Horizontal gaze palsy with progressive scoliosis: Three novel ROBO3 mutations and descriptions of the phenotypes of four patients

Por Volk, Alexander E., Carter, Oliver, Fricke, Julia, Herkenrath, Peter, Poggenborg, Jörg, Borck, Guntram, Demant, Andre W., Ivo, Roland, Eysel, Peer, Kubisch, Christian, Neugebauer, Antje
Publicado em 2011

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

Por Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E., Brooks, William S., Schofield, Peter R., Pastor, Pau, Kwok, John B. J.
Publicado em 2013

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Por von Ameln, Simon, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nürnberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nürnberg, Peter, Hofmann, Kay, Richardson, Guy P., Hammerschmidt, Matthias, Moser, Tobias, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid, Kubisch, Christian
Publicado em 2012

Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

Por Lehmer, Carina, Oeckl, Patrick, Weishaupt, Jochen H, Volk, Alexander E, Diehl‐Schmid, Janine, Schroeter, Matthias L, Lauer, Martin, Kornhuber, Johannes, Levin, Johannes, Fassbender, Klaus, Landwehrmeyer, Bernhard, Schludi, Martin H, Arzberger, Thomas, Kremmer, Elisabeth, Flatley, Andrew, Feederle, Regina, Steinacker, Petra, Weydt, Patrick, Ludolph, Albert C, Edbauer, Dieter, Otto, Markus, Danek, Adrian, Feneberg, Emily, Anderl‐Straub, Sarah, von Arnim, Christine, Jahn, Holger, Schneider, Anja, Maler, Manuel, Polyakova, Maryna, Riedl, Lina, Wiltfang, Jens, Ziegler, Georg
Publicado no EMBO Mol Med (2017)

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Por Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado no Breast Cancer Res (2018)

Hot-spot KIF5A mutations cause familial ALS

Por Brenner, David, Yilmaz, Rüstem, Müller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E, Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M, Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H
Publicado no Brain (2018)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Por Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Publicado em 2014