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Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Poretti, Andrea ; Häusler, Martin ; von Moers, Arpad ; Baumgartner, Bastian ; Zerres, Klaus ; Klein, Andrea ; Aiello, Chiara ; Moro, Francesca ; Zanni, Ginevra ; Santorelli, Filippo ; Huisman, Thierry ; Weis, Joachim ; Valente, Enza ; Bertini, Enrico ; Boltshauser, Eugen

In: The Cerebellum, 2014, vol. 13, no. 1, p. 79-88

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Postmortem Multislice Computed Tomography and Magnetic Resonance Imaging of odontoid fractures, atlantoaxial distractions and ascending medullary edema

Yen, Kathrin ; Sonnenschein, Martin ; Thali, Michael ; Ozdoba, Christof ; Weis, Joachim ; Zwygart, Karin ; Aghayev, Emin ; Jackowski, Christian ; Dirnhofer, Richard

In: International Journal of Legal Medicine, 2005, vol. 119, no. 3, p. 129-136

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Objective Response to Radiation Therapy and Long-Term Survival of Patients with WHO Grade II Astrocytic Gliomas with Known LOH 1p/19q Status = Objektives Tumoransprechen nach Radiotherapie und Langzeitüberleben von Patienten mit astrozytären WHO-Grad-II-Gliomen mit bekanntem LOH-1p/19q-Status

Fathi, Ali-Reza ; Vassella, Erik ; Arnold, Marlene ; Curschmann, Jürgen ; Reinert, Michael ; Vajtai, Istvan ; Weis, Joachim ; Deiana, Gianluca ; Mariani, Luigi

In: Strahlentherapie und Onkologie, 2007, vol. 183, no. 9, p. 517-522

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PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Azzedine, Hamid ; Zavadakova, Petra ; Planté-Bordeneuve, Violaine ; Vaz Pato, Maria ; Pinto, Nuno ; Bartesaghi, Luca ; Zenker, Jennifer ; Poirot, Olivier ; Bernard-Marissal, Nathalie ; Arnaud Gouttenoire, Estelle ; Cartoni, Romain ; Title, Alexandra ; Venturini, Giulia ; Médard, Jean-Jacques ; Makowski, Edward ; Schöls, Ludger ; Claeys, Kristl G. ; Stendel, Claudia ; Roos, Andreas ; Weis, Joachim ; Dubourg, Odile ; Leal Loureiro, José ; Stevanin, Giovanni ; Said, Gérard ; Amato, Anthony ; Baraban, Jay ; LeGuern, Eric ; Senderek, Jan ; Rivolta, Carlo ; Chrast, Roman

In: Human Molecular Genetics, 2013, vol. 22, no. 20, p. 4224-4232

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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

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