Suchbegriffe: LIMB-GIRDLE MUSCULAR DYSTROPHY, . Treffer: 2
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
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Evilä, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttilä, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Mol Neurobiol. 2017; 54(9):7212-7223
Doi: 10.1007/s12035-016-0242-3
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