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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Dierick, Ines ; Baets, Jonathan ; Irobi, Joy ; Jacobs, An ; De Vriendt, Els ; Deconinck, Tine ; Merlini, Luciano ; Van den Bergh, Peter ; Rasic, Vedrana Milic ; Robberecht, Wim ; Fischer, Dirk ; Morales, Raul Juntas ; Mitrovic, Zoran ; Seeman, Pavel ; Mazanec, Radim ; Kochanski, Andrzej ; Jordanova, Albena ; Auer-Grumbach, Michaela ; Helderman-van den Enden, A. T. J. M. ; Wokke, John H. J. ; Nelis, Eva ; De Jonghe, Peter ; Timmerman, Vincent

In: Brain, 2008, vol. 131, no. 5, p. 1217-1227

Consortium of Swiss Academic Libraries

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Safka Brozkova, Dana ; Deconinck, Tine ; Beth Griffin, Laurie ; Ferbert, Andreas ; Haberlova, Jana ; Mazanec, Radim ; Lassuthova, Petra ; Roth, Christian ; Pilunthanakul, Thanita ; Rautenstrauss, Bernd ; Janecke, Andreas R. ; Zavadakova, Petra ; Chrast, Roman ; Rivolta, Carlo ; Zuchner, Stephan ; Antonellis, Anthony ; Beg, Asim A. ; De Jonghe, Peter ; Senderek, Jan ; Seeman, Pavel ; Baets, Jonathan

In: Brain, 2015, vol. 138, no. 8, p. 2161-2172

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