Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C von Auer-Grumbach, Michaela, Olschewski, Andrea, Papi, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi, Strohmaier, Heimo, Lochmüller, Hanns, Schlotter-Weigel, Beate, Senderek, Jan, Krebs, Angelika, Dick, Katherine J, Petty, Richard, Longman, Cheryl, Anderson, Neil E, Padberg, George W, Schelhaas, Helenius J, van Ravenswaaij-Arts, Conny M A, Pieber, Thomas R, Crosby, Andrew H, Guelly, Christian

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I von Guelly, Christian, Zhu, Peng-Peng, Leonardis, Lea, Papić, Lea, Zidar, Janez, Schabhüttl, Maria, Strohmaier, Heimo, Weis, Joachim, Strom, Tim M., Baets, Jonathan, Willems, Jan, De Jonghe, Peter, Reilly, Mary M., Fröhlich, Eleonore, Hatz, Martina, Trajanoski, Slave, Pieber, Thomas R., Janecke, Andreas R., Blackstone, Craig, Auer-Grumbach, Michaela

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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin von AUER-GRUMBACH, Michaela, WEGER, Martin, BUDKA, Herbert, TRAJANOSKI, Slave, JANECKE, Andreas R, HAAS, Anton, METZE, Dieter, PIEBER, Thomas R, GUELLY, Christian, FINK-PUCHES, Regina, PAPIC, Lea, FRÖHLICH, Eleonore, AUER-GRUMBACH, Piet, EL SHABRAWI-CAELEN, Laila, SCHABHÜTTL, Maria, WINDPASSINGER, Christian, SENDEREK, Jan

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Motor neuron, nerve, and neuromuscular junction disease von Finsterer, Josef, Papić, Lea, Auer-Grumbach, Michaela

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease von Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients von Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M, Bittner, Reginald E, Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R, Janecke, Andreas R, Auer-Grumbach, Michaela

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease von Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N, Pieber, Thomas R, Janecke, Andreas R, Auer-Grumbach, Michaela

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Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders von De Marchi, Fabiola, Munitic, Ivana, Vidatic, Lea, Papić, Eliša, Rački, Valentino, Nimac, Jerneja, Jurak, Igor, Novotni, Gabriela, Rogelj, Boris, Vuletic, Vladimira, Liscic, Rajka M, Cannon, Jason R, Buratti, Emanuele, Mazzini, Letizia, Hecimovic, Silva

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