Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hans-Martin Büttel"'
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:
Milka, Pringsheim, Diana, Mitter, Simone, Schröder, Rita, Warthemann, Kim, Plümacher, Gerhard, Kluger, Martina, Baethmann, Thomas, Bast, Sarah, Braun, Hans-Martin, Büttel, Elizabeth, Conover, Carolina, Courage, Alexandre N, Datta, Angelika, Eger, Theresa A, Grebe, Annette, Hasse-Wittmer, Marion, Heruth, Karen, Höft, Angela M, Kaindl, Stephanie, Karch, Torsten, Kautzky, Georg C, Korenke, Bernd, Kruse, Richard E, Lutz, Heymut, Omran, Steffi, Patzer, Heike, Philippi, Keri, Ramsey, Tina, Rating, Angelika, Rieß, Mareike, Schimmel, Rachel, Westman, Frank-Martin, Zech, Birgit, Zirn, Pauline A, Ulmke, Godwin, Sokpor, Tran, Tuoc, Andreas, Leha, Martin, Staudt, Knut, Brockmann
Publikováno v:
Annals of Clinical and Translational Neurology
Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9276898e4ccb621327463e48c5639f79
http://hdl.handle.net/10138/301566
http://hdl.handle.net/10138/301566
Autor:
Birgit Zirn, Wolfram Heinritz, Keri Ramsey, Milka Pringsheim, Angelika Rieß, Dörthe Malzahn, Marc Kaulisch, Hans Martin Büttel, Katherine L. Helbig, Johannes R. Lemke, Luis Rohena, Martina Baethmann, G. Christoph Korenke, Frank Martin Zech, Marion Heruth, Isabelle Prehl, Konstanze Hoertnagel, Kim Sarah Plümacher, Knut Brockmann, Carolina Courage, Gerhard Kluger, Stephanie Karch, Karen Höft, Diana Mitter, Barbara Zoll, Julie S. Cohen, Angelika Eger, Rami Abou Jamra, Steffi Patzer, Theresa A. Grebe, Simone Schröder, Ali Fatemi, Dagmar Huhle, Richard E. Lutz, Tina Rating, Elizabeth Conover, Mareike Schimmel, Thomas Bast, Rita Warthemann, Rachel Westman, Natalie Hauser
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1ca1d751ebedeb1b4598eb9aaa4e1e
https://pubmed.ncbi.nlm.nih.gov/28661489
https://pubmed.ncbi.nlm.nih.gov/28661489
Autor:
Wente, Sarah, Schröder, Simone, Buckard, Johannes, Hans-Martin Büttel, Deimling, Florian Von, Diener, Wilfried, Häussler, Martin, Hübschle, Susanne, Kinder, Silvia, Kurlemann, Gerhard, Kretzschmar, Christoph, Lingen, Michael, Maroske, Wiebke, Mundt, Dirk, Sánchez-Albisua, Iciar, Seeger, Jürgen, Toelle, Sandra, Boltshauser, Eugen, Brockmann, Knut
Congenital Ocular Motor Apraxia (COMA) – Questionnaire. (DOCX 26 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b815a211ffd2230a7abaca7d8237a3
Autor:
Hans-Martin Büttel, Eva Rossier, Frank Oeffner, Stephen G. Kaler, Birgit Zirn, Gunther Lemm, Anna Lena Burgemeister
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-depend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec79011439680d5441c96a8dbc338165
https://europepmc.org/articles/PMC6475897/
https://europepmc.org/articles/PMC6475897/