Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

por Michael Zech, Georg Nübling, Florian Castrop, Angela Jochim, Eva C Schulte, Brit Mollenhauer, Peter Lichtner, Annette Peters, Christian Gieger, Thorsten Marquardt, Marie T Vanier, Philippe Latour, Hans Klünemann, Claudia Trenkwalder, Janine Diehl-Schmid, Robert Perneczky, Thomas Meitinger, Konrad Oexle, Bernhard Haslinger, Stefan Lorenzl, Juliane Winkelmann
Publicado 2013

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.

por Eva C Schulte, Katharina Schramm, Claudia Schurmann, Peter Lichtner, Christian Herder, Michael Roden, Christian Gieger, Annette Peters, Claudia Trenkwalder, Birgit Högl, Birgit Frauscher, Klaus Berger, Ingo Fietze, Nadine Gross, Karin Stiasny-Kolster, Wolfgang Oertel, Cornelius G Bachmann, Walter Paulus, Alexander Zimprich, Henry Völzke, Ulf Schminke, Matthias Nauck, Thomas Illig, Thomas Meitinger, Bertram Müller-Myhsok, Holger Prokisch, Juliane Winkelmann
Publicado 2014

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

por Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Publicado 2019