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Number of items: 5.

Suriyanarayanan, Saranya; Othman, Alaa; Dräger, Bianca; Schirmacher, Anja; Young, Peter; Mulahasanovic, Lejla; Hörtnagel, Konstanze; Biskup, Saskia; von Eckardstein, Arnold; Hornemann, Thorsten; Lone, Museer A (2019). A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. Neuromolecular Medicine, 21(2):182-191.

Karin, Ivan; Borggraefe, Ingo; Catarino, Claudia B; Kuhm, Christoph; Hoertnagel, Konstanze; Biskup, Saskia; Opladen, Thomas; Blau, Nenad; Heinen, Florian; Klopstock, Thomas (2017). Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. Journal of Neurology, 264(3):578-582.

Linnebank, Michael; McDougall, Cameron G; Krueger, Stefanie; Biskup, Saskia; Neumann, Manuela; Weller, Michael; Valavanis, Antonios; Prudlo, Johannes (2016). Novel cases of amyotrophic lateral sclerosis after treatment of cerebral arteriovenous malformationss. Swiss Medical Weekly, 146:w14361.

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Møller, Rikke S; Hjalgrim, Helle; Addis, Laura; Tang, Shan; Hughes, Elaine; Pal, Deb K; Veri, Kadi; Vaher, Ulvi; Talvik, Tiina; Dimova, Petia; Guerrero López, Rosa; Serratosa, José M; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Ruf, Susanne; Wolff, Markus; Buerki, Sarah; Wohlrab, Gabriele; Kroell, Judith; Datta, Alexandre N; Fiedler, Barbara; Kurlemann, Gerhard; Kluger, Gerhard; Hahn, Andreas; Haberlandt, D Edda; Kutzer, Christina; Sperner, Jürgen; Becker, Felicitas; Weber, Yvonne G; Feucht, Martha; Steinböck, Hannelore; Neophythou, Birgit; Ronen, Gabriel M; Gruber-Sedlmayr, Ursula; Geldner, Julia; Harvey, Robert J; Hoffmann, Per; Herms, Stefan; Altmüller, Janine; Toliat, Mohammad R; Thiele, Holger; Nürnberg, Peter; Wilhelm, Christian; Stephani, Ulrich; Helbig, Ingo; Lerche, Holger; Zimprich, Fritz; Neubauer, Bernd A; Biskup, Saskia; von Spiczak, Sarah (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9):1067-1072.

This list was generated on Sat Aug 24 08:49:11 2019 CEST.