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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Krieger, Michael ; Roos, Andreas ; Stendel, Claudia ; Claeys, Kristl G. ; Sonmez, Fatma Mujgan ; Baudis, Michael ; Bauer, Peter ; Bornemann, Antje ; de Goede, Christian ; Dufke, Andreas ; Finkel, Richard S. ; Goebel, Hans H. ; Häussler, Martin ; Kingston, Helen ; Kirschner, Janbernd ; Medne, Livija ; Muschke, Petra ; Rivier, François ; Rudnik-Schöneborn, Sabine ; Spengler, Sabrina ; Inzana, Francesca ; Stanzial, Franco ; Benedicenti, Francesco ; Synofzik, Matthis ; Lia Taratuto, Ana ; Pirra, Laura ; Tay, Stacey Kiat-Hong ; Topaloglu, Haluk ; Uyanik, Gökhan ; Wand, Dorothea ; Williams, Denise ; Zerres, Klaus ; Weis, Joachim ; Senderek, Jan

In: Brain, 2013, vol. 136, no. 12, p. 3634-3644