Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Leopold Größer"'
Autor:
Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Rakovic, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake, Michaela Müller, Humera Manzoor, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Meike Kasten, Vladimir S. Kostic, Thomas Gasser, Kirsten E. Zeuner, Han-Joon Kim, Beomseok Jeon, Peter Bauer, Eckart Altenmüller, Christine Klein, Katja Lohmann
Publikováno v:
Genes, Vol 8, Iss 10, p 276 (2017)
Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorder
Externí odkaz:
https://doaj.org/article/68ef966d001943d7bf13279faa7f2f2c
Autor:
Susen Schaake, Vladimir S. Kostic, Friederike Borngräber, Alexander Schmidt, Christine Klein, Thomas Gasser, Leopold Größer, Kirsten E. Zeuner, Humera Manzoor, Eva Juliane Vollstedt, Michaela Müller, Eckart Altenmüller, Ingrid Braenne, Beomseok Jeon, Peter O. Bauer, Jennie Hampf, Anne Weissbach, Katja Lohmann, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Han Joon Kim, Eva Hebert, Aleksandar Rakovic, Meike Kasten
Publikováno v:
Genes, Vol 8, Iss 10, p 276 (2017)
Genes
Genes
Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's dystonia (WD) are task-specific movement disorders, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33c169d5dafa5ee945a2c87f8ed19f2e
Autor:
Anette Bygum, Regina C. Betz, Maria Wehner, Ana-Maria Oprisoreanu, Janine Altmüller, Sandra Hanneken, Holger Thiele, Laila El Shabrawi-Caelen, F. Buket Basmanav, Leopold Größer, Sabrina Wolf, Christina Fagerberg, Günter Fritz, Arno Rütten, Peter Nürnberg, Laurent Parmentier, Susanne Schoch, Jörg Wenzel, Sandra M. Pasternack, Christian Hafner, Roland Kruse
Publikováno v:
Basmanav, F B, Oprisoreanu, A-M, Pasternack, S M, Thiele, H, Fritz, G, Wenzel, J, Größer, L, Wehner, M, Wolf, S, Fagerberg, C, Bygum, A, Altmüller, J, Rütten, A, Parmentier, L, El Shabrawi-Caelen, L, Hafner, C, Nürnberg, P, Kruse, R, Schoch, S, Hanneken, S & Betz, R C 2014, ' Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease ', American Journal of Human Genetics, vol. 94, no. 1, pp. 135-143 . https://doi.org/10.1016/j.ajhg.2013.12.003
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutatio