Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Barbara Käsmann-Kellner"'
Autor:
Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2022)
Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestin
Externí odkaz:
https://doaj.org/article/66b95f81a5664238bf04adb0e46c3b3f
Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia
Autor:
Barbara Molz, Anne Herbik, Heidi A. Baseler, Pieter B. de Best, Richard W. Vernon, Noa Raz, Andre D. Gouws, Khazar Ahmadi, Rebecca Lowndes, Rebecca J. McLean, Irene Gottlob, Susanne Kohl, Lars Choritz, John Maguire, Martin Kanowski, Barbara Käsmann-Kellner, Ilse Wieland, Eyal Banin, Netta Levin, Michael B. Hoffmann, Antony B. Morland
Publikováno v:
NeuroImage: Clinical, Vol 33, Iss , Pp 102925- (2022)
Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture wit
Externí odkaz:
https://doaj.org/article/5b376ad1773c4fc9a913d40790812f34
Autor:
Rebecca Lowndes, Barbara Molz, Lucy Warriner, Anne Herbik, Pieter B. de Best, Noa Raz, Andre Gouws, Khazar Ahmadi, Rebecca J. McLean, Irene Gottlob, Susanne Kohl, Lars Choritz, John Maguire, Martin Kanowski, Barbara Käsmann-Kellner, Ilse Wieland, Eyal Banin, Netta Levin, Michael B. Hoffmann, Antony B. Morland, Heidi A. Baseler
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Most individuals with congenital achromatopsia (ACHM) carry mutations that affect the retinal phototransduction pathway of cone photoreceptors, fundamental to both high acuity vision and colour perception. As the central fovea is occupied solely by c
Externí odkaz:
https://doaj.org/article/f802a11afd7945488b5067da8e56a31e
Autor:
Lorenz Latta, Igor Knebel, Constanze Bleil, Tanja Stachon, Priya Katiyar, Claire Zussy, Fabian Norbert Fries, Barbara Käsmann-Kellner, Berthold Seitz, Nóra Szentmáry
Publikováno v:
Biomolecules, Vol 11, Iss 11, p 1651 (2021)
Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1
Externí odkaz:
https://doaj.org/article/98091ffec24d4b528c7db8b9aecb24ee
Autor:
Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger
Publikováno v:
Cells, Vol 10, Iss 10, p 2630 (2021)
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogene
Externí odkaz:
https://doaj.org/article/1be1c6870611448e83ba695fc2030e0a
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51645 (2012)
BACKGROUND: Optic neuritis is associated with neurodegeneration leading to chronic impairment of visual functions. OBJECTIVE: This study investigated whether early treatment with interferon beta (IFN-β) slows retinal nerve fibre layer (RNFL) thinnin
Externí odkaz:
https://doaj.org/article/c70c029ba1b94884ab6c96a2f3176f5a
Autor:
S.N. Roemer, S. Kalampokini, Gudrun Wagenpfeil, Piergiorgio Lochner, Klaus Fassbender, Berthold Seitz, Barbara Käsmann-Kellner, Sophia Knodel, K. Moslemani, Andrea Naldi, A. Wykrota
To assess the validity of neurosonological parameters (transorbital sonography (TOS)) for detection and monitoring of patients with idiopathic intracranial hypertension (IIH).Prospective, single-center, case-controlled study in 25 patients with IIH a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d0a15d24ca689d3f60b8b1ee095cfc
Publikováno v:
Der Ophthalmologe. 119:462-470
Autor:
Fabian N Fries, Kayed Moslemani, Tor Paaske Utheim, Berthold Seitz, Barbara Käsmann-Kellner, Neil S Lagali
AimTo evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia.Methods45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c75dd80b3b6a7e1a2a76368fdb863999
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190785
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190785
Publikováno v:
Der Ophthalmologe. 118:197-207
Die funktionale visuelle Wahrnehmung tragt zur Entwicklung des Kindes wesentlich bei und besteht aus weit mehr als nur der Sehscharfe und dem Gesichtsfeld. Sie umfasst die kognitive Betrachtung und Bewertung der Stimuli und lauft uber die temporale u