Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Por Schreml, Julia, Riessland, Markus, Paterno, Mario, Garbes, Lutz, Roßbach, Kristina, Ackermann, Bastian, Krämer, Jan, Somers, Eilidh, Parson, Simon H, Heller, Raoul, Berkessel, Albrecht, Sterner-Kock, Anja, Wirth, Brunhilde
Publicado em 2013

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

Por Schnurbein, Gioia, Hauke, Jan, Wappenschmidt, Barbara, Weber-Lassalle, Nana, Engert, Stefanie, Hellebrand, Heide, Garbes, Lutz, Becker, Alexandra, Neidhardt, Guido, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K, Hahnen, Eric
Publicado em 2013

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Por Semler, Oliver, Garbes, Lutz, Keupp, Katharina, Swan, Daniel, Zimmermann, Katharina, Becker, Jutta, Iden, Sandra, Wirth, Brunhilde, Eysel, Peer, Koerber, Friederike, Schoenau, Eckhard, Bohlander, Stefan K., Wollnik, Bernd, Netzer, Christian
Publicado em 2012

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Por Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver, Bohlander, Stefan K., Kim, Jinoh, Netzer, Christian
Publicado no Am J Hum Genet (2015)

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Por Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde
Publicado em 2013

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Por Riessland, Markus, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Löhr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kröber, Sandra, Hölker, Irmgard, Garbes, Lutz, Gilissen, Christian, Hoischen, Alexander, Nürnberg, Gudrun, Nürnberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter, Wirth, Brunhilde
Publicado no Am J Hum Genet (2017)

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Por Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian
Publicado no Am J Hum Genet (2019)