Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders

Por Buchkremer, Stephan, González Coraspe, José Andrés, Weis, Joachim, Roos, Andreas
Publicado no J Neuromuscul Dis (2016)

Differential Effects of Myopathy-Associated Caveolin-3 Mutants on Growth Factor Signaling

Por Brauers, Eva, Dreier, Agnes, Roos, Andreas, Wormland, Berthold, Weis, Joachim, Krüttgen, Alexander
Publicado em 2010

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

Por Schönherr, Nadine, Meyer, Esther, Roos, Andreas, Schmidt, Angela, Wollmann, Hartmut A, Eggermann, Thomas
Publicado em 2007

SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India

Por Jauhari, Prashant, Sahu, Jitendra K., Roos, Andreas, Senderek, Jan, Vyas, Sameer, Singhi, Pratibha
Publicado no J Pediatr Neurosci (2014)

The Caveolin‐3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis

Por Brauers, Eva, Roos, Andreas, Kollipara, Laxmikanth, Zahedi, René P., Beckmann, Alf, Mohanadas, Nilane, Bauer, Hartmut, Häusler, Martin, Thoma, Stéphanie, Kress, Wolfram, Senderek, Jan, Weis, Joachim
Publicado no Proteomics Clin Appl (2016)

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Por Arnaud, Estelle, Zenker, Jennifer, de Preux Charles, Anne-Sophie, Stendel, Claudia, Roos, Andreas, Médard, Jean-Jacques, Tricaud, Nicolas, Kleine, Henning, Luscher, Bernhard, Weis, Joachim, Suter, Ueli, Senderek, Jan, Chrast, Roman
Publicado em 2009

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Por Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, Elbracht, Miriam, Stendel, Claudia, Tournev, Ivailo, Mihailova, Violeta, Feit, Howard, Tramonte, Jeff, Hedera, Peter, Crooks, Kristy, Bergmann, Carsten, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Lochmüller, Hanns, Seboun, Eric, Weis, Joachim, Beckmann, Jacques S., Hauser, Michael A., Jackson, Charles E.
Publicado em 2009

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Por Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 
Publicado em 2007

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Por Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, Chrast, Roman
Publicado em 2013

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Por Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
Publicado no Am J Hum Genet (2017)