Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Simone Schröder"'
Autor:
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by som
Externí odkaz:
https://doaj.org/article/ceff460c817f43bdbaa50221fb814e9a
Autor:
Matthias Kettwig, Katharina Ternka, Kristin Wendland, Dennis Manfred Krüger, Silvia Zampar, Charlotte Schob, Jonas Franz, Abhishek Aich, Anne Winkler, M. Sadman Sakib, Lalit Kaurani, Robert Epple, Hauke B. Werner, Samy Hakroush, Julia Kitz, Marco Prinz, Eva Bartok, Gunther Hartmann, Simone Schröder, Peter Rehling, Marco Henneke, Susann Boretius, A. Alia, Oliver Wirths, Andre Fischer, Christine Stadelmann, Stefan Nessler, Jutta Gärtner
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Studies on interferon-driven brain pathology have so far been hampered by the lack of appropriate animal models. Here the authors characterize RNASET2-deficient mice and show that neuroinflammation and brain atrophy are IFNAR1-dependent.
Externí odkaz:
https://doaj.org/article/bd1fa646273840d68762f26fc8a37047
Autor:
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich
Publikováno v:
Neurobiology of Disease, Vol 143, Iss , Pp 105012- (2020)
Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Recently, cerebellar ataxi
Externí odkaz:
https://doaj.org/article/d89e933f34624e70b8ae148a621dfa36
Autor:
Anne Winkler, Jonas Franz, Marco Henneke, Andre Fischer, Peter Rehling, A. Alia, Abhishek Aich, Hauke B. Werner, Simone Schröder, Samy Hakroush, Eva Bartok, Katharina Ternka, Charlotte Schob, Julia Kitz, Susann Boretius, Dennis M. Krüger, Robert Epple, M. Sadman Sakib, Silvia Zampar, Gunther Hartmann, Matthias Kettwig, Lalit Kaurani, Stefan Nessler, Kristin Wendland, Oliver Wirths, Jutta Gärtner, Marco Prinz, Christine Stadelmann
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communications 12(1), 6530 (2021). doi:10.1038/s41467-021-26880-x
Nature Communications, 12. Springer Science and Business Media LLC
Nature Communications
Nature Communications 12(1), 6530 (2021). doi:10.1038/s41467-021-26880-x
Nature Communications, 12. Springer Science and Business Media LLC
Nature Communications
Infantile-onset RNaseT2 deficient leukoencephalopathy is characterised by cystic brain lesions, multifocal white matter alterations, cerebral atrophy, and severe psychomotor impairment. The phenotype is similar to congenital cytomegalovirus brain inf
Autor:
Simone Schröder, Britta Wieland, Janine Altmüller, Thilo Dörk, Eugen Boltshauser, Knut Brockmann, Gökhan Yigit, Andreas Ohlenbusch
Publikováno v:
American Journal of Medical Genetics Part A. 182:2971-2975
Mild clinical phenotypes of ataxia-telangiectasia (variant A-T) are associated with biallelic ATM variants resulting in residual function of the ATM kinase. At least one regulatory, missense, or leaky splice site mutation resulting in expression of A
Autor:
Anja Uhmann, Gökhan Yigit, Simone Schröder, Knut Brockmann, Yun Li, Bernd Wollnik, Eugen Boltshauser
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Autor:
Simone Schröder, Janine Altmüller, Britta Wieland, Eugen Boltshauser, Thilo Dörk, Andreas Ohlenbusch, Gökhan Yigit, Knut Brockmann
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Autor:
Martin Preisel, Sandra P. Toelle, Saskia B. Wortmann, Anja Uhmann, G. Christoph Korenke, Ingrid Bader, Raimund Kottke, Eugen Boltshauser, Gökhan Yigit, Bernd Wollnik, Heidi Hahn, Yun Li, Simone Schröder, Janine Altmüller, Saskia Biskup, Sarah Wente-Schulz, Steffi Dreha-Kulaczewski, Knut Brockmann, Johannes A. Mayr, Andrea Bevot
Publikováno v:
Genetics in Medicine
PURPOSE: This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable. METHODS: We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b7d222dd018bf76c63722c436e41b0
http://edoc.mdc-berlin.de/20495/1/20495oa.pdf
http://edoc.mdc-berlin.de/20495/1/20495oa.pdf
Autor:
Simone Schröder
Publikováno v:
Abhandlungen zur Literaturwissenschaft ISBN: 9783662622124
The article seeks to examine how literary festivals present Nature Writing and to what effect this happens within a wider publishing system. In 2018, several festivals in the German-speaking world featured events on Nature Writing. This seems to be s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0c029d89b321114095a4ef830e07c4c
https://doi.org/10.1007/978-3-662-62213-1_17
https://doi.org/10.1007/978-3-662-62213-1_17
Publikováno v:
Neuropediatrics. 48:S1-S45