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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

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Zimoń, Magdalena ; Baets, Jonathan ; Auer-Grumbach, Michaela ; Berciano, José ; Garcia, Antonio ; Lopez-Laso, Eduardo ; Merlini, Luciano ; Hilton-Jones, David ; McEntagart, Meriel ; Crosby, Andrew H. ; Barisic, Nina ; Boltshauser, Eugen ; Shaw, Christopher E. ; Landouré, Guida ; Ludlow, Christy L. ; Gaudet, Rachelle ; Houlden, Henry ; Reilly, Mary M. ; Fischbeck, Kenneth H. ; Sumner, Charlotte J. ; Timmerman, Vincent ; Jordanova, Albena ; Jonghe, Peter De

In: Brain, 2010, vol. 133, no. 6, p. 1798-1809

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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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