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Author Krabichler B |
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Article
Indelicato E, Author ; Nachbauer W ; Fauth C ; Krabichler B ; Schossig A ; Eigentler A ; Dichtl W ; Wenning G ; Wagner M ; Fanciulli A ; Janecke A ; Boesch S | England | 11/12/2018INTRODUCTION: SYNE1 encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating SYNE1 mutations have been linked to a genetic for[...]Article
Baumann M ; Giunta C ; Krabichler B ; Rüschendorf F ; Zoppi N ; Colombi M ; Bittner RE ; Quijano Roy S ; Muntoni F ; Cirak S ; Schreiber G ; Zou Y ; Hu Y ; Romero NB ; Carlier RY ; Amberger A ; Deutschmann A ; Straub V ; Rohrbach M ; Steinmann B ; Rostasy K ; Karall D ; Bonnemann CG ; Zschocke J ; Fauth C | 2012