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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

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

Consortium of Swiss Academic Libraries

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Auer-Grumbach, Michaela ; Weger, Martin ; Fink-Puches, Regina ; Papić, Lea ; Fröhlich, Eleonore ; Auer-Grumbach, Piet ; El Shabrawi-Caelen, Laila ; Schabhüttl, Maria ; Windpassinger, Christian ; Senderek, Jan ; Budka, Herbert ; Trajanoski, Slave ; Janecke, Andreas R. ; Haas, Anton ; Metze, Dieter ; Pieber, Thomas R. ; Guelly, Christian

In: Brain, 2011, vol. 134, no. 6, p. 1839-1852

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