussparende Mutationen bei atypischen CADASIL Varianten - ein neues Krankheitsbild ? |
Dissertationsschrift
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Elektronische Ressource
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2011
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Zystein-aussparende Mutationen bei atypischen CADASIL Varianten - ein neues Krankheitsbild ? |
Dissertationsschrift
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Druckschrift
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2011
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Einfluss von Interferon-b auf den hyperpolarisationsaktivierten nicht-selektiven Kationen-Strom Ih |
Dissertationsschrift
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Druckschrift
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2012
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Besonderheiten des Natriumionenstromes multipotenter striataler Progenitorzellen |
Dissertationsschrift
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Druckschrift
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2014
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Generierung, Charakterisierung und neurale Differenzierung von humanen induzierten pluripotenten Stammzellen |
Dissertationsschrift
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Druckschrift
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2014
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Die antineoplastische Potenz des Indolylmaleimids PDA66 |
Dissertationsschrift
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Elektronische Ressource
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2014
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Die antineoplastische Potenz des Indolylmaleimids PDA66 |
Dissertationsschrift
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Druckschrift
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2014
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Generierung, Charakterisierung und neurale Differenzierung von humanen induzierten pluripotenten Stammzellen |
Dissertationsschrift
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Elektronische Ressource
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2013
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Differentiation and survival of human neural progenitor cells in 3D scaffolds of self-assembling peptide hydrogels |
Dissertationsschrift
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Druckschrift
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2013
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Differentiation and survival of human neural progenitor cells in 3D scaffolds of self-assembling peptide hydrogels |
Dissertationsschrift
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Elektronische Ressource
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2018
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Effects of group I metabotropic glutamate receptors on internalization of AMPA receptors in NPC1 mutant mouse |
Dissertationsschrift
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Druckschrift
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2018
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Sensorbasiertes Monitoring bei Alzheimer-Demenz |
Dissertationsschrift
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Druckschrift
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2018
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Sensorbasiertes Monitoring bei Alzheimer-Demenz |
Dissertationsschrift
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Elektronische Ressource
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2010
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Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults: Brain and development : official journal of the Japanese Society of Child Neurology. - Amsterdam [u.a.] : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2010
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Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis: Clinical genetics : an international journal of genetics in medicine. - Oxford : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2010
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A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3ß inhibitors: Organic & biomolecular chemistry : OBC ; an international journal of synthetic, physical and biomolecular organic chemistry. - Cambridge : RSC |
Zeitschriftenartikel
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Druckschrift
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2010
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Design and validation of a metabolic disorder resequencing microarray (BRUM1): Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2010
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Regional expression of the ADAMs in developing chicken cochlea: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss |
Zeitschriftenartikel
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Druckschrift
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2010
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Differentiation of human neural progenitor cells regulated by Wnt-3a: Biochemical and biophysical research communications : BBRC. - San Diego, Calif : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2011
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Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells: Neuroscience letters. - Amsterdam : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2010
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Molecular characterization and expression analysis of ADAM12 during chicken embryonic development: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia |
Zeitschriftenartikel
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Druckschrift
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2011
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Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT): Molecular genetics and metabolism. - Amsterdam [u.a.] : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2011
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Persistent increase in cardiac troponin I in Fabry disease: BMC cardiovascular disorders, ISSN 1471-2261, ZDB-ID 2059859-2. - London : BioMed Central |
Zeitschriftenartikel
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Elektronische Ressource
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2011
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Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science |
Zeitschriftenartikel
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Druckschrift
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2011
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Morphological alterations of the cornea in the mouse model of niemann-pick disease type C1: Cornea : the journal of cornea and external disease. - Hagerstown, Md. : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2011
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Differential expression of the ADAMs in developing chicken retina: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia |
Zeitschriftenartikel
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Druckschrift
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2011
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Quantitative and dynamic expression profile of premature and active forms of the regional ADAM proteins during chicken brain development: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - Warsaw : Versita |
Zeitschriftenartikel
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Druckschrift
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2011
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Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse: Metabolic brain disease. - New York, NY : Springer |
Zeitschriftenartikel
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Druckschrift
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2012
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Cultivation of human neural progenitor cells in a 3-dimensional self-assembling peptide hydrogel: JoVE, ISSN 1940-087X, ZDB-ID 2259946-0. - [S.l.] |
Zeitschriftenartikel
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Elektronische Ressource
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2012
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Orexinergic innervation of the extended amygdale and basal ganglia in the rat: Brain structure & function. - Berlin : Springer |
Zeitschriftenartikel
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Druckschrift
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2012
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Anatomical expression patterns of delta-protocadherins in developing chicken cochlea: Journal of anatomy. - Oxford : Blackwell |
Zeitschriftenartikel
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Druckschrift
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2013
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Glucocerebrosidase mutations in a Serbian Parkinson's disease population: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science |
Zeitschriftenartikel
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Druckschrift
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2013
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Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the stroke in Young Fabry Patients study: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2013
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Acute cerebrovascular disease in the young: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2010
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Das Nervensystem als biologisches regeneratives System: Traditio et innovatio : Forschungsmagazin der Universität Rostock. - Rostock : Univ., Der Rektor |
Zeitschriftenartikel
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Druckschrift
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2010
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Das Graduiertenkolleg dIEM oSiRiS: Traditio et innovatio : Forschungsmagazin der Universität Rostock. - Rostock : Univ., Der Rektor |
Zeitschriftenartikel
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Druckschrift
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2010
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Expression of seven members of the ADAM family in developing chicken spinal cord: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss |
Zeitschriftenartikel
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Druckschrift
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2010
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Novel indolylmaleimide acts as GSK-3b inhibitor in human neural progenitor cells: Bioorganic & medicinal chemistry : a Tetrahedron publication for the rapid dissemination of full original research papers and critical reviews on biomolecular chemistry, medicinal chemistry and related disciplines. - Amsterdam [u.a.] : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2011
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CAG repeats determine brain atrophy in spinocerebellar ataxia 17: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2011
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Hereditary spastic paraplegia associated with axonal neuropathy: Journal of clinical neuromuscular disease. - Hagerstown, Md. : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2011
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Amygdalotrigeminal projection in the rat: Annals of anatomy : official organ of the Anatomische Gesellschaft. - München : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2011
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Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation: European journal of paediatric neurology : official journal of the European Paediatric Neurology Society ; ejpn. - Oxford [u.a.] : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2011
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Regional expression of ADAM19 during chicken embryonic development: Development, growth & differentiation. - Richmond, Vic. : Blackwell Publ. Asia |
Zeitschriftenartikel
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Druckschrift
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2011
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Differential regional expression of multiple ADAMs during feather bud formation: Developmental dynamics : an official publication of the American Association of Anatomists. - New York, NY [u.a.] : Wiley-Liss |
Zeitschriftenartikel
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Druckschrift
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2011
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An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech: Movement disorders : official journal of the Movement Disorder Society. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2011
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Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2012
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A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype: Acta paediatrica : nurturing the child. - Oxford : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2011
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Quantitative and kinetic profile of Wnt/b-catenin signaling components during human neural progenitor cell differentiation: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - Warsaw : Versita |
Zeitschriftenartikel
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Druckschrift
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2012
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Increased excitability and compromised long-term potentiation in the neocortex of NPC1 -/- mice: Brain research : internat. multidisciplinary journal devoted to fundamental research in the brain sciences. - Amsterdam : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2012
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Human neural progenitor cells show functional neuronal differentiation and regional preference after engraftment onto hippocampal slice cultures: Stem cells and development. - Larchmont, NY : Liebert |
Zeitschriftenartikel
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Druckschrift
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2012
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PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17: Journal of nuclear medicine : JNM ; official publ. of the Society of Nuclear Medicine. - Reston, Va. : SNM |
Zeitschriftenartikel
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Druckschrift
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2012
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Autosomal dominant Parkinson's disease in a large German pedigree: Acta neurologica Scandinavica. - Oxford : Blackwell Munksgaard |
Zeitschriftenartikel
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Druckschrift
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2012
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Survival of transplanted human neural stem cell line (ReNcell VM) into the rat brain with and without immunosuppression: Annals of anatomy : official organ of the Anatomische Gesellschaft. - München : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2012
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Kidney function and white matter disease in young stroke patients: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2012
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Elucidating the sources of b-catenin dynamics in human neural progenitor cells: PLoS one, ISSN 1932-6203, ZDB-ID 2267670-3. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2012
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Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene: Clinical kidney journal : CKJ ; official publication of the European Renal Association, European Dialysis and Transplant Association. - Oxford [u.a.] : Oxford Univ. Press |
Zeitschriftenartikel
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Druckschrift
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2012
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Comparison of three forms of teaching: International journal of dental hygiene : official journal of the International Federation of Dental Hygienists (IFDH). - Frederiksberg : Wiley |
Zeitschriftenartikel
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Druckschrift
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2013
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Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A Gene: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2012
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Diagnostic difficulties in Krabbe disease: Folia neuropathologica. - Warszawa : Medical Publ. House |
Zeitschriftenartikel
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Druckschrift
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2013
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Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2013
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Spontaneous calcium transients in human neural progenitor cells mediated by transient receptor potential channels: Stem cells and development. - Larchmont, NY : Liebert |
Zeitschriftenartikel
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Druckschrift
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2013
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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease: PLoS Genetics : a peer-reviewed, open-access journal. - San Francisco, Calif : Public Library of Science |
Zeitschriftenartikel
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Elektronische Ressource
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2013
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Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "stroke in young fabry patients (SIFAP1) study": Journal of neural transmission : basic neurosciences and genetics, Parkinson's disease and allied conditions, Alzheimer's disease and related disorders, biological psychiatry ; official journal of the European Society for Clinical Neuropharmacology. - Wien [u.a.] : Springer |
Zeitschriftenartikel
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Druckschrift
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2013
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Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia: Journal of neurology : official journal of the European Neurological Society. - Heidelberg : Springer-Medizin-Verl |
Zeitschriftenartikel
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Druckschrift
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2013
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Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease: Journal of neurology : official journal of the European Neurological Society. - Heidelberg : Springer-Medizin-Verl |
Zeitschriftenartikel
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Druckschrift
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2013
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Novel mutations in FA2H-Associated neurodegeneration: Journal of child neurology : JCN ; an interdisciplinary forum for child neurology and developmental. - Thousand Oaks, Calif : Sage |
Zeitschriftenartikel
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Druckschrift
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2013
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Infusionsbehandlung in häuslicher Umgebung: Deutsche medizinische Wochenschrift : DMW : Organ der Deutschen Gesellschaft für Innere Medizin (DGIM) : Organ der Gesellschaft Deutscher Naturforscher und Ärzte (GDNÄ), ISSN 0012-0472, ZDB-ID 200446-x. - Stuttgart : Thieme |
Zeitschriftenartikel
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Druckschrift
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2014
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Palladium-catalyzed carbonylative transformations of bromhexine into bioactive compounds as glucocerebrosidase inhibitors: European journal of organic chemistry : EurJOC. - Weinheim : Wiley-VCH Verl |
Zeitschriftenartikel
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Druckschrift
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2013
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MRI in acute cerebral ischemia of the young: Neurology : official journal of the American Academy of Neurology. - Hagerstown, Md : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2013
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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in gaucher disease in a non-jewish, caucasian cohort of gaucher disease patients: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2013
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Olfactory deficits in Niemann-Pick type C1 (NPC1) disease: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2014
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ADAM10 negatively regulates neuronal differentiation during spinal cord development: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2014
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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker: The journal of clinical investigation : JCI ; the publication of the American Society for Clinical Investigation. - Ann Arbor, Mich : American Society for Clinical Investigation |
Zeitschriftenartikel
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Druckschrift
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2014
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Continuous cardiac troponin I release in fabry disease: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2014
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Lessons from everyday stroke care for clinical research and vice versa: BMC neurology. - London : BioMed Central |
Zeitschriftenartikel
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Elektronische Ressource
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2014
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Gene mutations versus clinically relevant phenotypes Lyso-Gb3 defines fabry disease: Circulation / Cardiovascular genetics. - Hagerstown, Md. : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2014
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HES5 is a key mediator of wnt-3a-induced neuronal differentiation: Stem cells and development. - Larchmont, NY : Liebert |
Zeitschriftenartikel
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Druckschrift
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2014
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Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice: Histology and histopathology. - Murcia : Gutenberg |
Zeitschriftenartikel
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Druckschrift
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2014
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Unraveling cellular phenotypes of Novel TorsinA/TOR1A mutations: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2014
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Nanog expression in heart tissues induced by acute myocardial infarction: Histology and histopathology. - Murcia : Gutenberg |
Zeitschriftenartikel
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Druckschrift
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2014
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Clinical signs in young patients with stroke related to FAST: BMJ open. - London : BMJ Publishing Group |
Zeitschriftenartikel
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Elektronische Ressource
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2015
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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: European journal of paediatric neurology : official journal of the European Paediatric Neurology Society ; ejpn. - Oxford [u.a.] : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2015
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Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: Journal of neuroscience research. - New York, NY [u.a.] : Wiley-Liss |
Zeitschriftenartikel
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Druckschrift
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2015
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Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer: The journal of molecular diagnostics. - New York, NY : Elsevier |
Zeitschriftenartikel
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Druckschrift
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2015
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Enzyme enhancers for the treatment of fabry and Pompe disease: Molecular therapy : the journal of the American Society of Gene Therapy. - New York, NY : Nature Publishing Group |
Zeitschriftenartikel
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Druckschrift
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2015
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Clinically relevant depressive symptoms in young stroke patients: Neuroepidemiology : official publication of the World Federation of Neurology, Research Committee on Neuroepidemiology. - Basel : Karger |
Zeitschriftenartikel
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Druckschrift
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2015
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Brain magnetic resonance imaging findings fail to suspect fabry disease in young patients with an acute cerebrovascular event: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2015
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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease: Orphanet journal of rare diseases : OJRD. - London : BioMed Central |
Zeitschriftenartikel
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Elektronische Ressource
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2015
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Indications for gliosis in Niemann-Pick type C1 patient-specific iPSC derived glia cells: Glia. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2015
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Family history in young patients with stroke: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2015
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Diagnosis of morquio syndrome in dried blood spots based on a new MRM-MS assay: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2015
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Heritability of young- and old-onset ischaemic stroke: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science |
Zeitschriftenartikel
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Druckschrift
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2015
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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations: The journal of clinical investigation : JCI ; the publication of the American Society for Clinical Investigation. - Ann Arbor, Mich : American Society for Clinical Investigation |
Zeitschriftenartikel
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Druckschrift
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2015
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Phenotypic ASCO characterisation of young patients with Ischemic Stroke in the prospective multicentre observational sifap1 study: Cerebrovascular diseases. - Basel : Karger |
Zeitschriftenartikel
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Druckschrift
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2015
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Arylindolylmalemide PDA-66 and Its derivate PDA-377 show antiproliferative effects on B-cell non-Hodgkin lymphoma cell lines with MYC and BCL rearrangements: Oncology research and treatment. - Basel : Karger |
Zeitschriftenartikel
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Druckschrift
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2016
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Functional and clinical consequences of novel -galactosidase a mutations in fabry disease: Human mutation : variation, databases, and disease. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2016
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Broadening the phenotypic spectrum of pathogenic LARP7 variants: Journal of human genetics : official journal of the Japan Society of Human Genetics. - Avenel, NJ : Nature Publ. Group |
Zeitschriftenartikel
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Druckschrift
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2016
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Characterization of the novel indolylmaleimides' PDA-66 and PDA-377 effect on canine lymphoma cells: OncoTarget : open access impact journal. - [S.l.] : Impact Journals LLC |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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4-Aminopyridine induced activity rescues hypoexcitable motor neurons from amyotrophic lateral sclerosis patient-derived induced pluripotent stem cells: Stem cells : the international journal of cell differentiation and proliferation. - Hoboken, NJ : Wiley-Blackwell |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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Cardiac Troponin I: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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Frequency and predictors of acute ischaemic lesions on brain magnetic resonance imaging in young patients with a clinical diagnosis of transient ischaemic attack: European journal of neurology : the official journal of the European Federation of Neurological Societies. - Oxford : Blackwell Science |
Zeitschriftenartikel
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Druckschrift
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2016
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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism: Cellular and molecular life sciences : (CMLS). - Basel : Birkhäuser |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy: Clinical genetics : an international journal of genetics in medicine. - Oxford : Wiley-Blackwell |
Zeitschriftenartikel
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Druckschrift
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2016
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Identification of an allosteric binding site on Human Lysosomal Alpha-Galactosidase opens the way to new pharmacological chaperones for fabry disease: PLoS one. - Lawrence, Kan : PLoS |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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Pharmacologic treatment assigned for Niemann pick type C1 disease partly changes behavioral traits in Wild-Type mice: International journal of molecular sciences. - Basel : Molecular Diversity Preservation International |
Zeitschriftenartikel
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Elektronische Ressource
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2016
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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick Disease type C: American journal of medical genetics / A. - Hoboken, NJ : Wiley-Liss |
Zeitschriftenartikel
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Druckschrift
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2016
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Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia: Cellular & molecular biology letters : publication of the University of Wroclaw in association with Polish Society for Cell Biology. - [Berlin] : [De Gruyter] |
Zeitschriftenartikel
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Druckschrift
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2017
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Patent foramen ovale and cryptogenic strokes in the stroke in young fabry patients study: Stroke : a journal of cerebral circulation. - Baltimore, MD : Lippincott Williams & Wilkins |
Zeitschriftenartikel
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Druckschrift
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2017
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"In vitro" enzyme measurement to test pharmacological chaperone responsiveness in fabry and pompe disease: JoVE, ISSN 1940-087X, ZDB-ID 2259946-0. - [S.l.] |
Zeitschriftenartikel
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Elektronische Ressource
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2017
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Glucosylsphingosine causes hematological and visceral changes in mice - evidence for a pathophysiological role in Gaucher disease: International journal of molecular sciences, ISSN 1422-0067, ZDB-ID 20193646. - Basel : Molecular Diversity Preservation International |
Zeitschriftenartikel
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Elektronische Ressource
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2017
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Increased regenerative capacity of the olfactory epithelium in NiemannPick disease type C1: International journal of molecular sciences, ISSN 1422-0067, ZDB-ID 20193646. - Basel : Molecular Diversity Preservation International |
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Elektronische Ressource
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2017
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Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation: Data in Brief, ISSN 2352-3409, ZDB-ID 27865459. - Amsterdam [u.a.] : Elsevier |
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Elektronische Ressource
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2017
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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: BMC medical genetics, ISSN 1471-2350, ZDB-ID 2041359-2. - London : BioMed Central |
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Elektronische Ressource
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2017
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Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors: Molecular and cellular neuroscience : MCN, ISSN 1095-9327, ZDB-ID 1471177-1. - San Diego, Calif : Elsevier |
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Elektronische Ressource
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2018
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Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke: PLOS ONE, ISSN 1932-6203, ZDB-ID 2267670-3. - San Francisco, California, US : PLOS |
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Elektronische Ressource
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2018
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Altered myelination in the Niemann-Pick type C1 mutant mouse: Histology and histopathology, ISSN 0213-3911, ZDB-ID 839115. - Murcia : Gutenberg |
Zeitschriftenartikel
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Druckschrift
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2018
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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes: Nature Communications, ISSN 2041-1723, ZDB-ID 2553671-0. - [London] : Nature Publishing Group UK |
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Elektronische Ressource
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2018
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A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay |
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Elektronische Ressource
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2018
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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) |
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Elektronische Ressource
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2018
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Dose-dependent effect of enzyme replacement therapy on neutralizing antidrug antibody titers and clinical outcome in patients with Fabry disease |
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Elektronische Ressource
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2013
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Interference of a novel indolylmaleimide with microtubules induces mitotic arrest and apoptosis in human progenitor and cancer cells |
Zeitschriftenartikel
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Druckschrift
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2019
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Genotype-phenotype correlation in a new Fabry-disease-causing mutation |
Zeitschriftenartikel
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Elektronische Ressource
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2019
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Off-label treatment of 4 amyotrophic lateral sclerosis patients with 4-aminopyridine |
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Elektronische Ressource
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2019
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Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas |
Zeitschriftenartikel
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Elektronische Ressource
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2017
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Fluorescent probes for selective protein labeling in lysosomes: a case of -galactosidase A |
Zeitschriftenartikel
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Elektronische Ressource
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2018
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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes |
Zeitschriftenartikel
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Elektronische Ressource
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2018
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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability |
Zeitschriftenartikel
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Elektronische Ressource
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2018
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Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes |
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Elektronische Ressource
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2018
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Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features |
Zeitschriftenartikel
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Elektronische Ressource
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2018
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Expanding the clinical and genetic spectra of NKX6-2-related disorder |
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Elektronische Ressource
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2021
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Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers |
Zeitschriftenartikel
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Elektronische Ressource
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2021
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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis |
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Elektronische Ressource
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2021
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Functional and molecular properties of dyt-sgce myoclonus-dystonia patient-derived striatal medium spiny neurons |
Zeitschriftenartikel
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Elektronische Ressource
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2021
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A nation-wide, multi-center study on the quality of life of ALS patients in Germany |
Zeitschriftenartikel
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Elektronische Ressource
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2022
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Safety and effectiveness of long-term intravenous administration of edaravone for treatment of patients with amyotrophic lateral sclerosis |
Zeitschriftenartikel
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Elektronische Ressource
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2022
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Gaucher disease diagnosis using LysoGb1 on dry blood spot samples |
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Elektronische Ressource
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2022
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Motorindependent cognitive testing in motor degenerative diseases |
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Elektronische Ressource
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2022
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Correlative all-optical quantification of mass density and mechanics of sub-cellular compartments with fluorescence specificity |
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Elektronische Ressource
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2022
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Impact of organelle transport deficits on mitophagy and autophagy in Niemann-Pick Disease Type C |
Zeitschriftenartikel
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Elektronische Ressource
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2022
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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development |
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Elektronische Ressource
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2022
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Functional MAOB gene intron 13 polymorphism predicts dyskinesia in Parkinson's Disease |
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Elektronische Ressource
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2022
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Affection of respiratory muscles in ALS and SMA |
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Elektronische Ressource
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2022
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Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy |
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Elektronische Ressource
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2022
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A Bayesian perspective on Biogen's aducanumab trial |
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Elektronische Ressource
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