![[höher]](/style/images/multi_up.png)
Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2021
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
Reilich, Peter; Schlotter, Beate; Montagnese, Federica; Jordan, Berit; Stock, Friedrich; Schaeff-Vogelsang, Mario; Hotter, Benjamin; Eger, Katherina; Diebold, Isabel; Erdmann, Hannes; Becker, Kerstin; Schoen, Ulrike und Abicht, Angela
(2021):
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
In: Neuromuscular Disorders, Bd. 31, Nr. 2: S. 123-133
2019
Brenner, David; Rosenbohm, Angela; Yilmaz, Ruestem; Mueller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G.; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Guenther, Kornelia; Huebers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E.; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M.; Freischmidt, Axel; Meitinger, Thomas; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Weyen, Ute; Hermann, Andreas; Winkler, Juergen; Hagenacker, Tim; Koch, Jan Christoph; Lingor, Paul; Goericke, Bettina; Zierz, Stephan; Baum, Petra; Wolf, Joachim; Winkler, Andrea; Young, Peter; Bogdahn, Ulrich; Prudlo, Johannes und Kassubek, Jan
(2019):
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
In: Brain, Bd. 142, e67
[PDF, 190kB]