Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Dis...

Por Rolfs, Arndt, Giese, Anne-Katrin, Grittner, Ulrike, Mascher, Daniel, Elstein, Deborah, Zimran, Ari, Böttcher, Tobias, Lukas, Jan, Hübner, Rayk, Gölnitz, Uta, Röhle, Anja, Dudesek, Ales, Meyer, Wolfgang, Wittstock, Matthias, Mascher, Hermann
Publicado em 2013

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

Por Lukas, Jan, Torras, Joan, Navarro, Itziar, Giese, Anne-Katrin, Böttcher, Tobias, Mascher, Hermann, Lackner, Karl J., Fauler, Guenter, Paschke, Eduard, Cruzado, Josep M., Dudesek, Ales, Wittstock, Matthias, Meyer, Wolfgang, Rolfs, Arndt
Publicado no Clin Kidney J (2012)

Identification and functional analysis of novel THAP1 mutations

Por Lohmann, Katja, Uflacker, Nils, Erogullari, Alev, Lohnau, Thora, Winkler, Susen, Dendorfer, Andreas, Schneider, Susanne A, Osmanovic, Alma, Svetel, Marina, Ferbert, Andreas, Zittel, Simone, Kühn, Andrea A, Schmidt, Alexander, Altenmüller, Eckart, Münchau, Alexander, Kamm, Christoph, Wittstock, Matthias, Kupsch, Andreas, Moro, Elena, Volkmann, Jens, Kostic, Vladimir, Kaiser, Frank J, Klein, Christine, Brüggemann, Norbert
Publicado em 2012

Multi-center analysis of glucocerebrosidase mutations in Parkinson disease

Por Sidransky, Ellen, Nalls, Michael A., Aasly, Jan O., Aharon-Peretz, Judith, Annesi, Grazia, Barbosa, Egberto Reis, Bar-Shira, Anat, Berg, Daniela, Bras, Jose, Brice, Alexis, Chen, Chiung-Mei, Clark, Lorraine N., Condroyer, Christel, De Marco, Elvira Valeria, Dürr, Alexandra, Eblan, Michael J., Fahn, Stanley, Farrer, Matthew, Fung, Hon-Chung, Gan-Or, Ziv, Gasser, Thomas, Gershoni-Baruch, Ruth, Giladi, Nir, Griffith, Alida, Gurevich, Tanya, Januario, Cristina, Kropp, Peter, Lang, Anthony E., Lee-Chen, Guey-Jen, Lesage, Suzanne, Marder, Karen, Mata, Ignacio F., Mirelman, Anat, Mitsui, Jun, Mizuta, Ikuko, Nicoletti, Giuseppe, Oliveira, Catarina, Ottman, Ruth, Orr-Urtreger, Avi, Pereira, Lygia V., Quattrone, Aldo, Rogaeva, Ekaterina, Rolfs, Arndt, Rosenbaum, Hanna, Rozenberg, Roberto, Samii, Ali, Samaddar, Ted, Schulte, Claudia, Sharma, Manu, Singleton, Andrew, Spitz, Mariana, Tan, Eng-King, Tayebi, Nahid, Toda, Tatsushi, Troiano, André, Tsuji, Shoji, Wittstock, Matthias, Wolfsberg, Tyra G., Wu, Yih-Ru, Zabetian, Cyrus P., Zhao, Yi, Ziegler, Shira G.
Publicado em 2009