Suchergebnisse - "Kaufmann, Walter"
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Study of trofinetide in Rett syndrome: Lessons from an approved drug for a severe neurodevelopmental disorder
ISSN: 0012-1622, 1469-8749, 1469-8749Veröffentlicht: England 25.09.2025Veröffentlicht in Developmental medicine and child neurology (25.09.2025)Volltext
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Automated crack detection and measurement based on digital image correlation
ISSN: 0950-0618, 1879-0526Veröffentlicht: Elsevier Ltd 30.09.2020Veröffentlicht in Construction & building materials (30.09.2020)“… [Display omitted] •The presented procedure records the full crack behaviour in large-scale experiments.•DIC results of the specimen’s surface provide highly …”
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CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies
ISSN: 0012-1622, 1469-8749, 1469-8749Veröffentlicht: England 01.04.2024Veröffentlicht in Developmental medicine and child neurology (01.04.2024)“… This commentary is on the original articles by Wong et al. and Daniels et al. on pages 469–482 and 456–468 of this issue …”
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Rett syndrome
ISBN: 9781909962835, 190996283XVeröffentlicht: London Mac Keith Press 2017“… Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers.It presents a …”
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Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
ISSN: 1460-2156, 1460-2156Veröffentlicht: England 01.02.2019Veröffentlicht in Brain (London, England : 1878) (01.02.2019)“… With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome …”
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Presynaptic cAMP-PKA-mediated potentiation induces reconfiguration of synaptic vesicle pools and channel-vesicle coupling at hippocampal mossy fiber boutons
ISSN: 1545-7885, 1544-9173, 1545-7885Veröffentlicht: United States Public Library of Science 18.11.2024Veröffentlicht in PLoS biology (18.11.2024)“… It is widely believed that information storage in neuronal circuits involves nanoscopic structural changes at synapses, resulting in the formation of synaptic …”
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Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon
ISSN: 0012-1622, 1469-8749, 1469-8749Veröffentlicht: England 01.07.2020Veröffentlicht in Developmental medicine and child neurology (01.07.2020)“… This commentary is on the original article by Clark et al. on pages 833–836 of this issue …”
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ABP1–TMK auxin perception for global phosphorylation and auxin canalization
ISSN: 0028-0836, 1476-4687, 1476-4687Veröffentlicht: London Nature Publishing Group UK 15.09.2022Veröffentlicht in Nature (London) (15.09.2022)“… The phytohormone auxin triggers transcriptional reprogramming through a well-characterized perception machinery in the nucleus. By contrast, mechanisms that …”
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Developmental transformation of Ca2+ channel-vesicle nanotopography at a central GABAergic synapse
ISSN: 1097-4199, 1097-4199Veröffentlicht: 06.03.2024Veröffentlicht in Neuron (Cambridge, Mass.) (06.03.2024)“… The coupling between Ca2+ channels and release sensors is a key factor defining the signaling properties of a synapse. However, the coupling nanotopography at …”
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Family income, parental education and brain structure in children and adolescents
ISSN: 1097-6256, 1546-1726, 1546-1726Veröffentlicht: New York Nature Publishing Group US 01.05.2015Veröffentlicht in Nature neuroscience (01.05.2015)“… Socioeconomic status is associated with cognitive development, but the extent to which this reflects neuroanatomical differences is unclear. In 1,099 children …”
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Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
ISSN: 1526-632X, 1526-632XVeröffentlicht: United States 16.04.2019Veröffentlicht in Neurology (16.04.2019)“… To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a …”
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Drug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis
ISSN: 1528-4042, 1534-6293, 1534-6293Veröffentlicht: New York Springer US 01.12.2025Veröffentlicht in Current neurology and neuroscience reports (01.12.2025)“… Purpose of the Review Preclinical and clinical evidence support the notion that neurodevelopmental disorders (NDDs) are synaptic disorders, characterized by …”
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment
ISSN: 1098-4275, 1098-4275Veröffentlicht: United States 01.06.2017Veröffentlicht in Pediatrics (Evanston) (01.06.2017)“… Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes …”
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Fundamental Studies on the Use of Distributed Fibre Optical Sensing on Concrete and Reinforcing Bars
ISSN: 1424-8220, 1424-8220Veröffentlicht: Switzerland MDPI AG 17.11.2021Veröffentlicht in Sensors (Basel, Switzerland) (17.11.2021)“… Distributed fibre optical sensing (DFOS) allows for quasi-continuous strain measurement in a broad range of gauge lengths and measurement frequencies. In …”
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Neuroanatomical assessment of biological maturity
ISSN: 1879-0445, 1879-0445Veröffentlicht: England 25.09.2012Veröffentlicht in Current biology (25.09.2012)“… Structural MRI allows unparalleled in vivo study of the anatomy of the developing human brain. For more than two decades, MRI research has revealed many new …”
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Application of Distributed Fibre Optical Sensing in Reinforced Concrete Elements Subjected to Monotonic and Cyclic Loading
ISSN: 1424-8220, 1424-8220Veröffentlicht: Switzerland MDPI AG 04.03.2022Veröffentlicht in Sensors (Basel, Switzerland) (04.03.2022)“… Distributed fibre optical sensing (DFOS) is increasingly used in civil engineering research. For reinforced concrete structures, almost continuous information …”
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Numbers of presynaptic Ca2+ channel clusters match those of functionally defined vesicular docking sites in single central synapses
ISSN: 1091-6490, 1091-6490Veröffentlicht: 27.06.2017Veröffentlicht in Proceedings of the National Academy of Sciences - PNAS (27.06.2017)“… Many central synapses contain a single presynaptic active zone and a single postsynaptic density. Vesicular release statistics at such "simple synapses" …”
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Toll-like receptor 4 deficiency facilitates α-synuclein propagation and neurodegeneration in a mouse model of prodromal Parkinson's disease
ISSN: 1353-8020, 1873-5126, 1873-5126Veröffentlicht: England Elsevier Ltd 01.10.2021Veröffentlicht in Parkinsonism & related disorders (01.10.2021)“… The evidence linking innate immunity mechanisms and neurodegenerative diseases is growing, but the specific mechanisms are incompletely understood …”
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ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome
ISSN: 0091-3057, 1873-5177, 1873-5177Veröffentlicht: United States Elsevier Inc 01.12.2019Veröffentlicht in Pharmacology, biochemistry and behavior (01.12.2019)“… Rett syndrome (RTT) is a severe neurodevelopmental disorder that is associated in most cases with mutations in the transcriptional regulator MECP2. At present, …”
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Rett syndrome: Revised diagnostic criteria and nomenclature
ISSN: 0364-5134, 1531-8249, 1531-8249Veröffentlicht: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2010Veröffentlicht in Annals of neurology (01.12.2010)“… Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations …”
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