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

Por 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
Publicado em 2013

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

Por 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
Publicado no Nat Commun (2019)