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Items where Author is "Zavadakova, Petra"

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Group by: Date | Item Type | Refereed
Jump to: 2015 | 2013 | 2004
Number of items: 3.

2015

Safka Brozkova, Dana and Deconinck, Tine and Griffin, Laurie Beth and Ferbert, Andreas and Haberlova, Jana and Mazanec, Radim and Lassuthova, Petra and Roth, Christian and Pilunthanakul, Thanita and Rautenstrauss, Bernd and Janecke, Andreas R. and Zavadakova, Petra and Chrast, Roman and Rivolta, Carlo and Zuchner, Stephan and Antonellis, Anthony and Beg, Asim A. and De Jonghe, Peter and Senderek, Jan and Seeman, Pavel and Baets, Jonathan. (2015) Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain, 138 (8). pp. 2161-2172.

2013

Azzedine, Hamid and Zavadakova, Petra and Planté-Bordeneuve, Violaine and Vaz Pato, Maria and Pinto, Nuno and Bartesaghi, Luca and Zenker, Jennifer and Poirot, Olivier and Bernard-Marissal, Nathalie and Arnaud Gouttenoire, Estelle and Cartoni, Romain and Title, Alexandra and Venturini, Giulia and Médard, Jean-Jacques and Makowski, Edward and Schöls, Ludger and Claeys, Kristl G. and Stendel, Claudia and Roos, Andreas and Weis, Joachim and Dubourg, Odile and Leal Loureiro, José and Stevanin, Giovanni and Said, Gérard and Amato, Anthony and Baraban, Jay and LeGuern, Eric and Senderek, Jan and Rivolta, Carlo and Chrast, Roman. (2013) PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Human Molecular Genetics, 22 (20). pp. 4224-4232.

2004

Suormala, Terttu and Baumgartner, Matthias R. and Coelho, David and Zavadakova, Petra and Kozich, Viktor and Koch, Hans Georg and Berghaüser, Martin and Wraith, James E. and Burlina, Alberto and Sewell, Adrian and Herwig, Jürgen and Fowler, Brian. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. Journal of biological chemistry, Vol. 279, no. 41. pp. 42742-42749.

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