Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

por Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, Brunhilde
Publicado en Am J Hum Genet (2016)

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

por Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, Brunhilde
Publicado en Am J Hum Genet (2016)

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

por Storbeck, Markus, Horsberg Eriksen, Beate, Unger, Andreas, Hölker, Irmgard, Aukrust, Ingvild, Martínez-Carrera, Lilian A, Linke, Wolfgang A, Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar, Wirth, Brunhilde
Publicado en Eur J Hum Genet (2017)

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

por Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde
Publicado en Am J Hum Genet (2020)

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 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 en Am J Hum Genet (2017)