Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

door Sharifi, Reza, Morra, Rosa, Denise Appel, C, Tallis, Michael, Chioza, Barry, Jankevicius, Gytis, Simpson, Michael A, Matic, Ivan, Ozkan, Ege, Golia, Barbara, Schellenberg, Matthew J, Weston, Ria, Williams, Jason G, Rossi, Marianna N, Galehdari, Hamid, Krahn, Juno, Wan, Alexander, Trembath, Richard C, Crosby, Andrew H, Ahel, Dragana, Hay, Ron, Ladurner, Andreas G, Timinszky, Gyula, Williams, R Scott, Ahel, Ivan
Gepubliceerd in 2013

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

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