Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

por Neusch, Clemens, Kuhlmann, Tanja, Kress, Wolfram, Schneider-Gold, Christiane
Publicado 2012

Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

por GRIMM, TIEMO, KRESS, WOLFRAM, MENG, GERHARD, MÜLLER, CLEMENS R.
Publicado 2012

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

por Zaum, Ann‐Kathrin, Nanda, Indrajit, Kress, Wolfram, Rost, Simone
Publicado 2022

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

por Lorenz, Delia, Kress, Wolfram, Zaum, Ann-Kathrin, Speer, Christian P., Hebestreit, Helge
Publicado 2021

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

por Schreiber, Olivia, Schneiderat, Peter, Kress, Wolfram, Rautenstrauss, Bernd, Senderek, Jan, Schoser, Benedikt, Walter, Maggie C
Publicado 2013

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

por Smogavec, Mateja, Zschüntzsch, Jana, Kress, Wolfram, Mohr, Julia, Hellen, Peter, Zoll, Barbara, Pauli, Silke, Schmidt, Jens
Publicado 2017

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

por Mahyera, Alexis S., Schneider, Tamara, Halliger-Keller, Birgit, Schrooten, Katja, Hörner, Eva-Maria, Rost, Simone, Kress, Wolfram
Publicado 2018

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue

por Grunwald, Stefanie Anke, Popp, Oliver, Haafke, Stefanie, Jedraszczak, Nicole, Grieben, Ulrike, Saar, Kathrin, Patone, Giannino, Kress, Wolfram, Steinhagen-Thiessen, Elisabeth, Dittmar, Gunnar, Spuler, Simone
Publicado 2020

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

por Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans
Publicado 2012

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 2016

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

por Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda, Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn
Publicado 2013

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

por Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda S., Shelton, G. Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn
Publicado 2013

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

por Petersen, Jens A., Kuntzer, Thierry, Fischer, Dirk, von der Hagen, Maja, Huebner, Angela, Kana, Veronika, Lobrinus, Johannes A., Kress, Wolfram, Rushing, Elisabeth J., Sinnreich, Michael, Jung, Hans H.
Publicado 2015

Differential diagnosis of vacuolar myopathies in the NGS era

por Mair, Dorothea, Biskup, Saskia, Kress, Wolfram, Abicht, Angela, Brück, Wolfgang, Zechel, Sabrina, Knop, Karl Christian, Koenig, Fatima Barbara, Tey, Shelisa, Nikolin, Stefan, Eggermann, Katja, Kurth, Ingo, Ferbert, Andreas, Weis, Joachim
Publicado 2020

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

por Walter, Maggie C, Reilich, Peter, Thiele, Simone, Schessl, Joachim, Schreiber, Herbert, Reiners, Karlheinz, Kress, Wolfram, Müller-Reible, Clemens, Vorgerd, Matthias, Urban, Peter, Schrank, Bertold, Deschauer, Marcus, Schlotter-Weigel, Beate, Kohnen, Ralf, Lochmüller, Hanns
Publicado 2013

FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data

por Kley, Rudolf Andre, Leber, Yvonne, Schrank, Bertold, Zhuge, Heidi, Orfanos, Zacharias, Kostan, Julius, Onipe, Adekunle, Sellung, Dominik, Güttsches, Anne Katrin, Eggers, Britta, Jacobsen, Frank, Kress, Wolfram, Marcus, Katrin, Djinovic-Carugo, Kristina, van der Ven, Peter F.M., Fürst, Dieter O., Vorgerd, Matthias
Publicado 2021

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado 2014

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

por Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Publicado 2019

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

por Keupp, Katharina, Li, Yun, Vargel, Ibrahim, Hoischen, Alexander, Richardson, Rebecca, Neveling, Kornelia, Alanay, Yasemin, Uz, Elif, Elcioğlu, Nursel, Rachwalski, Martin, Kamaci, Soner, Tunçbilek, Gökhan, Akin, Burcu, Grötzinger, Joachim, Konas, Ersoy, Mavili, Emin, Müller-Newen, Gerhard, Collmann, Hartmut, Roscioli, Tony, Buckley, Michael F, Yigit, Gökhan, Gilissen, Christian, Kress, Wolfram, Veltman, Joris, Hammerschmidt, Matthias, Akarsu, Nurten A, Wollnik, Bernd
Publicado 2013