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

af 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
Udgivet 2013

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

af 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
Udgivet i Nat Commun (2019)