Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: MUSCLE WEAKNESS - GENETICS , . Treffer: 3
2022
Krenn, M; Tomschik, M; Wagner, M; Zulehner, G; Weng, R; Rath, J; Klotz, S; Gelpi, E; Bsteh, G; Keritam, O; Colonna, I; Paternostro, C; Jäger, F; Lindeck-Pozza, E; Iglseder, S; Grinzinger, S; Schönfelder, M; Hohenwarter, C; Freimüller, M; Embacher, N; Wanschitz, J; Topakian, R; Töpf, A; Straub, V; Quasthoff, S; Zimprich, F; Löscher, WN; Cetin, H
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Eur J Neurol. 2022; 29(6):1815-1824
Doi: 10.1111/ene.15306
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2007
Miltenberger-Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer-Grumbach, M; Löscher, WN
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol. 2007; 64(7):966-970
Doi: 10.1001/archneur.64.7.966
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
2004
Irobi, J; Van den Bergh, P; Merlini, L; Verellen, C; Van Maldergem, L; Dierick, I; Verpoorten, N; Jordanova, A; Windpassinger, C; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
BRAIN. 2004; 127(Pt 9): 2124-2130.
Doi: 10.1093/brain/awh232
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar